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1. Supplementary Material Monitoring dexamethasone skin biodistribution with ex vivo MALDI-TOF mass spectrometry imaging and confocal Raman microscopy

Author: Pena-Rodríguez, Eloy [0000-0001-8743-7229], García-Berrocoso, Teresa [0000-0001-8072-8533], Abián, Joaquín [0000-0003-2823-5429], Pena-Rodríguez, Eloy, García-Berrocoso, Teresa, Vázquez Fernández, Ezequiel, Otero-Espinar, Francisco J., Abián, Joaquín, Fernández-Campos, Francisco, Pena-Rodríguez, Eloy [0000-0001-8743-7229], García-Berrocoso, Teresa [0000-0001-8072-8533], Abián, Joaquín [0000-0003-2823-5429], Pena-Rodríguez, Eloy, García-Berrocoso, Teresa, Vázquez Fernández, Ezequiel, Otero-Espinar, Francisco J., Abián, Joaquín, and Fernández-Campos, Francisco
Published: 2023

2. Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease

Author: European Research Council, Instituto de Salud Carlos III, Pérez-Tur, Jordi [0000-0002-9111-1712], European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR), Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis Miguel, Piñol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramírez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, European Research Council, Instituto de Salud Carlos III, Pérez-Tur, Jordi [0000-0002-9111-1712], European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR), Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis Miguel, Piñol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramírez, Alfredo, Lambert, Jean-Charles, and Frikke-Schmidt, Ruth
Abstract: Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, setting, and participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main outcomes and measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39 106 participants with clinically diagnosed AD and 401 577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire UK
Published: 2023

3. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men

Author: Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, Ruiz, Agustín, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, and Ruiz, Agustín
Abstract: Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (p = 4.22 × 10−20) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, p = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis.
Published: 2023

4. Planetary companions orbiting the M dwarfs GJ 724 and GJ 3988: A CARMENES and IRD collaboration

Author: Junta de Andalucía, Consejo Superior de Investigaciones Científicas (España), Generalitat de Catalunya, Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Ministerio de Ciencia e Innovación (España), European Commission, Gorrini, Paula, Pozuelos, Francisco J., Caballero, J. A., Amado, Pedro J., Ribas, Ignasi, Cifuentes, C., López González, Maria J., Morales, Juan Carlos, Rodríguez, Eloy, Zapatero Osorio, María Rosa, Zechmeister, Mathias, Junta de Andalucía, Consejo Superior de Investigaciones Científicas (España), Generalitat de Catalunya, Agencia Estatal de Investigación (España), Ministerio de Ciencia, Innovación y Universidades (España), Ministerio de Ciencia e Innovación (España), European Commission, Gorrini, Paula, Pozuelos, Francisco J., Caballero, J. A., Amado, Pedro J., Ribas, Ignasi, Cifuentes, C., López González, Maria J., Morales, Juan Carlos, Rodríguez, Eloy, Zapatero Osorio, María Rosa, and Zechmeister, Mathias
Abstract: We report the discovery of two exoplanets around the M dwarfs GJ 724 and GJ 3988 using the radial velocity (RV) method. We obtained a total of 153 3.5 m Calar Alto/CARMENES spectra for both targets and measured their RVs and activity indicators. We also added archival ESO/HARPS data for GJ 724 and infrared RV measurements from Subaru/IRD for GJ 3988. We searched for periodic and stable signals to subsequently construct Keplerian models, considering different numbers of planets, and we selected the best models based on their Bayesian evidence. Gaussian process (GP) regression was included in some models to account for activity signals. For both systems, the best model corresponds to one single planet. The minimum masses are 10.75−0.87+0.96 and 3.69−0.41+0.42 Earth-masses for GJ 724 b and GJ 3988 b, respectively. Both planets have short periods (P < 10 d) and, therefore, they orbit their star closely (a < 0.05 au). GJ 724 b has an eccentric orbit (e = 0.577−0.052+0.055), whereas the orbit of GJ 3988 b is circular. The high eccentricity of GJ 724 b makes it the most eccentric single exoplanet (to this date) around an M dwarf. Thus, we suggest a further analysis to understand its configuration in the context of planetary formation and architecture. In contrast, GJ 3988 b is an example of a common type of planet around mid-M dwarfs.
Published: 2023

5. Genetic Associations between Modifiable Risk Factors and Alzheimer Disease

Author: Danish Heart Foundation, Lundbeck Foundation, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Pinol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, Van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, Van der Flier, Wiesje, Ruiz, Agustin, Ramírez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, Danish Heart Foundation, Lundbeck Foundation, Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J, Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis M, Pinol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, Van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, Van der Flier, Wiesje, Ruiz, Agustin, Ramírez, Alfredo, Lambert, Jean-Charles, and Frikke-Schmidt, Ruth
Abstract: Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, Setting, and Participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main Outcomes and Measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39106 participants with clinically diagnosed AD and 401577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire UK B
Published: 2023

6. Two sub-Neptunes around the M dwarf TOI-1470

Author: Ministerio de Ciencia e Innovación (España), European Commission, Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Japan Society for the Promotion of Science, Generalitat de Catalunya, Junta de Andalucía, González-Álvarez, E., Zapatero Osorio, María Rosa, Caballero, J. A., Cifuentes, C., Herrero Casas, Enrique, López González, Maria J., Rodríguez, Eloy, Rodríguez-López, Cristina, Sanz-Forcada, J., Tabernero, H. M., Amado, Pedro J., Ribas, Ignasi, Ministerio de Ciencia e Innovación (España), European Commission, Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Japan Society for the Promotion of Science, Generalitat de Catalunya, Junta de Andalucía, González-Álvarez, E., Zapatero Osorio, María Rosa, Caballero, J. A., Cifuentes, C., Herrero Casas, Enrique, López González, Maria J., Rodríguez, Eloy, Rodríguez-López, Cristina, Sanz-Forcada, J., Tabernero, H. M., Amado, Pedro J., and Ribas, Ignasi
Abstract: [Aims] A transiting planet candidate with a sub-Neptune radius orbiting the nearby (d = 51.9 ± 0.07 pc) M1.5 V star TOI-1470 with a period of ~2.5 d was announced by the NASA Transiting Exoplanet Survey Satellite (TESS), which observed the field of TOI-1470 in four different sectors. We aim to validate its planetary nature using precise radial velocities (RVs) taken with the CARMENES spectrograph., [Methods] We obtained 44 RV measurements with CARMENES spanning eight months between 3 June 2020 and 17 January 2021. For a better characterization of the parent star activity, we also collected contemporaneous optical photometric observations at the Joan Oró and Sierra Nevada Observatories, and we retrieved archival photometry from the literature. We used ground-based photometric observations from MuSCAT and also from MuSCAT2 and MuSCAT3 to confirm the planetary transit signals. We performed a combined photometric and spectroscopic analysis by including Gaussian processes and Keplerian orbits to simultaneously account for the stellar activity and planetary signals., [Results] We estimate that TOI-1470 has a rotation period of 29 ± 3d based on photometric and spectroscopic data. The combined analysis confirms the discovery of the announced transiting planet, TOI-1470 b, with an orbital period of 2.527093 ± 0.000003 d, a mass of 7.32-1.24+1.21M⊕, and a radius of 2.18-0.04+0.04R⊕. We also discover a second transiting planet that was not announced previously by TESS, TOI-1470 c, with an orbital period of 18.08816 ± 0.00006 d, a mass of 7.24-2.77+2.87M⊕, and a radius of 2.47-0.02+0.02R⊕ . The two planets are placed on the same side of the radius valley of M dwarfs and lie between TOI-1470 and the inner border of its habitable zone.
Published: 2023

7. Genomic Characterization of Host Factors Related to SARS-CoV-2 Infection in People with Dementia and Control Populations: The GR@ACE/DEGESCO Study

Author: Instituto de Salud Carlos III, Grifols, La Caixa, Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundación Reina Sofía, European Commission, Rojas, Itziar de [0000-0002-2148-381X], Calero, Miguel [0000-0001-5366-3324], Menéndez-González, Manuel [0000-0002-5218-0774], Díez-Fairen, Mónica [0000-0003-1882-0309], Rábano, Alberto [0000-0001-9320-6566], Rodríguez-Rodríguez, Eloy [0000-0001-7742-677X], Álvarez, Ignacio [0000-0002-8537-3935], Bullido, María Jesús [0000-0002-6477-1117], Álvarez, Victoria [0000-0002-1916-2523], Real, Luis M. [0000-0003-4932-7429], Medina, Miguel [0000-0002-7016-5340], Butler, Christopher R. [0000-0002-7502-9284], Sáez, María Eugenia [0000-0001-9299-2534], Carracedo, Ángel [0000-0003-1085-8986], Ruiz, Agustín [0000-0003-2633-2495], Rojas, Itziar de, Hernández, Isabel, Montrreal, Laura, Quintela, Inés, Calero, Miguel, Royo, José Luis, Huerto Vilas, Raquel, González-Pérez, Antonio, Franco-Macías, Emilio, Macías Sánchez, Juan, Menéndez-González, Manuel, Frank-García, Ana, Díez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, Aguilera, Nuria, García-González, Pablo, Puerta, Raquel, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Rábano, Alberto, Arias Pastor, Alfonso, Pastor, Ana Belén, Corma-Gómez, Anaïs, Martin Montes, Ángel, Martínez Rodríguez, Carmen, Buiza-Rueda, Dolores, Periñán, María Teresa, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Rosas Allende, Irene, Pineda, Juan A., Bernal Sánchez-Arjona, María, Fernández-Fuertes, Marta, Mendoza, Silvia, Ser, Teodoro del, GR@ACE, DEGESCO Consortium, García-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Bullido, María Jesús, Álvarez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol-Ripoll, Gerard, García-Alberca, José María, Medina, Miguel, Orellana, Adelina, Butler, Christopher R., Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Tárraga, Lluís, Boada, Mercè, Ruiz, Agustín, Instituto de Salud Carlos III, Grifols, La Caixa, Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Fundación Reina Sofía, European Commission, Rojas, Itziar de [0000-0002-2148-381X], Calero, Miguel [0000-0001-5366-3324], Menéndez-González, Manuel [0000-0002-5218-0774], Díez-Fairen, Mónica [0000-0003-1882-0309], Rábano, Alberto [0000-0001-9320-6566], Rodríguez-Rodríguez, Eloy [0000-0001-7742-677X], Álvarez, Ignacio [0000-0002-8537-3935], Bullido, María Jesús [0000-0002-6477-1117], Álvarez, Victoria [0000-0002-1916-2523], Real, Luis M. [0000-0003-4932-7429], Medina, Miguel [0000-0002-7016-5340], Butler, Christopher R. [0000-0002-7502-9284], Sáez, María Eugenia [0000-0001-9299-2534], Carracedo, Ángel [0000-0003-1085-8986], Ruiz, Agustín [0000-0003-2633-2495], Rojas, Itziar de, Hernández, Isabel, Montrreal, Laura, Quintela, Inés, Calero, Miguel, Royo, José Luis, Huerto Vilas, Raquel, González-Pérez, Antonio, Franco-Macías, Emilio, Macías Sánchez, Juan, Menéndez-González, Manuel, Frank-García, Ana, Díez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, Aguilera, Nuria, García-González, Pablo, Puerta, Raquel, Sotolongo-Grau, Oscar, Alonso-Lana, Silvia, Rábano, Alberto, Arias Pastor, Alfonso, Pastor, Ana Belén, Corma-Gómez, Anaïs, Martin Montes, Ángel, Martínez Rodríguez, Carmen, Buiza-Rueda, Dolores, Periñán, María Teresa, Rodríguez-Rodríguez, Eloy, Álvarez, Ignacio, Rosas Allende, Irene, Pineda, Juan A., Bernal Sánchez-Arjona, María, Fernández-Fuertes, Marta, Mendoza, Silvia, Ser, Teodoro del, GR@ACE, DEGESCO Consortium, García-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Bullido, María Jesús, Álvarez, Victoria, Real, Luis Miguel, Mir, Pablo, Piñol-Ripoll, Gerard, García-Alberca, José María, Medina, Miguel, Orellana, Adelina, Butler, Christopher R., Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín
Abstract: Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study using the GR@ACE/DEGESCO study, searching for susceptibility factors associated with COVID-19 disease. To this end, we compared 221 COVID-19 confirmed cases with 17,035 individuals in whom the COVID-19 disease status was unknown. Then, we performed a meta-analysis with the publicly available data from the COVID-19 Host Genetics Initiative. Because the APOE locus has been suggested as a potential modifier of COVID-19 disease, we added sensitivity analyses stratifying by dementia status or by disease severity. We confirmed the existence of the 3p21.31 region (LZTFL1, SLC6A20) implicated in the susceptibility to SARS-CoV-2 infection and TYK2 gene might be involved in COVID-19 severity. Nevertheless, no statistically significant association was observed in the COVID-19 fatal outcome or in the stratified analyses (dementia-only and non-dementia strata) for the APOE locus not supporting its involvement in SARS-CoV-2 pathobiology or COVID-19 prognosis.
Published: 2021

8. Monitoring the socio-economic impact of COVID-19 in the Maspalomas touristic area

Author: Peña-Alonso, Carolina, Sanchez-Medina, Javier, Hernández-Alemán, Anastasia, García-Romero, Leví, Sanromualdo-Collado, Abel, Santana-Santana, Sara, Pérez-Hernández, Eva, Marrero-Rodríguez, Néstor, Del Rosario Rodríguez, Eloy, Pérez-Chacón, Emma, Hernández-Calvento, Luis, Peña-Alonso, Carolina, Sanchez-Medina, Javier, Hernández-Alemán, Anastasia, García-Romero, Leví, Sanromualdo-Collado, Abel, Santana-Santana, Sara, Pérez-Hernández, Eva, Marrero-Rodríguez, Néstor, Del Rosario Rodríguez, Eloy, Pérez-Chacón, Emma, and Hernández-Calvento, Luis
Abstract: The COVID-19 pandemic caused by the SARS-CoV-2 virus is deeply impacting social and economic systems at global scale. This situation is characterized by continuously changing scenarios. Therefore, tools are needed to contribute to the reduction of the susceptibility of the socio-economic system at different geographical scales. To this regard, the University of Las Palmas de Gran Canaria is deploying a research project focused on the socio-economic impact of COVID-19 on the tourist socio-economic activities of Maspalomas, as a benchmarking case of tourist area in the Canary Islands.
Published: 2022

9. A transiting, temperate mini-Neptune orbiting the M dwarf TOI-1759 unveiled by TESS

Author: Espinoza, Néstor, Pallé, Enric, Kemmer, Jonas, Luque, Rafael, Caballero, José A., Cifuentes, Carlos, Herrero, Enrique, Béjar, Víctor J. Sánchez, Stock, Stephan, Molaverdikhani, Karan, Morello, Giuseppe, Kossakowski, Diana, Schlecker, Martin, Amado, Pedro J., Bluhm, Paz, Cortés-Contreras, Miriam, Henning, Thomas, Kreidberg, Laura, Kürster, Martin, Lafarga, Marina, Lodieu, Nicolas, Morales, Juan Carlos, Oshagh, Mahmoudreza, Passegger, Vera M., Pavlov, Alexey, Quirrenbach, Andreas, Reffert, Sabine, Reiners, Ansgar, Ribas, Ignasi, Rodríguez, Eloy, López, Cristina Rodríguez, Schweitzer, Andreas, Trifonov, Trifon, Chaturvedi, Priyanka, Dreizler, Stefan, Jeffers, Sandra V., Kaminski, Adrian, López-González, María José, Lillo-Box, Jorge, Montes, David, Nowak, Grzegorz, Pedraz, Santos, Vanaverbeke, Siegfried, Osorio, Maria R. Zapatero, Zechmeister, Mathias, Collins, Karen A., Girardin, Eric, Guerra, Pere, Naves, Ramon, Crossfield, Ian J. M., Matthews, Elisabeth C., Howell, Steve B., Ciardi, David R., Gonzales, Erica, Matson, Rachel A., Beichman, Charles A., Schlieder, Joshua E., Barclay, Thomas, Vezie, Michael, Villaseñor, Jesus Noel, Daylan, Tansu, Mireies, Ismael, Dragomir, Diana, Twicken, Joseph D., Jenkins, Jon, Winn, Joshua N., Latham, David, Ricker, George, Seager, Sara, Espinoza, Néstor, Pallé, Enric, Kemmer, Jonas, Luque, Rafael, Caballero, José A., Cifuentes, Carlos, Herrero, Enrique, Béjar, Víctor J. Sánchez, Stock, Stephan, Molaverdikhani, Karan, Morello, Giuseppe, Kossakowski, Diana, Schlecker, Martin, Amado, Pedro J., Bluhm, Paz, Cortés-Contreras, Miriam, Henning, Thomas, Kreidberg, Laura, Kürster, Martin, Lafarga, Marina, Lodieu, Nicolas, Morales, Juan Carlos, Oshagh, Mahmoudreza, Passegger, Vera M., Pavlov, Alexey, Quirrenbach, Andreas, Reffert, Sabine, Reiners, Ansgar, Ribas, Ignasi, Rodríguez, Eloy, López, Cristina Rodríguez, Schweitzer, Andreas, Trifonov, Trifon, Chaturvedi, Priyanka, Dreizler, Stefan, Jeffers, Sandra V., Kaminski, Adrian, López-González, María José, Lillo-Box, Jorge, Montes, David, Nowak, Grzegorz, Pedraz, Santos, Vanaverbeke, Siegfried, Osorio, Maria R. Zapatero, Zechmeister, Mathias, Collins, Karen A., Girardin, Eric, Guerra, Pere, Naves, Ramon, Crossfield, Ian J. M., Matthews, Elisabeth C., Howell, Steve B., Ciardi, David R., Gonzales, Erica, Matson, Rachel A., Beichman, Charles A., Schlieder, Joshua E., Barclay, Thomas, Vezie, Michael, Villaseñor, Jesus Noel, Daylan, Tansu, Mireies, Ismael, Dragomir, Diana, Twicken, Joseph D., Jenkins, Jon, Winn, Joshua N., Latham, David, Ricker, George, and Seager, Sara
Abstract: We report the discovery and characterization of TOI-1759~b, a temperate (400 K) sub-Neptune-sized exoplanet orbiting the M~dwarf TOI-1759 (TIC 408636441). TOI-1759 b was observed by TESS to transit on sectors 16, 17 and 24, with only one transit observed per sector, creating an ambiguity on the orbital period of the planet candidate. Ground-based photometric observations, combined with radial-velocity measurements obtained with the CARMENES spectrograph, confirm an actual period of $18.85019 \pm 0.00014$ d. A joint analysis of all available photometry and radial velocities reveal a radius of $3.17 \pm 0.10\,R_\oplus$ and a mass of $10.8 \pm 1.5\,M_\oplus$. Combining this with the stellar properties derived for TOI-1759 ($R_\star = 0.597 \pm 0.015\,R_\odot$; $M_\star = 0.606 \pm 0.020\,M_\odot$; $T_{\textrm{eff}} = 4065 \pm 51$ K), we compute a transmission spectroscopic metric (TSM) value of over 80 for the planet, making it a good target for transmission spectroscopy studies. TOI-1759 b is among the top five temperate, small exoplanets ($T_\textrm{eq} < 500$ K, $R_p < 4 \,R_\oplus$) with the highest TSM discovered to date. Two additional signals with periods of 80 d and $>$ 200 d seem to be present in our radial velocities. While our data suggest both could arise from stellar activity, the later signal's source and periodicity are hard to pinpoint given the $\sim 200$ d baseline of our radial-velocity campaign with CARMENES. Longer baseline radial-velocity campaigns should be performed in order to unveil the true nature of this long period signal., Comment: 22 pages, 10 figures, 7 tables. AJ in press
Published: 2022
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10. Awareness of Diagnosis in Persons with Early-Stage Alzheimer's Disease: An Observational Study in Spain

Author: Roche, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), European Commission, European Federation of Pharmaceutical Industries and Associations, Instituto de Salud Carlos III, Grifols, Fundación la Caixa, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Lleó, Alberto, Maurino, Jorge, Roche, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), European Commission, European Federation of Pharmaceutical Industries and Associations, Instituto de Salud Carlos III, Grifols, Fundación la Caixa, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Lleó, Alberto, and Maurino, Jorge
Abstract: [Introduction] Limited information is available on people’s experiences of living with Alzheimer’s disease (AD) at earlier stages. This study assessed awareness of diagnosis among people with early-stage AD and its impact on different person-centered outcome measures., [Methods] We conducted an observational, cross-sectional study in 21 memory clinics in Spain. Persons aged 50–90 years, diagnosed with prodromal or mild AD (NIA/AA criteria), a Mini Mental State Examination (MMSE) score ≥ 22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5 or 1.0 were recruited. The Representations and Adjustment to Dementia Index (RADIX) was used to assess participants’ beliefs about their condition and its consequences., [Results] A total of 149 persons with early-stage AD were studied. Mean (SD) age was 72.3 (7.0) years and 50.3% were female. Mean duration of AD was 1.4 (1.8) years. Mean MMSE score was 24.6 (2.1) and 87.2% had a CDR-GS score of 0.5. Most participants (n = 84, 57.5%) used a descriptive term related to specific AD symptoms (e.g., memory difficulties) when asked what they called their condition. Participants aware of their diagnosis using the term AD (n = 66, 45.2%) were younger, had more depressive symptoms, and poorer life satisfaction and quality of life compared to those without awareness of their specific diagnosis. Practical and emotional consequences RADIX scores showed a significant negative correlation with Quality of Life in Alzheimer’s Disease score (rho = − 0.389 and − 0.413, respectively; p < 0.0001). Years of education was the only predictor of awareness of AD diagnosis [OR = 1.04 (95% CI 1.00–1.08); p = 0.029]., [Conclusions] Awareness of diagnosis was a common phenomenon in persons with early-stage AD negatively impacting their quality of life. Understanding illness representations in earlier stages may facilitate implementing optimized care that supports improved quality of life and well-being.
Published: 2022

11. Quality of Life and the Experience of Living with Early-Stage Alzheimer's Disease

Author: Roche, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Terrancle, Ángeles, Prefasi, Daniel, Lleó, Alberto, Maurino, Jorge, Roche, Villarejo-Galende, Alberto, García-Arcelay, Elena, Piñol-Ripoll, Gerard, Olmo-Rodríguez, Antonio del, Viñuela, Félix, Boada, Mercè, Franco-Macías, Emilio, Ibáñez de la Peña, Almudena, Riverol, Mario, Puig-Pijoan, Albert, Abizanda-Soler, Pedro, Arroyo, Rafael, Baquero, Miquel, Feria-Vilar, Inmaculada, Balasa, Mircea, Berbel, Ángel, Rodríguez-Rodríguez, Eloy, Vieira-Campos, Alba, García-Ribas, Guillermo, Rodrigo-Herrero, Silvia, Terrancle, Ángeles, Prefasi, Daniel, Lleó, Alberto, and Maurino, Jorge
Abstract: [Background] There is a need to better understand the experience of patients living with Alzheimer's disease (AD) in the early stages., [Objective] The aim of the study was to evaluate the perception of quality of life in patients with early-stage AD., [Methods] A multicenter, non-interventional study was conducted including patients of 50–90 years of age with prodromal or mild AD, a Mini-Mental State Examination (MMSE) score ≥22, and a Clinical Dementia Rating-Global score (CDR-GS) of 0.5.–1.0. The Quality of Life in Alzheimer ’s Disease (QoL-AD) questionnaire was used to assess health-related quality of life. A battery of self-report instruments was used to evaluate different psychological and behavioral domains. Associations between the QoL-AD and other outcome measures were analyzed using Spearman’s rank correlations., [Results] A total of 149 patients were included. Mean age (SD) was 72.3 (7.0) years and mean disease duration was 1.4 (1.8) years. Mean MMSE score was 24.6 (2.1). The mean QoL-AD score was 37.9 (4.5). Eighty-three percent (n = 124) of patients had moderate-to-severe hopelessness, 22.1% (n = 33) had depressive symptoms, and 36.9% (n = 55) felt stigmatized. The quality of life showed a significant positive correlation with self-efficacy and negative correlations with depression, emotional and practical consequences, stigma, and hopelessness., [Conclusion] Stigma, depressive symptoms, and hopelessness are frequent scenarios in AD negatively impacting quality of life, even in a population with short disease duration and minimal cognitive impairment.
Published: 2022

12. Why Percussive Massage Therapy Does Not Improve Recovery after a Water Rescue? A Preliminary Study with Lifeguards

Author: Alonso-Calvete, Alejandra, Lorenzo-Martínez, Miguel, Pérez-Ferreirós, Alexandra, Couso-Bruno, Antonio, Carracedo-Rodríguez, Eloy, Barcala-Furelos, Martín, Barcala-Furelos, Roberto, Padrón Cabo, Alexis, Alonso-Calvete, Alejandra, Lorenzo-Martínez, Miguel, Pérez-Ferreirós, Alexandra, Couso-Bruno, Antonio, Carracedo-Rodríguez, Eloy, Barcala-Furelos, Martín, Barcala-Furelos, Roberto, and Padrón Cabo, Alexis
Abstract: [Abstract] The aim of this study was to analyze the effects of percussive massage therapy (PMT) on lifeguards’ recovery after a water rescue, in comparison with passive recovery. Methods: A quasi-experimental crossover design was conducted to compare passive recovery (PR) and a PMT protocol. A total of 14 volunteer lifeguards performed a simulated 100 m water rescue and perceived fatigue and blood lactate were measured as recovery variables after the rescue and after the 8-min recovery process. Results: There were no differences between PMT and PR in lactate clearance (p > 0.05), finding in both modalities a small but not significant decrease in blood lactate. In perceived fatigue, both methods decreased this variable significantly (p < 0.001), with no significant differences between them (p > 0.05). Conclusions: PMT does not enhance recovery after a water rescue, in comparison with staying passive. Despite PMT appearing to be adequate for recovery in other efforts, it is not recommended for lifeguards’ recovery after a water rescue.
Published: 2022

13. A transiting, temperate mini-Neptune orbiting the M dwarf TOI-1759 unveiled by TESS

Author: Espinoza, Néstor, Pallé, Enric, Kemmer, Jonas, Luque, Rafael, Caballero, José A., Cifuentes, Carlos, Herrero, Enrique, Béjar, Víctor J. Sánchez, Stock, Stephan, Molaverdikhani, Karan, Morello, Giuseppe, Kossakowski, Diana, Schlecker, Martin, Amado, Pedro J., Bluhm, Paz, Cortés-Contreras, Miriam, Henning, Thomas, Kreidberg, Laura, Kürster, Martin, Lafarga, Marina, Lodieu, Nicolas, Morales, Juan Carlos, Oshagh, Mahmoudreza, Passegger, Vera M., Pavlov, Alexey, Quirrenbach, Andreas, Reffert, Sabine, Reiners, Ansgar, Ribas, Ignasi, Rodríguez, Eloy, López, Cristina Rodríguez, Schweitzer, Andreas, Trifonov, Trifon, Chaturvedi, Priyanka, Dreizler, Stefan, Jeffers, Sandra V., Kaminski, Adrian, López-González, María José, Lillo-Box, Jorge, Montes, David, Nowak, Grzegorz, Pedraz, Santos, Vanaverbeke, Siegfried, Osorio, Maria R. Zapatero, Zechmeister, Mathias, Collins, Karen A., Girardin, Eric, Guerra, Pere, Naves, Ramon, Crossfield, Ian J. M., Matthews, Elisabeth C., Howell, Steve B., Ciardi, David R., Gonzales, Erica, Matson, Rachel A., Beichman, Charles A., Schlieder, Joshua E., Barclay, Thomas, Vezie, Michael, Villaseñor, Jesus Noel, Daylan, Tansu, Mireies, Ismael, Dragomir, Diana, Twicken, Joseph D., Jenkins, Jon, Winn, Joshua N., Latham, David, Ricker, George, Seager, Sara, Espinoza, Néstor, Pallé, Enric, Kemmer, Jonas, Luque, Rafael, Caballero, José A., Cifuentes, Carlos, Herrero, Enrique, Béjar, Víctor J. Sánchez, Stock, Stephan, Molaverdikhani, Karan, Morello, Giuseppe, Kossakowski, Diana, Schlecker, Martin, Amado, Pedro J., Bluhm, Paz, Cortés-Contreras, Miriam, Henning, Thomas, Kreidberg, Laura, Kürster, Martin, Lafarga, Marina, Lodieu, Nicolas, Morales, Juan Carlos, Oshagh, Mahmoudreza, Passegger, Vera M., Pavlov, Alexey, Quirrenbach, Andreas, Reffert, Sabine, Reiners, Ansgar, Ribas, Ignasi, Rodríguez, Eloy, López, Cristina Rodríguez, Schweitzer, Andreas, Trifonov, Trifon, Chaturvedi, Priyanka, Dreizler, Stefan, Jeffers, Sandra V., Kaminski, Adrian, López-González, María José, Lillo-Box, Jorge, Montes, David, Nowak, Grzegorz, Pedraz, Santos, Vanaverbeke, Siegfried, Osorio, Maria R. Zapatero, Zechmeister, Mathias, Collins, Karen A., Girardin, Eric, Guerra, Pere, Naves, Ramon, Crossfield, Ian J. M., Matthews, Elisabeth C., Howell, Steve B., Ciardi, David R., Gonzales, Erica, Matson, Rachel A., Beichman, Charles A., Schlieder, Joshua E., Barclay, Thomas, Vezie, Michael, Villaseñor, Jesus Noel, Daylan, Tansu, Mireies, Ismael, Dragomir, Diana, Twicken, Joseph D., Jenkins, Jon, Winn, Joshua N., Latham, David, Ricker, George, and Seager, Sara
Abstract: We report the discovery and characterization of TOI-1759~b, a temperate (400 K) sub-Neptune-sized exoplanet orbiting the M~dwarf TOI-1759 (TIC 408636441). TOI-1759 b was observed by TESS to transit on sectors 16, 17 and 24, with only one transit observed per sector, creating an ambiguity on the orbital period of the planet candidate. Ground-based photometric observations, combined with radial-velocity measurements obtained with the CARMENES spectrograph, confirm an actual period of $18.85019 \pm 0.00014$ d. A joint analysis of all available photometry and radial velocities reveal a radius of $3.17 \pm 0.10\,R_\oplus$ and a mass of $10.8 \pm 1.5\,M_\oplus$. Combining this with the stellar properties derived for TOI-1759 ($R_\star = 0.597 \pm 0.015\,R_\odot$; $M_\star = 0.606 \pm 0.020\,M_\odot$; $T_{\textrm{eff}} = 4065 \pm 51$ K), we compute a transmission spectroscopic metric (TSM) value of over 80 for the planet, making it a good target for transmission spectroscopy studies. TOI-1759 b is among the top five temperate, small exoplanets ($T_\textrm{eq} < 500$ K, $R_p < 4 \,R_\oplus$) with the highest TSM discovered to date. Two additional signals with periods of 80 d and $>$ 200 d seem to be present in our radial velocities. While our data suggest both could arise from stellar activity, the later signal's source and periodicity are hard to pinpoint given the $\sim 200$ d baseline of our radial-velocity campaign with CARMENES. Longer baseline radial-velocity campaigns should be performed in order to unveil the true nature of this long period signal., Comment: 22 pages, 10 figures, 7 tables. AJ in press
Published: 2022
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14. Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Author: Le Guen, Yann, Belloy, Michael E, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo-Morales, Atahualpa, Jansen, Iri, Nicolas, Aude, Bellenguez, Céline, Dalmasso, Carolina, Küçükali, Fahri, Eger, Sarah J, Rasmussen, Katrine Laura, Thomassen, Jesper Qvist, Deleuze, Jean-Françoi, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G, van Duijn, Cornelia, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M, Ramirez, Alfredo, Andreassen, Ole A, Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charle, Greicius, Michael D, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmanta, Grimmer, Timo, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Juliu, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolao, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Fran, Vyhnalek, Martin, Wiltfang, Jen, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis M, Álvarez, Victoria, Bullido, María J, Clarimon, Jordi, García-Alberca, José María, Mir, Pablo, Moreno, Fermin, Pastor, Pau, Piñol-Ripoll, Gerard, Molina-Porcel, Laura, Pérez-Tur, Jordi, Rodríguez-Rodríguez, Eloy, Royo, Jose Luí, Sánchez-Valle, Raquel, Dichgans, Martin, Rujescu, Dan, Daniele, Antonio (ORCID:0000-0003-1641-5852), Masullo, Carlo (ORCID:0000-0001-7798-3410), Le Guen, Yann, Belloy, Michael E, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo-Morales, Atahualpa, Jansen, Iri, Nicolas, Aude, Bellenguez, Céline, Dalmasso, Carolina, Küçükali, Fahri, Eger, Sarah J, Rasmussen, Katrine Laura, Thomassen, Jesper Qvist, Deleuze, Jean-Françoi, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G, van Duijn, Cornelia, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M, Ramirez, Alfredo, Andreassen, Ole A, Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charle, Greicius, Michael D, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmanta, Grimmer, Timo, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Juliu, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolao, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Fran, Vyhnalek, Martin, Wiltfang, Jen, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis M, Álvarez, Victoria, Bullido, María J, Clarimon, Jordi, García-Alberca, José María, Mir, Pablo, Moreno, Fermin, Pastor, Pau, Piñol-Ripoll, Gerard, Molina-Porcel, Laura, Pérez-Tur, Jordi, Rodríguez-Rodríguez, Eloy, Royo, Jose Luí, Sánchez-Valle, Raquel, Dichgans, Martin, Rujescu, Dan, Daniele, Antonio (ORCID:0000-0003-1641-5852), and Masullo, Carlo (ORCID:0000-0001-7798-3410)
Abstract: IMPORTANCE The APOE epsilon 2 and APOE epsilon 4 alleles are the strongest protective and risk-increasing, respectively, genetic variants for late-onset Alzheimer disease (AD). However, the mechanisms linking APOE to AD-particularly the apoE protein's role in AD pathogenesis and how this is affected by APOE variants-remain poorly understood. Identifying missense variants in addition to APOE epsilon 2 and APOE epsilon 4 could provide critical new insights, but given the low frequency of additional missense variants, AD genetic cohorts have previously been too small to interrogate this question robustly.OBJECTIVE To determine whether rare missense variants on APOE are associated with AD risk.DESIGN, SETTING, AND PARTICIPANTS Association with case-control status was tested in a sequenced discovery sample (stage 1) and followed up in several microarray imputed cohorts as well as the UK Biobank whole-exome sequencing resource using a proxy-AD phenotype (stages 2 and 3). This study combined case-control, family-based, population-based, and longitudinal AD-related cohorts that recruited referred and volunteer participants. Stage 1 induded 37 409 nonunique participants of European or admixed European ancestry, with 11868 individuals with AD and 11 934 controls passing analysis inclusion criteria. In stages 2 and 3, 475 473 participants were considered across 8 cohorts, of which 84513 individuals with AD and proxy-AD and 328 372 controls passed inclusion criteria. Selection criteria were cohort specific, and this study was performed a posteriori on individuals who were genotyped. Among the available genotypes, 76 195 were excluded. All data were retrieved between September 2015 and November 2021 and analyzed between April and November 2021.MAIN OUTCOMES AND MEASURES In primary analyses, the AD risk associated with each missense variant was estimated, as appropriate, with either linear mixed-model regression or logistic regression. In secondary analyses, associations were est
Published: 2022

15. Monitoring the socio-economic impact of COVID-19 in the Maspalomas touristic area

Author: Peña-Alonso, Carolina, Sanchez-Medina, Javier, Hernández-Alemán, Anastasia, García-Romero, Leví, Sanromualdo-Collado, Abel, Santana-Santana, Sara, Pérez-Hernández, Eva, Marrero-Rodríguez, Néstor, Del Rosario Rodríguez, Eloy, Pérez-Chacón, Emma, Hernández-Calvento, Luis, Peña-Alonso, Carolina, Sanchez-Medina, Javier, Hernández-Alemán, Anastasia, García-Romero, Leví, Sanromualdo-Collado, Abel, Santana-Santana, Sara, Pérez-Hernández, Eva, Marrero-Rodríguez, Néstor, Del Rosario Rodríguez, Eloy, Pérez-Chacón, Emma, and Hernández-Calvento, Luis
Abstract: The COVID-19 pandemic caused by the SARS-CoV-2 virus is deeply impacting social and economic systems at global scale. This situation is characterized by continuously changing scenarios. Therefore, tools are needed to contribute to the reduction of the susceptibility of the socio-economic system at different geographical scales. To this regard, the University of Las Palmas de Gran Canaria is deploying a research project focused on the socio-economic impact of COVID-19 on the tourist socio-economic activities of Maspalomas, as a benchmarking case of tourist area in the Canary Islands.
Published: 2022

16. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Author: Chia, Ruth, Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, American Genome Center, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, Logroscino, Giancarlo, Chia, Ruth, Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, American Genome Center, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, and Logroscino, Giancarlo
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

17. Distinctive Oculomotor Behaviors in Alzheimer's Disease and Frontotemporal Dementia

Author: Lage, Carmen, López-García, Sara, Bejanin, Alexandre, Kazimierczak, Martha, Aracil-Bolaños, Ignacio, Calvo-Córdoba, Alberto, Pozueta, Ana, García-Martínez, María, Fernández-Rodríguez, Andrea, Bravo-González, María, Jiménez-Bonilla, Julio, Banzo, Ignacio, Irure-Ventura, Juan, Pegueroles, Jordi, Illán-Gala, Ignacio, Fortea, Juan, Rodríguez-Rodríguez, Eloy, Lleó, Alberto, García-Cena, Cecilia E., Sánchez-Juan, Pascual, Universitat Autònoma de Barcelona, Lage, Carmen, López-García, Sara, Bejanin, Alexandre, Kazimierczak, Martha, Aracil-Bolaños, Ignacio, Calvo-Córdoba, Alberto, Pozueta, Ana, García-Martínez, María, Fernández-Rodríguez, Andrea, Bravo-González, María, Jiménez-Bonilla, Julio, Banzo, Ignacio, Irure-Ventura, Juan, Pegueroles, Jordi, Illán-Gala, Ignacio, Fortea, Juan, Rodríguez-Rodríguez, Eloy, Lleó, Alberto, García-Cena, Cecilia E., Sánchez-Juan, Pascual, and Universitat Autònoma de Barcelona
Abstract: Oculomotor behavior can provide insight into the integrity of widespread cortical networks, which may contribute to the differential diagnosis between Alzheimer's disease and frontotemporal dementia. Three groups of patients with Alzheimer's disease, behavioral variant of frontotemporal dementia (bvFTD) and semantic variant of primary progressive aphasia (svPPA) and a sample of cognitively unimpaired elders underwent an eye-tracking evaluation. All participants in the discovery sample, including controls, had a biomarker-supported diagnosis. Oculomotor correlates of neuropsychology and brain metabolism evaluated with 18F-FDG PET were explored. Machine-learning classification algorithms were trained for the differentiation between Alzheimer's disease, bvFTD and controls. A total of 93 subjects (33 Alzheimer's disease, 24 bvFTD, seven svPPA, and 29 controls) were included in the study. Alzheimer's disease was the most impaired group in all tests and displayed specific abnormalities in some visually-guided saccade parameters, as pursuit error and horizontal prosaccade latency, which are theoretically closely linked to posterior brain regions. BvFTD patients showed deficits especially in the most cognitively demanding tasks, the antisaccade and memory saccade tests, which require a fine control from frontal lobe regions. SvPPA patients performed similarly to controls in most parameters except for a lower number of correct memory saccades. Pursuit error was significantly correlated with cognitive measures of constructional praxis and executive function and metabolism in right posterior middle temporal gyrus. The classification algorithms yielded an area under the curve of 97.5% for the differentiation of Alzheimer's disease vs. controls, 96.7% for bvFTD vs. controls, and 92.5% for Alzheimer's disease vs. bvFTD. In conclusion, patients with Alzheimer's disease, bvFTD and svPPA exhibit differentiating oculomotor patterns which reflect the characteristic neuroanatomical dis
Published: 2021

18. PÉREZ SUAY, A., La negociación individual y separada de las cláusulas de jurisdicción en contratos de transporte en régimen de conocimientos de embarque, Cizur Menor, Aranzadi, 2020, 296 pp.

Author: Gayán Rodríguez, Eloy and Gayán Rodríguez, Eloy
Published: 2021

19. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Author: Chia, Ruth, Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, American Genome Center, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, Logroscino, Giancarlo, Chia, Ruth, Chia, Ruth, Sabir, Marya S, Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H, Gustavsson, Emil, Walton, Ronald L, Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B, Diez-Fairen, Monica, Portley, Makayla K, Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G, Blauwendraat, Cornelis, Stone, David J, Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S, Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T, Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J, Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J, Morris, John C, Halliday, Glenda M, Van Deerlin, Vivianna M, Trojanowski, John Q, Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C, Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T, Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, American Genome Center, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G, Perkins, Matthew, Newell, Kathy L, Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C, Caraway, Chad A, Monuki, Edwin S, Brunetti, Maura, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Flanagan, Margaret E, Mao, Qinwen, Bigio, Eileen H, Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J, Tilley, Bension S, Gentleman, Steve, and Logroscino, Giancarlo
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

20. PÉREZ SUAY, A., La negociación individual y separada de las cláusulas de jurisdicción en contratos de transporte en régimen de conocimientos de embarque, Cizur Menor, Aranzadi, 2020, 296 pp.

Author: Gayán Rodríguez, Eloy and Gayán Rodríguez, Eloy
Published: 2021

21. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

22. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

23. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

24. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Fonds National de la Recherche - FnR [sponsor], Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, St George-Hyslop, Peter, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David S., Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, Sotis, Anthony R., Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa Mcgrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram G., Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Edwin S., Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James B., Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Pickering-Brown, Stuart, Faber, Kelley, Kukull, Walter A., Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Mike A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric J., Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis W., Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s disease and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
Published: 2021

25. Análisis de las posibles variaciones en las zonas inundables del río Jarama en el entorno de Belvis del Jarama por alteración-supresión de motas en su cauce

Author: Garrote Revilla, Julio, Martínez Santos, Pedro, Barriuso Rodríguez, Eloy, Garrote Revilla, Julio, Martínez Santos, Pedro, and Barriuso Rodríguez, Eloy
Abstract: El principal uso de los análisis de riesgos de inundación se centra en reducir al máximo el impacto de las inundaciones. Los incendios forestales junto con las inundaciones son los desastres naturales que producen más pérdidas tanto económicas como de vidas humanas en España. De acuerdo con el Instituto Geológico y Minero de España, los daños producidos por las inundaciones en un año alcanzan la cifra económica media de 800 millones de euros. En este Trabajo de Fin de Máster se analizan las posibles variaciones que podrían tener lugar en las zonas inundables del río Jarama en el entorno de la localidad de Belvis de Jarama debido a alteraciones topográficas de una mota localizada en la margen izquierda del río. También se ha considerado cómo esa modificación topográfica podría afectar a las posibles aportaciones de agua al acuífero y a la distribución de las zonas inundables aguas abajo. Para ello se han realizado una serie de simulaciones mediante el software de modelización hidráulica bidimensional Iber. Para llevar a cabo dichas simulaciones se han utilizado datos tales como: modelos digitales del terreno y datos de periodos de retorno y de máxima crecida ordinaria obtenidos con Afins y CAUMAX (CEDEX, 2014) respectivamente. Los usos del suelo asignados en la zona de estudio tienen una elaboración propia, delimitados de acuerdo con el Plan Nacional de Ortofotografía Aérea (PNOA). Con posterioridad a la ejecución de las simulaciones, se ha llevado a cabo una comparación de estas, la cual queda reflejada en función de tres variables principales: presencia o ausencia de una barrera topográfica, es decir, de la mota, duración del hidrograma utilizado en la simulación y magnitud de la avenida. Los resultados que se han obtenido a partir de la puesta en marcha de las simulaciones y de sus correspondientes interpretaciones y comparaciones, apuntan a una única solución, la cual será analizada desde diferentes puntos de vista.
Published: 2021

26. PÉREZ SUAY, A., La negociación individual y separada de las cláusulas de jurisdicción en contratos de transporte en régimen de conocimientos de embarque, Cizur Menor, Aranzadi, 2020, 296 pp.

Author: Gayán Rodríguez, Eloy and Gayán Rodríguez, Eloy
Published: 2021

27. PÉREZ SUAY, A., La negociación individual y separada de las cláusulas de jurisdicción en contratos de transporte en régimen de conocimientos de embarque, Cizur Menor, Aranzadi, 2020, 296 pp.

Author: Gayán-Rodríguez, Eloy and Gayán-Rodríguez, Eloy
Published: 2021

28. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Author: Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, Quintela, Inés, Instituto de Salud Carlos III, Grifols, La Caixa, European Research Council, Pérez-Tur, Jordi [0000-0002-9111-1712], Rojas, Itziar de, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, N. L., Stringa, N., Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Rossi, Giacomina, Tankard, R. M., Wiltfang, J., Giegling, Ina, Seidu, N. M., Dalmasso, Maria Carolina, Benussi, A., Boschi, Silvia, Sáez, María Eugenia, Binetti, Giuliano, Royo, José Luis, Pérez-Tur, Jordi, Spalletta, Gianfranco, Corbaton-Anchuelo, A., Froelich, L., Satizabal, Claudia L., Hagg, S., Ortega, G., Peters, Oliver, Vogelgsang, Jonathan, Serrano-Rios, M., Gil, S., Djurovic, Srdjan, Van Dongen, Jasper, Deramecourt, V., Kalaria, R. N., Wang, L. S., Goldhardt, O., Charbonnier, Camille, Farotti, Lucia, Kornhuber, Johannes, Andreassen, Ole A., Álvarez, Victoria, Herrmann, Martin J., Pasquier, Florence, Calero, Miguel, Holmes, Clive, Haapasalo, Annakaisa, Scherbaum, Norbert, Scheltens, Philip, Caffarra, P., Pineda, Juan A., Del Ser, Teodoro, Hort, Jakub, Espinosa, A., Bullido, María Jesús, Hampel, Harald, Medina, Miguel, Williams, Julie, Sims, Rebecca, Martinez-Larrad, M. T., Riederer, Peter, Esiri, M., Botne Sando, S., Grunblatt, E., Hoffmann, Per, Hiltunen, Mikko, Kern, Silke, Mendoza, Silvia, Kilander, Lena, Jessen, F., Ghidoni, R., Giedraitis, Vilmantas, Molina-Porcel, Laura, Sánchez-Juan, Pascual, Schmid, Matthias, van Duijn, Cornelia M., Antonell, A., Mir, Pablo, Moreno, F., Ferreira, Catarina B., Skrobot, Olivia, Sanchez-Valle, R., Chene, G., Duron, Emmanuelle, Martin Montes, Ángel, Ciccone, Simona, Piñol-Ripoll, Gerard, Ngandu, Tiia, Dardiotis, Efthimios, Scherer, Martin, Arosio, Beatrice, Meggy, A., Sotolongo-Grau, Oscar, Selbaek, Geir, Aarsland, D., Seshadri, Sudha, Bailly, Henri, Sánchez-García, Florentino, Roberto, Natalia, Armstrong, Nicola J., Farrer, Lindsay A., Popp, Julius, Riedel-Heller, Steffi, Fernández-Fuertes, Marta, Scamosci, Michela, Alcolea, Daniel, Rosas Allende, Irene, Marquié, Marta, Benussi, Luisa, Ewers, Michael, Antúnez, Carmen, van Broeckhoven, Christine, Masullo, C., Vyhnalek, Martin, Bossu, Paola, Appollonio, I., Mayeux, R., Lerch, Ondrej, Rábano, Alberto, Quenez, Olivier, Schneider, Anja, Wallon, David, Macías Sánchez, Juan, PGC-ALZ consortia, Yang, Q., Helisalmi, Seppo, Huisman, M., Lambert, Jean-Charles, Kehoe, Patrick G., Heneka, Michael T., DEGESCO consortium, Papenberg, Goran, Lowenmark, M., Frikke-Schmidt, Ruth, Fornage, Myriam, Kunkle, Brian W., Heilmann-Heimbach, Stefanie, Posthuma, Danielle, Tremolizzo, Lucio, Amouyel, Philippe, Franco-Macías, Emilio, Munoz-Fernandez, C., Sorbi, Sandro, Küçükali, Fahri, Dionigi Rossi, P., Huerto Vilas, Raquel, Spallazzi, Marco, Alarcón-Martín, Emilio, Maier, Wolfgang, de Mendonça, Alexandre, The GR@ACE study group, Benaque, Alba, EADB contributors, IGAP (ADGC, CHARGE, EADI, GERAD), van der Lee, Sven J., DeStefano, Anita, Lleó, Alberto, Kosmidis, Mary H., Rongve, A., Nicolas, Gael, Escott-Price, Valentina, Tybjaerg-Hansen, Anne, Chillotti, Caterina, Pastor, Pau, Buiza-Rueda, Dolores, Alegret, Montserrat, Lage, Carmen, Holmans, Peter A., Polak, Thomas, Pastor, Ana Belén, Nöthen, Markus M., García-Ribas, Guillermo, Pijnenburg, Yolande A L, Vidal, Jean-Sebastien, Squassina, Alessio, Kuulasmaa, Teemu, Pericak-Vance, M. A., Pisanu, Claudia, Fliessbach, Klaus, Grimmer, Timo, Galimberti, Daniela, Parnetti, L., López de Munain, Adolfo, Soininen, Hilkka, Carracedo, Ángel, Deckert, Jurgen, Karlsson, I. K., Buerger, Katharina, Clark, Christopher, Cecchetti, Roberta, Fostinelli, Silvia, Deniz-Naranjo, M. C., Engelborghs, S., Álvarez, Ignacio, Sakka, Paraskevi, Thomassen, Jesper Qvist, Ramirez, A., Holstege, Henne, Marshall, Rachel, Haines, Jonathan L., Hulsman, Marc, Kleineidam, Luca, Ferri, E., Pérez-Cordon, Alba, Menéndez-González, Manuel, van der Flier, Wiesje M., Rainero, Innocenzo, Rujescu, D., Wagner, Michael, Corma-Gómez, Anaïs, Lebouvier, T., Ruiz, Agustín, Vandenberghe, Rik, Weinhold, Leonie, Padovani, Alessandro, Diehl-Schmid, Janine, Mead, Simon, Fenoglio, Chiara, Conti, Elisa, Díez-Fairen, Mónica, Fischer, Peter, Abdelnour, Carla, Giaccone, G., González-Pérez, Antonio, Hartmann, Annette M., Hadjigeorgiou, Georgios, Zulaica, M., Sleegers, Kristel, Martínez Rodríguez, Carmen, García-González, Pablo, Rubino, Elisa, Bis, Joshua C., Orellana, Adelina, Zetterberg, Henrik, Schellenberg, Gerard D., Borroni, Barbara, Sanabria, Angela, Fortea, J., Reynolds, C. A., Gelpi, E., Bernal Sánchez-Arjona, María, Boerwinkle, Eric, Mather, K. A., Jian, X., Saltvedt, Ingvild, Frank-García, Ana, Rosende-Roca, Maitee, Kinhult Stahlbom, Anne, Hanon, Olivier, Skoog, Ingmar, Kivipelto, Miia, Lehtisalo, Jenni, García-Alberca, José María, Dufouil, Carole, Bellenguez, Celine, Ingelsson, Martin, Nacmias, B., Spottke, Annika, Ullgren, Abbe, Hausner, Lucrezia, Arias Pastor, Alfonso, Tsolaki, Magda, Seripa, Davide, Naj, A. C., Clarimón, Jordi, Nordestgaard, Borge G., Valero, Sergi, van Schoor, N. M., Scarpini, E., Graff, Caroline, Boada, Mercè, Tagliavini, F., Scarmeas, N., García-Madrona, Sebastián, Yannakoulia, Mary, Banaj, Nerisa, Blennow, Kaj, Duzel, Emrah, Tárraga, Lluís, Lemstra, A. W., Morgan, K., Kok, A. A. L., Bessi, Valentina, Baquero, Miquel, Rodríguez-Rodríguez, Eloy, Cervera-Carles, Laura, Archetti, Silvana, Grande, Giulia, Dichgans, Martin, Arcaro, Marina, Blesa, Rafael, Real, Luis Miguel, Ikram, M. Arfan, Mangialasche, Francesca, and Quintela, Inés
Abstract: Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.
Published: 2021

29. Identification and mitigation of a vibrational telescope systematic with application to spitzer

Author: National Aeronautics and Space Administration (US), Ministerio de Economía y Competitividad (España), European Commission, Challener, R.C., Harrington, J., Jenkins, James S., Kurtovic, N.T., Ramirez, Ricardo, McIntyre, K.J., Himes, M.D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, S., Ofir, A., Peña Rojas, Pablo A., Ribas, Ignasi, Rojo, Patricio, Kipping, D., Butler, Paul R., Amado, Pedro J., National Aeronautics and Space Administration (US), Ministerio de Economía y Competitividad (España), European Commission, Challener, R.C., Harrington, J., Jenkins, James S., Kurtovic, N.T., Ramirez, Ricardo, McIntyre, K.J., Himes, M.D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, S., Ofir, A., Peña Rojas, Pablo A., Ribas, Ignasi, Rojo, Patricio, Kipping, D., Butler, Paul R., and Amado, Pedro J.
Abstract: We observed Proxima Centauri with the Spitzer Space Telescope Infrared Array Camera five times in 2016 and 2017 to search for transits of Proxima Centauri b. Following standard analysis procedures, we found three asymmetric, transit-like events that are now understood to be vibrational systematics. This systematic is correlated with the width of the point-response function (PRF), which we measure with rotated and nonrotated-Gaussian fits with respect to the detector array. We show that the systematic can be removed with a novel application of an adaptive elliptical-aperture photometry technique, and compare the performance of this technique with fixed and variable circular-aperture photometry, using both BiLinearly Interpolated Subpixel Sensitivity (BLISS) maps and nonbinned Pixel-Level Decorrelation (PLD). With BLISS maps, elliptical photometry results in a lower standard deviation of normalized residuals, and reduced or similar correlated noise when compared to circular apertures. PLD prefers variable, circular apertures, but generally results in more correlated noise than BLISS. This vibrational effect is likely present in other telescopes and Spitzer observations, where correction could improve results. Our elliptical apertures can be applied to any photometry observations, and may be even more effective when applied to more circular PRFs than Spitzer's.
Published: 2021

30. De la expectación constitucional a la euforia supranacional: 1978-2018

Author: Gayán-Rodríguez, Eloy and Gayán-Rodríguez, Eloy
Abstract: [Resumen]: Un relato sobre los pioneros del Derecho internacional privado que culminaron con éxito su adaptación a los principios constitucionales del 78, tras recorrer un camino repleto de luces y sombras, de sobresaltos normativos, de interpretaciones críticas, para, finalmente, consolidar su disciplina. Luces y sombras que retornan con el actual proceso de internacionalidad constitucional, que devora las normas de Derecho internacional privado nacionales, el orden público en el que se sustentan. Un proceso dirigido y amparado por un Tribunal Europeo de Derechos Humanos que aventaja a las Constituciones nacionales, que ejerce su poder supranacional y convierte a los ordenamientos estatales, a sus principios y valores, en especies invasoras del Convenio Europeo de Derechos Humanos., [Abstract]: A story about the pioneers of Private International Law who successfully completed their adaptation to the constitutional principles of 78, after traveling a path full of lights and shadows, of normative shocks, of critical interpretations, to finally consolidate their discipline. Lights and shadows that return with the current process of constitutional internationality, which devours the norms of national Private International Law, the public order in which they are based. A process directed and protected by an European Court of Human Rights that is ahead of the national Constitutions, that exercises its supranational power and converts national law systems, their principles and values, into invaders species of the European Convention on Human Rights.
Published: 2020

31. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Author: van der Lee, Sven J, van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón, Jordi, van der Lee, Sven J, van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, and Clarimón, Jordi
Abstract: The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
Published: 2020

32. Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Author: van der Lee, Sven J, van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón, Jordi, van der Lee, Sven J, van der Lee, Sven J, Conway, Olivia J, Jansen, Iris, Carrasquillo, Minerva M, Kleineidam, Luca, van den Akker, Erik, Hernández, Isabel, van Eijk, Kristel R, Stringa, Najada, Chen, Jason A, Zettergren, Anna, Andlauer, Till FM, Diez-Fairen, Monica, Simon-Sanchez, Javier, Lleó, Alberto, Zetterberg, Henrik, Nygaard, Marianne, Blauwendraat, Cornelis, Savage, Jeanne E, Mengel-From, Jonas, Moreno-Grau, Sonia, Wagner, Michael, Fortea, Juan, Keogh, Michael J, Blennow, Kaj, Skoog, Ingmar, Friese, Manuel A, Pletnikova, Olga, Zulaica, Miren, Lage, Carmen, de Rojas, Itziar, Riedel-Heller, Steffi, Illán-Gala, Ignacio, Wei, Wei, Jeune, Bernard, Orellana, Adelina, Then Bergh, Florian, Wang, Xue, Hulsman, Marc, Beker, Nina, Tesi, Niccolo, Morris, Christopher M, Indakoetxea, Begoña, Collij, Lyduine E, Scherer, Martin, Morenas-Rodríguez, Estrella, Ironside, James W, van Berckel, Bart NM, Alcolea, Daniel, Wiendl, Heinz, Strickland, Samantha L, Pastor, Pau, Rodríguez Rodríguez, Eloy, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank), IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium), RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia), Netherlands Brain Bank (NBB), Boeve, Bradley F, Petersen, Ronald C, Ferman, Tanis J, van Gerpen, Jay A, Reinders, Marcel JT, Uitti, Ryan J, Tárraga, Lluís, Maier, Wolfgang, Dols-Icardo, Oriol, Kawalia, Amit, Dalmasso, Maria Carolina, Boada, Mercè, Zettl, Uwe K, van Schoor, Natasja M, Beekman, Marian, Allen, Mariet, Masliah, Eliezer, de Munain, Adolfo López, Pantelyat, Alexander, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Knopman, David, Rademakers, Rosa, Lemstra, Afina W, Pijnenburg, Yolande AL, Scheltens, Philip, Gasser, Thomas, Chinnery, Patrick F, Hemmer, Bernhard, Huisman, Martijn A, Troncoso, Juan, Moreno, Fermin, Nohr, Ellen A, Sørensen, Thorkild IA, Heutink, Peter, Sánchez-Juan, Pascual, Posthuma, Danielle, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, and Clarimón, Jordi
Abstract: The IPDGC (The International Parkinson Disease Genomics Consortium) and EADB (Alzheimer Disease European DNA biobank) are listed correctly as an author to the article, however, they were incorrectly listed more than once.
Published: 2020

33. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Author: Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, George-Hyslop, Peter St, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, ???, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram, Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Ed, Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James, Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Brown, Stuart Pickering, Faber, Kelley, Kukull, Walter, Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Michael A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric, Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis, Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, George-Hyslop, Peter St, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, ???, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram, Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Ed, Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James, Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Brown, Stuart Pickering, Faber, Kelley, Kukull, Walter, Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Michael A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric, Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis, Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.Competing Interest StatementThomas G. Beach is a consultant for Prothena, Vivid Genomics and Avid Radiopharmaceuticals. He is a scientific advisory board member for Vivid Genomics. John A. Hardy, Huw R. Morris, Stuart Pickering-Brown, Andrew B. Singleton, and Bryan J. Traynor hold US, EU and Canadian patents on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72. Michael A. Nalls is supported by a consulting contract between Data Tecnica International and the National Institute on Aging, NIH, Bethesda, MD, USA; as a possible conflict of interest Dr. Nalls also consults for Neuron23 Inc., Lysosomal Therapeutics Inc., Illumina Inc., the Michael J. Fox Foundation and Vivid Genomics among others. Jose A. Palma is an editorial board member of Movement Disorders, Parkinsonism & Related Disorders, BMC Neurology, and Clinical Autonomic Research. Bradley F. Boeve, James Leverenz, and Sonja W. Scholz serve on the Scientific Advisory Council of the Lewy Body Dementia Association. Sonja W. Scholz is an editorial board member for the Journal of Parkinson's Disease. Bryan J. Traynor is an editorial board member for JAMA Neurology; Journal of Neurology, Neurosurgery, and Psychiatry; Brain; and Neurobiology of Aging. Zbigniew K. Wszolek serve
Published: 2020

34. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Author: Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, George-Hyslop, Peter St, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, ???, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram, Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Ed, Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James, Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Brown, Stuart Pickering, Faber, Kelley, Kukull, Walter, Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Michael A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric, Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis, Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Chia, Ruth, Sabir, Marya S., Bandres-Ciga, Sara, Saez-Atienzar, Sara, Reynolds, Regina H., Gustavsson, Emil, Walton, Ronald L., Ahmed, Sarah, Viollet, Coralie, Ding, Jinhui, Makarious, Mary B., Diez-Fairen, Monica, Portley, Makayla K., Shah, Zalak, Abramzon, Yevgeniya, Hernandez, Dena G., Blauwendraat, Cornelis, Stone, David J., Eicher, John, Parkkinen, Laura, Ansorge, Olaf, Clark, Lorraine, Honig, Lawrence S., Marder, Karen, Lemstra, Afina, George-Hyslop, Peter St, Londos, Elisabet, Morgan, Kevin, Lashley, Tammaryn, Warner, Thomas T., Jaunmuktane, Zane, Galasko, Douglas, Santana, Isabel, Tienari, Pentti J., Myllykangas, Liisa, Oinas, Minna, Cairns, Nigel J., Morris, John C., Halliday, Glenda M., Van Deerlin, Vivianna M., Trojanowski, John Q., Grassano, Maurizio, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Brett, Francesca, Gan-Or, Ziv, Geiger, Joshua T., Moore, Anni, May, Patrick, Krüger, Rejko, Goldstein, David, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen, ???, Palma, Jose-Alberto, Kaufmann, Horacio, Shakkottai, Vikram, Perkins, Matthew, Newell, Kathy L., Gasser, Thomas, Schulte, Claudia, Landi, Francesco, Salvi, Erika, Cusi, Daniele, Masliah, Eliezer, Kim, Ronald C., Caraway, Chad A., Monuki, Ed, Brunetti, Maura, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Flanagan, Margaret E., Mao, Qinwen, Bigio, Eileen H., Rodríguez-Rodríguez, Eloy, Infante, Jon, Lage, Carmen, González-Aramburu, Isabel, Sanchez-Juan, Pascual, Ghetti, Bernardino, Keith, Julia, Black, Sandra E., Masellis, Mario, Rogaeva, Ekaterina, Duyckaerts, Charles, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Barrett, Matthew J., Tilley, Bension S., Gentleman, Steve, Logroscino, Giancarlo, Serrano, Geidy E., Beach, Thomas G., McKeith, Ian G., Thomas, Alan J., Attems, Johannes, Morris, Christopher M., Palmer, Laura, Love, Seth, Troakes, Claire, Al-Sarraj, Safa, Hodges, Angela K., Aarsland, Dag, Klein, Gregory, Kaiser, Scott M., Woltjer, Randy, Pastor, Pau, Bekris, Lynn M., Leverenz, James, Besser, Lilah M., Kuzma, Amanda, Renton, Alan E., Goate, Alison, Bennett, David A., Scherzer, Clemens R., Morris, Huw R., Ferrari, Raffaele, Albani, Diego, Brown, Stuart Pickering, Faber, Kelley, Kukull, Walter, Morenas-Rodriguez, Estrella, Lleó, Alberto, Fortea, Juan, Alcolea, Daniel, Clarimon, Jordi, Nalls, Michael A., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Foroud, Tatiana M., Graff-Radford, Neill R., Wszolek, Zbigniew K., Ferman, Tanis, Boeve, Bradley F., Hardy, John A., Topol, Eric, Torkamani, Ali, Singleton, Andrew B., Ryten, Mina, Dickson, Dennis, Chiò, Adriano, Ross, Owen A., Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., and Scholz, Sonja W.
Abstract: The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.Competing Interest StatementThomas G. Beach is a consultant for Prothena, Vivid Genomics and Avid Radiopharmaceuticals. He is a scientific advisory board member for Vivid Genomics. John A. Hardy, Huw R. Morris, Stuart Pickering-Brown, Andrew B. Singleton, and Bryan J. Traynor hold US, EU and Canadian patents on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9orf72. Michael A. Nalls is supported by a consulting contract between Data Tecnica International and the National Institute on Aging, NIH, Bethesda, MD, USA; as a possible conflict of interest Dr. Nalls also consults for Neuron23 Inc., Lysosomal Therapeutics Inc., Illumina Inc., the Michael J. Fox Foundation and Vivid Genomics among others. Jose A. Palma is an editorial board member of Movement Disorders, Parkinsonism & Related Disorders, BMC Neurology, and Clinical Autonomic Research. Bradley F. Boeve, James Leverenz, and Sonja W. Scholz serve on the Scientific Advisory Council of the Lewy Body Dementia Association. Sonja W. Scholz is an editorial board member for the Journal of Parkinson's Disease. Bryan J. Traynor is an editorial board member for JAMA Neurology; Journal of Neurology, Neurosurgery, and Psychiatry; Brain; and Neurobiology of Aging. Zbigniew K. Wszolek serve
Published: 2020

35. Monitoring the radio emission of Proxima Centauri

Author: Pérez-Torres, Miguel, Gómez, José Francisco, Ortiz, José Luis, Leto, Paolo, Anglada, Guillem, Gómez, José Luis, Rodríguez, Eloy, Trigilio, Corrado, Amado, Pedro J., Alberdi, Antonio, Anglada-Escudé, Guillem, Osorio, Mayra, Umana, Grazia, Berdiñas, Zaira, López-González, María José, Morales, Nicolás, Rodríguez-López, Cristina, Chibueze, James, Pérez-Torres, Miguel, Gómez, José Francisco, Ortiz, José Luis, Leto, Paolo, Anglada, Guillem, Gómez, José Luis, Rodríguez, Eloy, Trigilio, Corrado, Amado, Pedro J., Alberdi, Antonio, Anglada-Escudé, Guillem, Osorio, Mayra, Umana, Grazia, Berdiñas, Zaira, López-González, María José, Morales, Nicolás, Rodríguez-López, Cristina, and Chibueze, James
Abstract: We present results from the most comprehensive radio monitoring campaign towards the closest star to our Sun, Proxima Centauri. We report 1.1 to 3.1 GHz observations with the Australian Telescope Compact Array over 18 consecutive days in April 2017. We detect radio emission from Proxima Centauri for most of the observing sessions, which spanned $\sim$1.6 orbital periods of the planet Proxima b. The radio emission is stronger at the low-frequency band, centered around 1.6 GHz, and is consistent with the expected electron-cyclotron frequency for the known star's magnetic field intensity of about 600 Gauss. The 1.6 GHz light curve shows an emission pattern that is consistent with the orbital period of the planet Proxima b around the star Proxima, with its maxima of emission happening near the quadratures. We also observed two short-duration (a few minutes) flares and a long-duration (about three days) burst whose peaks happened close to the quadratures. We find that the frequency, large degree of circular polarization, change of the sign of circular polarization, and intensity of the observed radio emission are all consistent with expectations from electron cyclotron-maser emission arising from sub-Alfv\'enic star-planet interaction. We interpret our radio observations as signatures of interaction between the planet Proxima b and its host star Proxima. We advocate for monitoring other dwarf stars with planets to eventually reveal periodic radio emission due to star-planet interaction, thus opening a new avenue for exoplanet hunting and the study of a new field of exoplanet-star plasma interaction., Comment: 14 pages, 11 figures. Accepted on December 2, 2020 in A&A (main journal), several typos corrected
Published: 2020
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36. Identification and Mitigation of a Vibrational Telescope Systematic with Application to Spitzer

Author: Challener, Ryan C., Harrington, Joseph, Jenkins, James, Kurtovic, Nicolás T., Ramirez, Ricardo, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Palle, Enric, Murgas, Felipe, Challener, Ryan C., Harrington, Joseph, Jenkins, James, Kurtovic, Nicolás T., Ramirez, Ricardo, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Palle, Enric, and Murgas, Felipe
Abstract: We observed Proxima Centauri with the Spitzer Space Telescope InfraRed Array Camera (IRAC) five times in 2016 and 2017 to search for transits of Proxima Centauri b. Following standard analysis procedures, we found three asymmetric, transit-like events that are now understood to be vibrational systematics. This systematic is correlated with the width of the point-response function (PRF), which we measure with rotated and non-rotated Gaussian fits with respect to the detecor array. We show that the systematic can be removed with a novel application of an adaptive elliptical-aperture photometry technique, and compare the performance of this technique with fixed and variable circular-aperture photometry, using both BiLinearly Interpolated Subpixel Sensitivity (BLISS) maps and non-binned Pixel-Level Decorrelation (PLD). With BLISS maps, elliptical photometry results in a lower standard deviation of normalized residuals, and reduced or similar correlated noise when compared to circular apertures. PLD prefers variable, circular apertures, but generally results in more correlated noise than BLISS. This vibrational effect is likely present in other telescopes and Spitzer observations, where correction could improve results. Our elliptical apertures can be applied to any photometry observations, and may be even more effective when applied to more circular PRFs than Spitzer's., Comment: 18 pages, 12 figures, accepted for publication in PSJ
Published: 2020

37. Proxima Centauri b is not a transiting exoplanet

Author: Jenkins, James S., Harrington, Joseph, Challener, Ryan C., Kurtovic, Nicolás T., Ramirez, Ricardo, Peña, Jose, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Kempton, Eliza M. -R., Palle, Enric, Murgas, Felipe, Jenkins, James S., Harrington, Joseph, Challener, Ryan C., Kurtovic, Nicolás T., Ramirez, Ricardo, Peña, Jose, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Kempton, Eliza M. -R., Palle, Enric, and Murgas, Felipe
Abstract: We report Spitzer Space Telescope observations during predicted transits of the exoplanet Proxima Centauri b. As the nearest terrestrial habitable-zone planet we will ever discover, any potential transit of Proxima b would place strong constraints on its radius, bulk density, and atmosphere. Subsequent transmission spectroscopy and secondary-eclipse measurements could then probe the atmospheric chemistry, physical processes, and orbit, including a search for biosignatures. However, our photometric results rule out planetary transits at the 200~ppm level at 4.5$~{\mu}m$, yielding a 3$\sigma$ upper radius limit of 0.4~$R_\rm{\oplus}$ (Earth radii). Previous claims of possible transits from optical ground- and space-based photometry were likely correlated noise in the data from Proxima Centauri's frequent flaring. Follow-up observations should focus on planetary radio emission, phase curves, and direct imaging. Our study indicates dramatically reduced stellar activity at near-to-mid infrared wavelengths, compared to the optical. Proxima b is an ideal target for space-based infrared telescopes, if their instruments can be configured to handle Proxima's brightness., Comment: 8 pages, 3 figures, 2 tables, accepted for publication in MNRAS
Published: 2019
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38. Proxima Centauri b is not a transiting exoplanet

Author: Jenkins, James S., Harrington, Joseph, Challener, Ryan C., Kurtovic, Nicolás T., Ramirez, Ricardo, Peña, Jose, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Kempton, Eliza M. -R., Palle, Enric, Murgas, Felipe, Jenkins, James S., Harrington, Joseph, Challener, Ryan C., Kurtovic, Nicolás T., Ramirez, Ricardo, Peña, Jose, McIntyre, Kathleen J., Himes, Michael D., Rodríguez, Eloy, Anglada-Escudé, Guillem, Dreizler, Stefan, Ofir, Aviv, Rojas, Pablo A. Peña, Ribas, Ignasi, Rojo, Patricio, Kipping, David, Butler, R. Paul, Amado, Pedro J., Rodríguez-López, Cristina, Kempton, Eliza M. -R., Palle, Enric, and Murgas, Felipe
Abstract: We report Spitzer Space Telescope observations during predicted transits of the exoplanet Proxima Centauri b. As the nearest terrestrial habitable-zone planet we will ever discover, any potential transit of Proxima b would place strong constraints on its radius, bulk density, and atmosphere. Subsequent transmission spectroscopy and secondary-eclipse measurements could then probe the atmospheric chemistry, physical processes, and orbit, including a search for biosignatures. However, our photometric results rule out planetary transits at the 200~ppm level at 4.5$~{\mu}m$, yielding a 3$\sigma$ upper radius limit of 0.4~$R_\rm{\oplus}$ (Earth radii). Previous claims of possible transits from optical ground- and space-based photometry were likely correlated noise in the data from Proxima Centauri's frequent flaring. Follow-up observations should focus on planetary radio emission, phase curves, and direct imaging. Our study indicates dramatically reduced stellar activity at near-to-mid infrared wavelengths, compared to the optical. Proxima b is an ideal target for space-based infrared telescopes, if their instruments can be configured to handle Proxima's brightness., Comment: 8 pages, 3 figures, 2 tables, accepted for publication in MNRAS
Published: 2019
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39. The epistasis project: A multi-cohort study of the effects of BDNF, DBH, and SORT1 epistasis on Alzheimer's disease risk

Author: Alzheimer's Research UK, Alzheimer's BRACE, Medical Research Council (UK), NIHR Biomedical Research Centre (UK), Instituto de Investigación Marqués de Valdecilla, Instituto de Salud Carlos III, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Erasmus University Rotterdam, Netherlands Organisation for Health Research and Development, Ministerio de Educación, Cultura y Deporte (España), Ministerio de Sanidad (España), European Commission, Netherlands Organization for Scientific Research, Belbin, Olivia, Morgan, Kevin, Medway, Chris, Warden, Donald, Cortina-Borja,Mario, Van Dujin, Cornelia, M, Adams, Heiab H.H., Frank-García, Ana, Brookes, Keeley, Sánchez-Juan, Pascual, Álvarez, Victoria, Heun, Reinhard, Kölsch, Heike, Coto, Eliecer, Kehoe, Patrick G., Rodríguez-Rodríguez, Eloy, Bullido, María Jesús, Ikram, M. Arfan, Smith A. David, Lehmann, Donald J., Alzheimer's Research UK, Alzheimer's BRACE, Medical Research Council (UK), NIHR Biomedical Research Centre (UK), Instituto de Investigación Marqués de Valdecilla, Instituto de Salud Carlos III, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Erasmus University Rotterdam, Netherlands Organisation for Health Research and Development, Ministerio de Educación, Cultura y Deporte (España), Ministerio de Sanidad (España), European Commission, Netherlands Organization for Scientific Research, Belbin, Olivia, Morgan, Kevin, Medway, Chris, Warden, Donald, Cortina-Borja,Mario, Van Dujin, Cornelia, M, Adams, Heiab H.H., Frank-García, Ana, Brookes, Keeley, Sánchez-Juan, Pascual, Álvarez, Victoria, Heun, Reinhard, Kölsch, Heike, Coto, Eliecer, Kehoe, Patrick G., Rodríguez-Rodríguez, Eloy, Bullido, María Jesús, Ikram, M. Arfan, Smith A. David, and Lehmann, Donald J.
Abstract: Pre-synaptic secretion of brain-derived neurotrophic factor (BDNF) from noradrenergic neurons may protect the Alzheimer's disease (AD) brain from amyloid pathology. While the BDNF polymorphism (rs6265) is associated with faster cognitive decline and increased hippocampal atrophy, a replicable genetic association of BDNF with AD risk has yet to be demonstrated. This could be due to masking by underlying epistatic interactions between BDNF and other loci that encode proteins involved in moderating BDNF secretion (DBH and Sortilin).We performed a multi-cohort case-control association study of the BDNF,DBH, and SORT1 loci comprising 5,682 controls and 2,454ADpatients from Northern Europe(87% of samples) and Spain (13%). The BDNF locus was associated with increased AD risk (odds ratios; OR= 1.1-1.2, p = 0.005-0.3), an effect size that was consistent in the Northern European (OR = 1.1-1.2, p = 0.002-0.8) but not the smaller Spanish (OR = 0.8-1.6, p = 0.4-1.0) subset. A synergistic interaction between BDNF and sex (synergy factor; SF = 1.3-1.5 p = 0.002-0.02) translated to a greater risk of AD associated with BDNF in women (OR = 1.2-1.3, p = 0.007-0.00008) than men (OR = 0.9-1.0, p = 0.3-0.6). While the DBH polymorphism (rs1611115) was also associated with increased AD risk (OR = 1.1, p = 0.04) the synergistic interaction (SF = 2.2, p = 0.007) betweenBDNF(rs6265) andDBH(rs1611115) contributed greater AD risk than either gene alone, an effect that was greater in women (SF = 2.4, p = 0.04) than men (SF = 2.0, p = 0.2). These data support a complex genetic interaction at loci encoding proteins implicated in the DBH-BDNF inflammatory pathway that modifies AD risk, particularly in women.
Published: 2019

40. Diseño de una instalación solar térmica para calentamiento de agua caliente sanitaria en una residencia de mayores

Author: Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, García Rodríguez, Eloy José, Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, and García Rodríguez, Eloy José
Abstract: El siguiente trabajo trata el estudio y dimensionado de una instalación solar térmica de baja temperatura para calentamiento de ACS. El diseño de dicha instalación se ha realizado para la residencia de mayores Claret de Sevilla. Este documento consta de cinco documentos básicos: Memoria descriptiva, Memoria de cálculo, Pliegos de condiciones técnicas y administrativas, Presupuesto y Planos. La función de cada documento básico queda definida por su propio nombre, no obstante, se dedica un breve apartado al inicio de cada documento para especificar su cometido. En dicho trabajo se ha utilizado la herramienta CHEQ4, herramienta desarrollada por el IDAE y la ASIT para la validación del cumplimiento de la contribución solar mínima. Con dicha herramienta se han realizado una serie de curvas donde se puede observar las prestaciones de la instalación cuando se varía el volumen de acumulación, la superficie de captación, o ambos. El sistema completo y cada uno de sus componentes han sido dimensionados respetando la normativa vigente, cumpliendo en todo momento con el CTE.
Published: 2017

41. A Pulsational Time-evolution Study for the $\delta$ Scuti Star AN Lyncis

Author: Zhou, A. -Y., Hintz, Eric G., Schoonmaker, Jeremy N., Rodríguez, Eloy, Costa, Victor, Lopez-Gonzalez, M. J., Smith, Horace A., Sanders, Nathan, Monninger, Gerold, Pagel, Lienhard, Zhou, A. -Y., Hintz, Eric G., Schoonmaker, Jeremy N., Rodríguez, Eloy, Costa, Victor, Lopez-Gonzalez, M. J., Smith, Horace A., Sanders, Nathan, Monninger, Gerold, and Pagel, Lienhard
Abstract: This paper presents a large amount of observations for the $\delta$ Scuti star AN Lyncis carried out in 2001--2012. The extensive observations include two tri-continent campaigns coordinated in 2002 and 2011, respectively, and several single-site contributions throughout the period. The data in total have more than 104100 raw CCD frames and photoelectric records, which consist of 165 nights (about 816 hours) spanning over 3778 days. The final reduced light curves have more than 26500 data points (including those 3462 unpublished BYU data), from which we determined 306 new timings of maximum light. A time-dependent behaviour study based on all available data indicates cyclic amplitude variability as well as period change [for the main periodicity]. Orbital sinusoid fittings to $(O-C)$ residuals and pulsation amplitudes may account for their variations being caused by the light-time effect of AN Lyn in a binary system. The orbital period is about 26--30 years. Current results support the binarity of AN Lyn, first suspected by Zhou (2002). We further show the detailed time evolution structure of the pulsation of AN Lyn as function of both time and period through wavelet analyses., Comment: 23 figures, 5 tables, reduced data, maxima, and raw data available. Submitted initial manuscript, in revision in response to referee's report
Published: 2017

42. Diseño de una instalación solar térmica para calentamiento de agua caliente sanitaria en una residencia de mayores

Author: Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, García Rodríguez, Eloy José, Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, and García Rodríguez, Eloy José
Abstract: El siguiente trabajo trata el estudio y dimensionado de una instalación solar térmica de baja temperatura para calentamiento de ACS. El diseño de dicha instalación se ha realizado para la residencia de mayores Claret de Sevilla. Este documento consta de cinco documentos básicos: Memoria descriptiva, Memoria de cálculo, Pliegos de condiciones técnicas y administrativas, Presupuesto y Planos. La función de cada documento básico queda definida por su propio nombre, no obstante, se dedica un breve apartado al inicio de cada documento para especificar su cometido. En dicho trabajo se ha utilizado la herramienta CHEQ4, herramienta desarrollada por el IDAE y la ASIT para la validación del cumplimiento de la contribución solar mínima. Con dicha herramienta se han realizado una serie de curvas donde se puede observar las prestaciones de la instalación cuando se varía el volumen de acumulación, la superficie de captación, o ambos. El sistema completo y cada uno de sus componentes han sido dimensionados respetando la normativa vigente, cumpliendo en todo momento con el CTE.
Published: 2017

43. Diseño de una instalación solar térmica para calentamiento de agua caliente sanitaria en una residencia de mayores

Author: Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, García Rodríguez, Eloy José, Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, and García Rodríguez, Eloy José
Abstract: El siguiente trabajo trata el estudio y dimensionado de una instalación solar térmica de baja temperatura para calentamiento de ACS. El diseño de dicha instalación se ha realizado para la residencia de mayores Claret de Sevilla. Este documento consta de cinco documentos básicos: Memoria descriptiva, Memoria de cálculo, Pliegos de condiciones técnicas y administrativas, Presupuesto y Planos. La función de cada documento básico queda definida por su propio nombre, no obstante, se dedica un breve apartado al inicio de cada documento para especificar su cometido. En dicho trabajo se ha utilizado la herramienta CHEQ4, herramienta desarrollada por el IDAE y la ASIT para la validación del cumplimiento de la contribución solar mínima. Con dicha herramienta se han realizado una serie de curvas donde se puede observar las prestaciones de la instalación cuando se varía el volumen de acumulación, la superficie de captación, o ambos. El sistema completo y cada uno de sus componentes han sido dimensionados respetando la normativa vigente, cumpliendo en todo momento con el CTE.
Published: 2017

44. Diseño de una instalación solar térmica para calentamiento de agua caliente sanitaria en una residencia de mayores

Author: Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, García Rodríguez, Eloy José, Guerra Macho, José Julio, Universidad de Sevilla. Departamento de Ingeniería Energética, and García Rodríguez, Eloy José
Abstract: El siguiente trabajo trata el estudio y dimensionado de una instalación solar térmica de baja temperatura para calentamiento de ACS. El diseño de dicha instalación se ha realizado para la residencia de mayores Claret de Sevilla. Este documento consta de cinco documentos básicos: Memoria descriptiva, Memoria de cálculo, Pliegos de condiciones técnicas y administrativas, Presupuesto y Planos. La función de cada documento básico queda definida por su propio nombre, no obstante, se dedica un breve apartado al inicio de cada documento para especificar su cometido. En dicho trabajo se ha utilizado la herramienta CHEQ4, herramienta desarrollada por el IDAE y la ASIT para la validación del cumplimiento de la contribución solar mínima. Con dicha herramienta se han realizado una serie de curvas donde se puede observar las prestaciones de la instalación cuando se varía el volumen de acumulación, la superficie de captación, o ambos. El sistema completo y cada uno de sus componentes han sido dimensionados respetando la normativa vigente, cumpliendo en todo momento con el CTE.
Published: 2017

45. A Pulsational Time-evolution Study for the $\delta$ Scuti Star AN Lyncis

Author: Zhou, A. -Y., Hintz, Eric G., Schoonmaker, Jeremy N., Rodríguez, Eloy, Costa, Victor, Lopez-Gonzalez, M. J., Smith, Horace A., Sanders, Nathan, Monninger, Gerold, Pagel, Lienhard, Zhou, A. -Y., Hintz, Eric G., Schoonmaker, Jeremy N., Rodríguez, Eloy, Costa, Victor, Lopez-Gonzalez, M. J., Smith, Horace A., Sanders, Nathan, Monninger, Gerold, and Pagel, Lienhard
Abstract: This paper presents a large amount of observations for the $\delta$ Scuti star AN Lyncis carried out in 2001--2012. The extensive observations include two tri-continent campaigns coordinated in 2002 and 2011, respectively, and several single-site contributions throughout the period. The data in total have more than 104100 raw CCD frames and photoelectric records, which consist of 165 nights (about 816 hours) spanning over 3778 days. The final reduced light curves have more than 26500 data points (including those 3462 unpublished BYU data), from which we determined 306 new timings of maximum light. A time-dependent behaviour study based on all available data indicates cyclic amplitude variability as well as period change [for the main periodicity]. Orbital sinusoid fittings to $(O-C)$ residuals and pulsation amplitudes may account for their variations being caused by the light-time effect of AN Lyn in a binary system. The orbital period is about 26--30 years. Current results support the binarity of AN Lyn, first suspected by Zhou (2002). We further show the detailed time evolution structure of the pulsation of AN Lyn as function of both time and period through wavelet analyses., Comment: 23 figures, 5 tables, reduced data, maxima, and raw data available. Submitted initial manuscript, in revision in response to referee's report
Published: 2017

46. A terrestrial planet candidate in a temperate orbit around Proxima Centauri

Author: Anglada-Escudé, Guillem, Amado, Pedro J., Barnes, John, Berdiñas, Zaira M., Butler, R. Paul, Coleman, Gavin A. L., de la Cueva, Ignacio, Dreizler, Stefan, Endl, Michael, Giesers, Benjamin, Jeffers, Sandra V., Jenkins, James S., Jones, Hugh R. A., Kiraga, Marcin, Kürster, Martin, López-González, María J., Marvin, Christopher J., Morales, Nicolás, Morin, Julien, Nelson, Richard P., Ortiz, José L., Ofir, Aviv, Paardekooper, Sijme-Jan, Reiners, Ansgar, Rodríguez, Eloy, Rodríguez-López, Cristina, Sarmiento, Luis F., Strachan, John P., Tsapras, Yiannis, Tuomi, Mikko, Zechmeister, Mathias, Anglada-Escudé, Guillem, Amado, Pedro J., Barnes, John, Berdiñas, Zaira M., Butler, R. Paul, Coleman, Gavin A. L., de la Cueva, Ignacio, Dreizler, Stefan, Endl, Michael, Giesers, Benjamin, Jeffers, Sandra V., Jenkins, James S., Jones, Hugh R. A., Kiraga, Marcin, Kürster, Martin, López-González, María J., Marvin, Christopher J., Morales, Nicolás, Morin, Julien, Nelson, Richard P., Ortiz, José L., Ofir, Aviv, Paardekooper, Sijme-Jan, Reiners, Ansgar, Rodríguez, Eloy, Rodríguez-López, Cristina, Sarmiento, Luis F., Strachan, John P., Tsapras, Yiannis, Tuomi, Mikko, and Zechmeister, Mathias
Abstract: At a distance of 1.295 parsecs, the red-dwarf Proxima Centauri ($\alpha$ Centauri C, GL 551, HIP 70890, or simply Proxima) is the Sun's closest stellar neighbor and one of the best studied low-mass stars. It has an effective temperature of only $\sim$ 3050 K, a luminosity of $\sim$0.1 per cent solar, a measured radius of 0.14 R$_\odot$ and a mass of about 12 per cent the mass of the Sun. Although Proxima is considered a moderately active star, its rotation period is $\sim$ 83 days, and its quiescent activity levels and X-ray luminosity are comparable to the Sun's. New observations reveal the presence of a small planet orbiting Proxima with a minimum mass of 1.3~Earth masses and an orbital period of $\sim$11.2 days. Its orbital semi-major axis is $\sim0.05$ AU, with an equilibrium temperature in the range where water could be liquid on its surface., Comment: Version accepted for publication by Nature (unedited, July 7th, 2016), figures inserted in text for easier read. Article body : 10 pages, 3 figures, 1 table. Methods section : 23 pages, 9 figures, 1 table. IMPORTANT NOTE : Acknowledgment to IAA/CSIC researchers Javier Pascual Granado and Rafael Garrido added for useful discussions and feedback on the mathematical properties of time-series
Published: 2016
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47. A terrestrial planet candidate in a temperate orbit around Proxima Centauri

Author: Anglada-Escudé, Guillem, Amado, Pedro J., Barnes, John, Berdiñas, Zaira M., Butler, R. Paul, Coleman, Gavin A. L., de la Cueva, Ignacio, Dreizler, Stefan, Endl, Michael, Giesers, Benjamin, Jeffers, Sandra V., Jenkins, James S., Jones, Hugh R. A., Kiraga, Marcin, Kürster, Martin, López-González, María J., Marvin, Christopher J., Morales, Nicolás, Morin, Julien, Nelson, Richard P., Ortiz, José L., Ofir, Aviv, Paardekooper, Sijme-Jan, Reiners, Ansgar, Rodríguez, Eloy, Rodríguez-López, Cristina, Sarmiento, Luis F., Strachan, John P., Tsapras, Yiannis, Tuomi, Mikko, Zechmeister, Mathias, Anglada-Escudé, Guillem, Amado, Pedro J., Barnes, John, Berdiñas, Zaira M., Butler, R. Paul, Coleman, Gavin A. L., de la Cueva, Ignacio, Dreizler, Stefan, Endl, Michael, Giesers, Benjamin, Jeffers, Sandra V., Jenkins, James S., Jones, Hugh R. A., Kiraga, Marcin, Kürster, Martin, López-González, María J., Marvin, Christopher J., Morales, Nicolás, Morin, Julien, Nelson, Richard P., Ortiz, José L., Ofir, Aviv, Paardekooper, Sijme-Jan, Reiners, Ansgar, Rodríguez, Eloy, Rodríguez-López, Cristina, Sarmiento, Luis F., Strachan, John P., Tsapras, Yiannis, Tuomi, Mikko, and Zechmeister, Mathias
Abstract: At a distance of 1.295 parsecs, the red-dwarf Proxima Centauri ($\alpha$ Centauri C, GL 551, HIP 70890, or simply Proxima) is the Sun's closest stellar neighbor and one of the best studied low-mass stars. It has an effective temperature of only $\sim$ 3050 K, a luminosity of $\sim$0.1 per cent solar, a measured radius of 0.14 R$_\odot$ and a mass of about 12 per cent the mass of the Sun. Although Proxima is considered a moderately active star, its rotation period is $\sim$ 83 days, and its quiescent activity levels and X-ray luminosity are comparable to the Sun's. New observations reveal the presence of a small planet orbiting Proxima with a minimum mass of 1.3~Earth masses and an orbital period of $\sim$11.2 days. Its orbital semi-major axis is $\sim0.05$ AU, with an equilibrium temperature in the range where water could be liquid on its surface., Comment: Version accepted for publication by Nature (unedited, July 7th, 2016), figures inserted in text for easier read. Article body : 10 pages, 3 figures, 1 table. Methods section : 23 pages, 9 figures, 1 table. IMPORTANT NOTE : Acknowledgment to IAA/CSIC researchers Javier Pascual Granado and Rafael Garrido added for useful discussions and feedback on the mathematical properties of time-series
Published: 2016
Full Text: View/download PDF

48. Prevalence of cerebral amyloid pathology in persons without dementia: a meta-analysis.

Author: Jansen, Willemijn J, Ossenkoppele, Rik, Knol, Dirk L, Tijms, Betty M, Scheltens, Philip, Verhey, Frans R J, Visser, Pieter Jelle, Aalten, Pauline, Aarsland, Dag, Alcolea, Daniel, Alexander, Myriam, Almdahl, Ina S, Arnold, Steven E, Baldeiras, Inês, Barthel, Henryk, van Berckel, Bart N M, Bibeau, Kristen, Blennow, Kaj, Brooks, David J, van Buchem, Mark A, Camus, Vincent, Cavedo, Enrica, Chen, Kewei, Chetelat, Gael, Cohen, Ann D, Drzezga, Alexander, Engelborghs, Sebastiaan, Fagan, Anne M, Fladby, Tormod, Fleisher, Adam S, van der Flier, Wiesje M, Ford, Lisa, Förster, Stefan, Fortea, Juan, Foskett, Nadia, Frederiksen, Kristian S, Freund-Levi, Yvonne, Frisoni, Giovanni B, Froelich, Lutz, Gabryelewicz, Tomasz, Gill, Kiran Dip, Gkatzima, Olymbia, Gómez-Tortosa, Estrella, Gordon, Mark Forrest, Grimmer, Timo, Hampel, Harald, Hausner, Lucrezia, Hellwig, Sabine, Herukka, Sanna-Kaisa, Hildebrandt, Helmut, Ishihara, Lianna, Ivanoiu, Adrian, Jagust, William J, Johannsen, Peter, Kandimalla, Ramesh, Kapaki, Elisabeth, Klimkowicz-Mrowiec, Aleksandra, Klunk, William E, Köhler, Sebastian, Koglin, Norman, Kornhuber, Johannes, Kramberger, Milica G, Van Laere, Koen, Landau, Susan M, Lee, Dong Young, de Leon, Mony, Lisetti, Viviana, Lleó, Alberto, Madsen, Karine, Maier, Wolfgang, Marcusson, Jan, Mattsson, Niklas, de Mendonça, Alexandre, Meulenbroek, Olga, Meyer, Philipp T, Mintun, Mark A, Mok, Vincent, Molinuevo, José Luis, Møllergård, Hanne M, Morris, John C, Mroczko, Barbara, Van der Mussele, Stefan, Na, Duk L, Newberg, Andrew, Nordberg, Agneta, Nordlund, Arto, Novak, Gerald P, Paraskevas, George P, Parnetti, Lucilla, Perera, Gayan, Peters, Oliver, Popp, Julius, Prabhakar, Sudesh, Rabinovici, Gil D, Ramakers, Inez H G B, Rami, Lorena, Resende de Oliveira, Catarina, Rinne, Juha O, Rodrigue, Karen M, Rodríguez-Rodríguez, Eloy, Roe, Catherine M, Rot, Uros, Rowe, Christopher C, Rüther, Eckart, Sabri, Osama, Sanchez-Juan, Páscual, Santana, Isabel, Sarazin, Marie, Schröder, Johannes, Schütte, Christin, Seo, Sang W, Soetewey, Femke, Soininen, Hilkka, Spiru, Luiza, Struyfs, Hanne, Teunissen, Charlotte E, Tsolaki, Magda, Vandenberghe, Rik, Verbeek, Marcel M, Villemagne, Victor L, Vos, Stephanie J B, van Waalwijk van Doorn, Linda J C, Waldemar, Gunhild, Wallin, Anders, Wallin, Åsa, Wiltfang, Jens, Wolk, David A, Zboch, Marzena, Zetterberg, Henrik, Jansen, Willemijn J, Ossenkoppele, Rik, Knol, Dirk L, Tijms, Betty M, Scheltens, Philip, Verhey, Frans R J, Visser, Pieter Jelle, Aalten, Pauline, Aarsland, Dag, Alcolea, Daniel, Alexander, Myriam, Almdahl, Ina S, Arnold, Steven E, Baldeiras, Inês, Barthel, Henryk, van Berckel, Bart N M, Bibeau, Kristen, Blennow, Kaj, Brooks, David J, van Buchem, Mark A, Camus, Vincent, Cavedo, Enrica, Chen, Kewei, Chetelat, Gael, Cohen, Ann D, Drzezga, Alexander, Engelborghs, Sebastiaan, Fagan, Anne M, Fladby, Tormod, Fleisher, Adam S, van der Flier, Wiesje M, Ford, Lisa, Förster, Stefan, Fortea, Juan, Foskett, Nadia, Frederiksen, Kristian S, Freund-Levi, Yvonne, Frisoni, Giovanni B, Froelich, Lutz, Gabryelewicz, Tomasz, Gill, Kiran Dip, Gkatzima, Olymbia, Gómez-Tortosa, Estrella, Gordon, Mark Forrest, Grimmer, Timo, Hampel, Harald, Hausner, Lucrezia, Hellwig, Sabine, Herukka, Sanna-Kaisa, Hildebrandt, Helmut, Ishihara, Lianna, Ivanoiu, Adrian, Jagust, William J, Johannsen, Peter, Kandimalla, Ramesh, Kapaki, Elisabeth, Klimkowicz-Mrowiec, Aleksandra, Klunk, William E, Köhler, Sebastian, Koglin, Norman, Kornhuber, Johannes, Kramberger, Milica G, Van Laere, Koen, Landau, Susan M, Lee, Dong Young, de Leon, Mony, Lisetti, Viviana, Lleó, Alberto, Madsen, Karine, Maier, Wolfgang, Marcusson, Jan, Mattsson, Niklas, de Mendonça, Alexandre, Meulenbroek, Olga, Meyer, Philipp T, Mintun, Mark A, Mok, Vincent, Molinuevo, José Luis, Møllergård, Hanne M, Morris, John C, Mroczko, Barbara, Van der Mussele, Stefan, Na, Duk L, Newberg, Andrew, Nordberg, Agneta, Nordlund, Arto, Novak, Gerald P, Paraskevas, George P, Parnetti, Lucilla, Perera, Gayan, Peters, Oliver, Popp, Julius, Prabhakar, Sudesh, Rabinovici, Gil D, Ramakers, Inez H G B, Rami, Lorena, Resende de Oliveira, Catarina, Rinne, Juha O, Rodrigue, Karen M, Rodríguez-Rodríguez, Eloy, Roe, Catherine M, Rot, Uros, Rowe, Christopher C, Rüther, Eckart, Sabri, Osama, Sanchez-Juan, Páscual, Santana, Isabel, Sarazin, Marie, Schröder, Johannes, Schütte, Christin, Seo, Sang W, Soetewey, Femke, Soininen, Hilkka, Spiru, Luiza, Struyfs, Hanne, Teunissen, Charlotte E, Tsolaki, Magda, Vandenberghe, Rik, Verbeek, Marcel M, Villemagne, Victor L, Vos, Stephanie J B, van Waalwijk van Doorn, Linda J C, Waldemar, Gunhild, Wallin, Anders, Wallin, Åsa, Wiltfang, Jens, Wolk, David A, Zboch, Marzena, and Zetterberg, Henrik
Abstract: Cerebral amyloid-β aggregation is an early pathological event in Alzheimer disease (AD), starting decades before dementia onset. Estimates of the prevalence of amyloid pathology in persons without dementia are needed to understand the development of AD and to design prevention studies.
Published: 2015

49. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

Author: Ruiz, Agustín, Dols-Icardo, Oriol, Bullido, María Jesús, Pastor, Pau, Rodríguez-Rodríguez, Eloy, López de Munain, Adolfo, de Pancorbo, Marian M., Pérez-Tur, Jordi, Álvarez, Victoria, Antonell, Anna, López-Arrieta, Jesús, Hernández, Isabel, Tárraga, Lluís, Boada, Mercè, Lleó, Alberto, Blesa, Rafael, Frank, Ana, Sastre, Isabel, Razquin, Cristina, Ortega-Cubero, Sara, Lorenzo, Elena, Sánchez-Juan, Pascual, Combarros, Onofre, Moreno, Fermín, Gorostidi, Ana, Baquero, Miquel, Coto, Eliecer, Sánchez-Valle, Raquel, Clarimón, Jordi, Ruiz, Agustín, Dols-Icardo, Oriol, Bullido, María Jesús, Pastor, Pau, Rodríguez-Rodríguez, Eloy, López de Munain, Adolfo, de Pancorbo, Marian M., Pérez-Tur, Jordi, Álvarez, Victoria, Antonell, Anna, López-Arrieta, Jesús, Hernández, Isabel, Tárraga, Lluís, Boada, Mercè, Lleó, Alberto, Blesa, Rafael, Frank, Ana, Sastre, Isabel, Razquin, Cristina, Ortega-Cubero, Sara, Lorenzo, Elena, Sánchez-Juan, Pascual, Combarros, Onofre, Moreno, Fermín, Gorostidi, Ana, Baquero, Miquel, Coto, Eliecer, Sánchez-Valle, Raquel, and Clarimón, Jordi
Abstract: A non-synonymous genetic rare variant, rs75932628-T (p.R47H), in the TREM2 gene has recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3,172 AD and 682 FTD patients and 2,169 healthy controls from Spain. We found that 0.6% of AD cases carried this variant compared to 0.1% of controls (odds ratio [OR]=4.12, 95% confidence interval [CI]: 1.21-14.00, P=0.014). A meta-analysis comprising 32,598 subjects from four previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR=4.11, 95% CI: 2.99-5.68, P=5.27x10-18). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk and suggest that this rare genetic variant is not related to FTD.
Published: 2013

50. 1as Jornadas de mantenimiento de edificios: un compromiso social y una oportunidad de negocio

Author: Escola Politècnica Superior d'Edificació de Barcelona, Pons Pujol, Albert, Vila i Cases, Mónica, Sistach i Manén, Marc, Querol, Cristofol, Quintana Poblet, Antoni, Urbón Rodríguez, Eloy, Pérez Cáceres, Antonio, Escola Politècnica Superior d'Edificació de Barcelona, Pons Pujol, Albert, Vila i Cases, Mónica, Sistach i Manén, Marc, Querol, Cristofol, Quintana Poblet, Antoni, Urbón Rodríguez, Eloy, and Pérez Cáceres, Antonio
Abstract: Ponències corresponents a la 2a. sessió de les 1as. Jornadas de mantenimiento de edificios., Ponències: "La contractación del mantenimiento y servicios generales" a càrrec d'Albert Pons Pujol [gerente de TBA Facilities]; "Experiencia en la contratación de obras con explotación en edificación" a càrrec de Mónica Vila [directora de proyectos y coordinación de edificación. Gisa]; "Aplicación de un contrato de concesión: un ejemplo de la Ciutat de la Justícia" a càrrec de Sistarch i Manén [director de explotación de URBISCA].
Published: 2010

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