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27 results on '"Adarmes-Gomez A."'

2. Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study

Author

Ortega Suero, G., Abenza Abildúa, M.J., Serrano Munuera, C., Rouco Axpe, I., Arpa Gutiérrez, F.J., Adarmes Gómez, A.D., Rodríguez de Rivera, F.J., Quintans Castro, B., Posada Rodríguez, I., Vadillo Bermejo, A., Domingo Santos, Á., Blanco Vicente, E., Infante Ceberio, I., Pardo Fernández, J., Costa Arpín, E., Painous Martí, C., Muñoz García, J.E., Mir Rivera, P., Montón Álvarez, F., Bataller Alberola, L., Gascón Bayarri, J., Casasnovas Pons, C., Vélez Santamaría, V., López de Munain, A., Fernández-Eulate, G., Gazulla Abío, J., Sanz Gallego, I., Rojas Bartolomé, L., Ayo Martín, Ó., Segura Martín, T., González Mingot, C., Baraldés Rovira, M., Sivera Mascaró, R., Cubo Delgado, E., Echavarría Íñiguez, A., Vázquez Sánchez, F., Bártulos Iglesias, M., Casadevall Codina, M.T., Martínez Fernández, E.M., Labandeira Guerra, C., Alemany Perna, B., Carvajal Hernández, A., Fernández Moreno, C., Palacín Larroy, M., Caballol Pons, N., Ávila Rivera, A., Navacerrada Barrero, F.J., Lobato Rodríguez, R., and Sobrido Gómez, M.J.

Published
2023
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3. Smoking is associated with age at disease onset in Parkinson's disease

Author

Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, de Fabregues, Oriol, Cartagena, Pilar Sanz, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández-Santiago, Rubén, Fernández, Manel, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain, Adolfo, Macias-Garcia, Daniel, Martínez-Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Álvarez-Santullano, Marina Mata, Mínguez-Castellanos, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán, Maria Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Tabernero, Cesar, Tartari, Juan Pablo, Tolosa, Eduard, Valldeoriola, Francesc, Vela, Lydia, Vives, Francisco, Pascual-Sedano, Berta, Hernández-Vara, Jorge, Rolán, Dolores Vilas, Bandrés-Ciga, Sara, Rosas, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Herrera, Israel Duarte, Pérez-Oliveira, Sergio, Álvarez, Victoria, and Menéndez-González, Manuel

Published
2022
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4. Increased homocysteine levels correlate with cortical structural damage in Parkinson's disease

Author

Sampedro, Frederic, Martínez-Horta, Saul, Horta-Barba, Andrea, Grothe, Michel J., Labrador-Espinosa, Miguel A., Jesús, Silvia, Adarmes-Gómez, Astrid, Carrillo, Fátima, Puig-Davi, Arnau, Lora, Florinda Roldán, Barberá, Miquel Aguilar, Pastor, Pau, Arroyo, Sonia Escalante, Vila, Berta Solano, Foraster, Anna Cots, Martínez, Javier Ruiz, Padilla, Francisco Carrillo, Morlans, Mercedes Pueyo, Aramburu, Isabel González, Ceberio, Jon Infante, Vara, Jorge Hernández, de Fábregues-Boixar, Oriol, de Deus Fonticoba, Teresa, Ávila, Asunción, Martínez-Castrillo, Juan Carlos, Bejr-Kasem, Helena, Campolongo, Antonia, Pascual-Sedano, Berta, Martínez-Martín, Pablo, Santos-García, Diego, Mir, Pablo, and Kulisevsky, Jaime

Published
2022
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5. In vivo cholinergic basal forebrain degeneration and cognition in Parkinson's disease: Imaging results from the COPPADIS study

Author

Grothe, Michel J., Labrador-Espinosa, Miguel A., Jesús, Silvia, Macías-García, Daniel, Adarmes-Gómez, Astrid, Carrillo, Fátima, Camacho, Elena Iglesias, Franco-Rosado, Pablo, Lora, Florinda Roldán, Martín-Rodríguez, Juan Francisco, Barberá, Miquel Aguilar, Pastor, Pau, Arroyo, Sonia Escalante, Vila, Berta Solano, Foraster, Anna Cots, Martínez, Javier Ruiz, Padilla, Francisco Carrillo, Morlans, Mercedes Pueyo, Aramburu, Isabel González, Ceberio, Jon Infante, Vara, Jorge Hernández, de Fábregues-Boixar, Oriol, de Deus Fonticoba, Teresa, Pascual-Sedano, Berta, Kulisevsky, Jaime, Martínez-Martín, Pablo, Santos-García, Diego, and Mir, Pablo

Published
2021
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6. A geroscience approach for Parkinson’s disease: Conceptual framework and design of PROPAG-AGEING project

Author

Adarmes-Gómez, Astrid, Azevedo, Tiago, Bacalini, Maria Giulia, Baldelli, Luca, Bartoletti-Stella, Anna, Bhatia, Kailash P., Bonilla-Toribio, Marta, Boninsegna, Claudia, Broli, Marcella, Buiza-Rueda, Dolores, Calandra-Buonaura, Giovanna, Capellari, Sabina, Carrión-Claro, Mario, Cilea, Rosalia, Clayton, Robert, Cortelli, Pietro, Molin, Alessandra Dal, De Luca, Silvia, De Massis, Patrizia, Dimitri, Giovanna Maria, Doykov, Ivan, Escuela-Martin, Rocio, Fabbri, Giovanni, Franceschi, Claudio, Gabellini, Anna, Garagnani, Paolo, Giuliani, Cristina, Gómez-Garre, Pilar, Guaraldi, Pietro, Hägg, Sara, Hällqvist, Jenny, Halsband, Claire, Heywood, Wendy, Houlden, Henry, Huertas, Ismae, Jesús, Silvia, Jylhävä, Juulia, Labrador-Espinosa, Miguel A., Licari, Cristina, Liò, Pietro, Luchinat, Claudio, Macias, Daniel, Macrì, Stefania, Magrinelli, Francesca, Rodríguez, Juan Francisco Martín, Delledonne, Massimo, Maturo, Maria Giovanna, Mengozzi, Giacomo, Meoni, Gaia, Mignani, Francesco, Milazzo, Maddalena, Mills, Kevin, Mir, Pablo, Mollenhauer, Brit, Nardini, Christine, Nassetti, Stefania Alessandra, Pedersen, Nancy L., Periñán-Tocino, Maria Teresa, Pirazzini, Chiara, Provini, Federica, Ravaioli, Francesco, Sala, Claudia, Sambati, Luisa, Scaglione, Cesa Lorella Maria, Schade, Sebastian, Schreglmann, Sebastian, Spasov, Simeon, Strom, Stephen, Tejera-Parrado, Cristina, Tenori, Leonardo, Trenkwalder, Claudia, Turano, Paola, Valzania, Franco, Ortega, Rosario Vigo, Williams, Dylan, Xumerle, Luciano, Zago, Elisa, Dal Molin, Alessandra, and Kwiatkowska, Katarzyna Malgorzata

Published
2021
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7. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Author

Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blauwendraat, Cornelis, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Chelban, Viorica, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Faghri, Faraz, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Gan-Or, Ziv, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Iwaki, Hirotaka, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Krohn, Lynne, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Martínez Torres, Irene, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Nalls, Mike A, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizig, Mie, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Rouleau, Guy A, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Singleton, Andrew B, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Van Keuren-Jensen, Kendall, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., von Coelln, Rainer, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Kleinman, Aaron, Lin, Keng-Han, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Tung, Joyce, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao, Vallerga, Costanza L, Heilbron, Karl, Chang, Diana, Tan, Manuela, Young, Emily, Pihlstrøm, Lasse, Leonard, Hampton, Botia, Juan A, Jankovic, Joseph, Shulman, Lisa M, Sutherland, Margaret, Tienari, Pentti, Andreassen, Ole A, Bangale, Tushar, Hinds, David A, Hardy, John A, Visscher, Peter M, and Graham, Robert R

Published
2019
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9. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Author

Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García González, P., Gil, S., Guitart, M., González Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Monté-Rubio, G., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejà, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rodríguez-Gómez, O., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sáez, M.E., Sanabria, A., Santos-Santos, M.A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Álvarez, I., Álvarez, V., Amer-Ferrer, Goo, Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Fortea, J., Franco, E., Frank-García, A., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Espinosa, Labrador, Lage, C., Legaz, A., Lleó, A., López de Munáin, A., López-García, S., Macias, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, A.B., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Piñol Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., A, Ruiz, Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vivancos, L., Moreno-Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández-Olasagarre, Begoña, Madrid, Laura, González-Perez, Antonio, Maroñas, Olalla, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez-Gómez, Octavio, Gil, Silvia, Santos-Santos, Miguel Ángel, Espinosa, Ana, Ortega, Gemma, Sanabria, Ángela, Pérez-Cordón, Alba, Cañabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Susana, Aguilera, Nuria, Pineda, Juan Antonio, Macías, Juan, Alarcón-Martín, Emilio, Sotolongo-Grau, Oscar, Marquié, Marta, Monté-Rubio, Gemma, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose Maria, Royo, José Luis, Franco, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín

Published
2019
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10. MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.

Author

Öz, Gülin, Cocozza, Sirio, Henry, Pierre-Gilles, Lenglet, Christophe, Deistung, Andreas, Faber, Jennifer, Schwarz, Adam J., Timmann, Dagmar, Van Dijk, Koene R. A., Harding, Ian H., Adarmes-Gomez, Astrid, Thieme, Andreas, Reetz, Kathrin, Rylski, Marcin, Rezende, Thiago JR, Gennarino, Vincenzo A., Ratai, Eva-Maria, Mariotti, Caterina, Nigri, Anna, and Nanetti, Lorenzo

Subjects
MAGNETIC resonance imaging, DIFFUSION magnetic resonance imaging, NUCLEAR magnetic resonance spectroscopy, FUNCTIONAL magnetic resonance imaging, ATAXIA
Abstract

With many viable strategies in the therapeutic pipeline, upcoming clinical trials in hereditary and sporadic degenerative ataxias will benefit from non-invasive MRI biomarkers for patient stratification and the evaluation of therapies. The MRI Biomarkers Working Group of the Ataxia Global Initiative therefore devised guidelines to facilitate harmonized MRI data acquisition in clinical research and trials in ataxias. Recommendations are provided for a basic structural MRI protocol that can be used for clinical care and for an advanced multi-modal MRI protocol relevant for research and trial settings. The advanced protocol consists of modalities with demonstrated utility for tracking brain changes in degenerative ataxias and includes structural MRI, magnetic resonance spectroscopy, diffusion MRI, quantitative susceptibility mapping, and resting-state functional MRI. Acceptable ranges of acquisition parameters are provided to accommodate diverse scanner hardware in research and clinical contexts while maintaining a minimum standard of data quality. Important technical considerations in setting up an advanced multi-modal protocol are outlined, including the order of pulse sequences, and example software packages commonly used for data analysis are provided. Outcome measures most relevant for ataxias are highlighted with use cases from recent ataxia literature. Finally, to facilitate access to the recommendations by the ataxia clinical and research community, examples of datasets collected with the recommended parameters are provided and platform-specific protocols are shared via the Open Science Framework. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Role of ATP10B in Parkinson disease in a cohort from southern Spain

Author

Díaz-Belloso, Rafael, Muñoz-Delgado, Laura, Martín-Bornez, Miguel, Ojeda, Elena, Periñán, María Teresa, García-Díaz, Sergio, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Pineda-Sánchez, Rocío, Jesús, Silvia, Macías-García, Daniel, Adarmes-Gómez, Astrid, Carrillo, Fátima, Mir, Pablo, and Gómez-Garre, Pilar

Published
2024
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12. Perspectives of Implementation of Closed-Loop Deep Brain Stimulation: From Neurological to Psychiatric Disorders.

Author

Groppa, Sergiu, Gonzalez-Escamilla, Gabriel, Tinkhauser, Gerd, Baqapuri, Halim Ibrahim, Sajonz, Bastian, Wiest, Christoph, Pereira, Joana, Herz, Damian M., Dold, Matthias R., Bange, Manuel, Ciolac, Dumitru, Almeida, Viviane, Neuber, John, Mirzac, Daniela, Martín-Rodríguez, Juan Francisco, Dresel, Christian, Muthuraman, Muthuraman, Adarmes Gomez, Astrid D., Navas, Marta, and Temiz, Gizem

Abstract

Background: Deep brain stimulation (DBS) is a highly efficient, evidence-based therapy to alleviate symptoms and improve quality of life in movement disorders such as Parkinson's disease, essential tremor, and dystonia, which is also being applied in several psychiatric disorders, such as obsessive-compulsive disorder and depression, when they are otherwise resistant to therapy. Summary: At present, DBS is clinically applied in the so-called open-loop approach, with fixed stimulation parameters, irrespective of the patients' clinical state(s). This approach ignores the brain states or feedback from the central nervous system or peripheral recordings, thus potentially limiting its efficacy and inducing side effects by stimulation of the targeted networks below or above the therapeutic level. Key Messages: The currently emerging closed-loop (CL) approaches are designed to adapt stimulation parameters to the electrophysiological surrogates of disease symptoms and states. CL-DBS paves the way for adaptive personalized DBS protocols. This review elaborates on the perspectives of the CL technology and discusses its opportunities as well as its potential pitfalls for both clinical and research use in neuropsychiatric disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Author

Andreas Traschütz, Astrid D. Adarmes‐Gomez, Mathieu Anheim, Jonathan Baets, Björn H. Falkenburger, Janina Gburek‐Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe‐Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, Mathilde Renaud, Filippo M. Santorelli, Ludger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B. Haack, Bart P. van de Warrenburg, Ginevra Zanni, and Matthis Synofzik

Subjects
Neurology, Medizin, 03.01. Általános orvostudomány, Human medicine, Neurology (clinical), ddc:610
Abstract

in press

Published
2023
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14. Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson's disease patients

Author

Zago E., Dal Molin A., Dimitri G. M., Xumerle L., Pirazzini C., Bacalini M. G., Maturo M. G., Azevedo T., Spasov S., Gomez-Garre P., Perinan M. T., Jesus S., Baldelli L., Sambati L., Calandra Buonaura G., Garagnani P., Provini F., Cortelli P., Mir P., Trenkwalder C., Mollenhauer B., Franceschi C., Lio P., Nardini C., Adarmes-Gomez A., Bartoletti-Stella A., Bhatia K. P., Marta B. -T., Boninsegna C., Broli M., Dolores B. -R., Calandra-Buonaura G., Capellari S., Carrion-Claro M., Cilea R., Clayton R., Molin A. D., De Luca S., De Massis P., Doykov I., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Hagg S., Hallqvist J., Halsband C., Heywood W., Houlden H., Huertas I., Jylhava J., Labrador-Espinosa M. A., Licari C., Luchinat C., Macias D., Macri S., Magrinelli F., Rodriguez J. F. M., Massimo D., Mengozzi G., Meoni G., Mignani F., Milazzo M., Mills K., Nassetti S. A., Pedersen N. L., Perinan-Tocino M. T., Ravaioli F., Sala C., Scaglione C. L. M., Schade S., Schreglmann S., Strom S., Tejera-Parrado C., Tenori L., Turano P., Valzania F., Ortega R. V., Williams D., Apollo - University of Cambridge Repository, Zago E., Dal Molin A., Dimitri G.M., Xumerle L., Pirazzini C., Bacalini M.G., Maturo M.G., Azevedo T., Spasov S., Gomez-Garre P., Perinan M.T., Jesus S., Baldelli L., Sambati L., Calandra Buonaura G., Garagnani P., Provini F., Cortelli P., Mir P., Trenkwalder C., Mollenhauer B., Franceschi C., Lio P., Nardini C., Adarmes-Gomez A., Bartoletti-Stella A., Bhatia K.P., Marta B.-T., Boninsegna C., Broli M., Dolores B.-R., Calandra-Buonaura G., Capellari S., Carrion-Claro M., Cilea R., Clayton R., Molin A.D., De Luca S., De Massis P., Doykov I., Escuela-Martin R., Fabbri G., Gabellini A., Giuliani C., Guaraldi P., Hagg S., Hallqvist J., Halsband C., Heywood W., Houlden H., Huertas I., Jylhava J., Labrador-Espinosa M.A., Licari C., Luchinat C., Macias D., Macri S., Magrinelli F., Rodriguez J.F.M., Massimo D., Mengozzi G., Meoni G., Mignani F., Milazzo M., Mills K., Nassetti S.A., Pedersen N.L., Perinan-Tocino M.T., Ravaioli F., Sala C., Scaglione C.L.M., Schade S., Schreglmann S., Strom S., Tejera-Parrado C., Tenori L., Turano P., Valzania F., Ortega R.V., and Williams D.

Subjects
Male, Aging, Molecular biology, Science, Immunology, Article, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Medical research, Humans, Parkinson, 030304 developmental biology, Aged, 0303 health sciences, Multidisciplinary, Biological techniques, Parkinson Disease, Middle Aged, 3. Good health, nervous system diseases, Computational biology and bioinformatics, MicroRNAs, Neurology, ageing, Medicine, Female, 030217 neurology & neurosurgery, Biomarkers
Abstract

Advanced age represents one of the major risk factors for Parkinson's Disease. Recent biomedical studies posit a role for microRNAs, also known to be remodelled during ageing. However, the relationship between microRNA remodelling and ageing in Parkinson's Disease, has not been fully elucidated. Therefore, the aim of the present study is to unravel the relevance of microRNAs as biomarkers of Parkinson's Disease within the ageing framework. We employed Next Generation Sequencing to profile serum microRNAs from samples informative for Parkinson's Disease (recently diagnosed, drug-naïve) and healthy ageing (centenarians) plus healthy controls, age-matched with Parkinson's Disease patients. Potential microRNA candidates markers, emerging from the combination of differential expression and network analyses, were further validated in an independent cohort including both drug-naïve and advanced Parkinson's Disease patients, and healthy siblings of Parkinson's Disease patients at higher genetic risk for developing the disease. While we did not find evidences of microRNAs co-regulated in Parkinson's Disease and ageing, we report that hsa-miR-144-3p is consistently down-regulated in early Parkinson's Disease patients. Moreover, interestingly, functional analysis revealed that hsa-miR-144-3p is involved in the regulation of coagulation, a process known to be altered in Parkinson's Disease. Our results consistently show the down-regulation of hsa-mir144-3p in early Parkinson's Disease, robustly confirmed across a variety of analytical and experimental analyses. These promising results ask for further research to unveil the functional details of the involvement of hsa-mir144-3p in Parkinson's Disease., This work was supported by the Horizon 2020 Framework Programme (Grant number 634821, PROPAG-AGING).

Published
2022

18. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.

Author

Traschütz, Andreas, Adarmes‐Gomez, Astrid D., Anheim, Mathieu, Baets, Jonathan, Falkenburger, Björn H., Gburek‐Augustat, Janina, Doss, Sarah, Kamm, Christoph, Klivenyi, Peter, Grobe‐Einsler, Marcus, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Pane, Chiara, Renaud, Mathilde, Santorelli, Filippo M., Schöls, Ludger, Timmann, Dagmar, Vielhaber, Stefan, and Haack, Tobias B.

Published
2023
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19. Early downregulation of hsa-miR-144-3p in serum from drug-naïve Parkinson’s disease patients

Author

Zago, E., Dal Molin, A., Dimitri, G. M., Xumerle, L., Pirazzini, C., Bacalini, M. G., Maturo, M. G., Azevedo, T., Spasov, S., Gomez-Garre, P., Perinan, M. T., Jesus, S., Baldelli, L., Sambati, L., Calandra-Buonaura, G., Garagnani, P., Provini, F., Cortelli, P., Mir, P., Trenkwalder, C., Mollenhauer, B., Franceschi, C., Lio, P., Nardini, C., Adarmes-Gomez, A., Bartoletti-Stella, A., Bhatia, K. P., Marta, B. -T., Boninsegna, C., Broli, M., Dolores, B. -R., Capellari, S., Carrion-Claro, M., Cilea, R., Clayton, R., Molin, A. D., De Luca, S., De Massis, P., Doykov, I., Escuela-Martin, R., Fabbri, G., Gabellini, A., Giuliani, C., Guaraldi, P., Hagg, S., Hallqvist, J., Halsband, C., Heywood, W., Houlden, H., Huertas, I., Jylhava, J., Labrador-Espinosa, M. A., Licari, C., Luchinat, C., Macias, D., Macri, S., Magrinelli, F., Rodriguez, J. F. M., Massimo, D., Mengozzi, G., Meoni, G., Mignani, F., Milazzo, M., Mills, K., Nassetti, S. A., Pedersen, N. L., Perinan-Tocino, M. T., Ravaioli, F., Sala, C., Scaglione, C. L. M., Schade, S., Schreglmann, S., Strom, S., Tejera-Parrado, C., Tenori, L., Turano, P., Valzania, F., Ortega, R. V., and Williams, D.

Subjects
hsa‑miR‑144‑3p, serum, Parkinson’s disease patients
Published
2022

20. Clinical and structural brain correlates of hypomimia in early‐stage Parkinson's disease.

Author

Sampedro, Frederic, Martínez‐Horta, Saul, Horta‐Barba, Andrea, Grothe, Michel J., Labrador‐Espinosa, Miguel A., Jesús, Silvia, Adarmes‐Gomez, Astrid, Carrillo, Fatima, Puig‐Davi, Arnau, Roldan‐Lora, Florinda, Aguilar‐Barbera, Miquel, Pastor, Pau, Arroyo, Sonia Escalante, Vila, Berta Solano, Cots‐Foraster, Anna, Ruiz‐Martínez, Javier, Carrillo‐Padilla, Francisco, Pueyo‐Morlans, Mercedes, Gonzalez‐Aramburu, Isabel, and Infante‐Ceberio, Jon

Subjects
APATHY, PARKINSON'S disease, FACIAL expression & emotions (Psychology), GRAY matter (Nerve tissue), DISEASE duration, CONFOUNDING variables
Abstract

Background and purpose: Reduced facial expression of emotions is a very frequent symptom of Parkinson's disease (PD) and has been considered part of the motor features of the disease. However, the neural correlates of hypomimia and the relationship between hypomimia and other non‐motor symptoms of PD are poorly understood. Methods: The clinical and structural brain correlates of hypomimia were studied. For this purpose, cross‐sectional data from the COPPADIS study database were used. Age, disease duration, levodopa equivalent daily dose, Unified Parkinson's Disease Rating Scale part III (UPDRS‐III), severity of apathy and depression and global cognitive status were collected. At the imaging level, analyses based on gray matter volume and cortical thickness were used. Results: After controlling for multiple confounding variables such as age or disease duration, the severity of hypomimia was shown to be indissociable from the UPDRS‐III speech and bradykinesia items and was significantly related to the severity of apathy (β = 0.595; p < 0.0001). At the level of neural correlates, hypomimia was related to motor regions brodmann area 8 (BA 8) and to multiple fronto‐temporo‐parietal regions involved in the decoding, recognition and production of facial expression of emotions. Conclusion: Reduced facial expressivity in PD is related to the severity of symptoms of apathy and is mediated by the dysfunction of brain systems involved in motor control and in the recognition, integration and expression of emotions. Therefore, hypomimia in PD may be conceptualized not exclusively as a motor symptom but as a consequence of a multidimensional deficit leading to a symptom where motor and non‐motor aspects converge. [ABSTRACT FROM AUTHOR]

Published
2022
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21. Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

de Rojas, I., Moreno-Grau, S., Tesi, N., Grenier-Boley, B., Andrade, V., Jansen, I. E., Pedersen, N. L., Stringa, N., Zettergren, A., Hernandez, I., Montrreal, L., Antunez, C., Antonell, A., Tankard, R. M., Bis, J. C., Sims, R., Bellenguez, C., Quintela, I., Gonzalez-Perez, A., Calero, M., Franco-Macias, E., Macias, J., Blesa, R., Cervera-Carles, L., Menendez-Gonzalez, M., Frank-Garcia, A., Royo, J. L., Moreno, F., Huerto Vilas, R., Baquero, M., Diez-Fairen, M., Lage, C., Garcia-Madrona, S., Garcia-Gonzalez, P., Alarcon-Martin, E., Valero, S., Sotolongo-Grau, O., Ullgren, A., Naj, A. C., Lemstra, A. W., Benaque, A., Perez-Cordon, A., Benussi, A., Rabano, A., Padovani, A., Squassina, A., de Mendonca, A., Arias Pastor, A., Kok, A. A. L., Meggy, A., Pastor, A. B., Espinosa, A., Corma-Gomez, A., Martin Montes, A., Sanabria, A., DeStefano, A. L., Schneider, A., Haapasalo, A., Kinhult Stahlbom, A., Tybjaerg-Hansen, A., Hartmann, A. M., Spottke, A., Corbaton-Anchuelo, A., Rongve, A., Borroni, B., Arosio, B., Nacmias, B., Nordestgaard, B. G., Kunkle, B. W., Charbonnier, C., Abdelnour, C., Masullo, C., Martinez Rodriguez, C., Munoz-Fernandez, C., Dufouil, C., Graff, C., Ferreira, C. B., Chillotti, C., Reynolds, C. A., Fenoglio, C., Van Broeckhoven, C., Clark, C., Pisanu, C., Satizabal, C. L., Holmes, C., Buiza-Rueda, D., Aarsland, D., Rujescu, D., Alcolea, D., Galimberti, D., Wallon, D., Seripa, D., Grunblatt, E., Dardiotis, E., Duzel, E., Scarpini, E., Conti, E., Rubino, E., Gelpi, E., Rodriguez-Rodriguez, E., Duron, E., Boerwinkle, E., Ferri, E., Tagliavini, F., Kucukali, F., Pasquier, F., Sanchez-Garcia, F., Mangialasche, F., Jessen, F., Nicolas, G., Selbaek, G., Ortega, G., Chene, G., Hadjigeorgiou, G., Rossi, G., Spalletta, G., Giaccone, G., Grande, G., Binetti, G., Papenberg, G., Hampel, H., Bailly, H., Zetterberg, H., Soininen, H., Karlsson, I. K., Alvarez, I., Appollonio, I., Giegling, I., Skoog, I., Saltvedt, I., Rainero, I., Rosas Allende, I., Hort, J., Diehl-Schmid, J., Van Dongen, J., Vidal, J. -S., Lehtisalo, J., Wiltfang, J., Thomassen, J. Q., Kornhuber, J., Haines, J. L., Vogelgsang, J., Pineda, J. A., Fortea, J., Popp, J., Deckert, J., Buerger, K., Morgan, K., Fliessbach, K., Sleegers, K., Molina-Porcel, L., Kilander, L., Weinhold, L., Farrer, L. A., Wang, L. -S., Kleineidam, L., Farotti, L., Parnetti, L., Tremolizzo, L., Hausner, L., Benussi, L., Froelich, L., Ikram, M. A., Deniz-Naranjo, M. C., Tsolaki, M., Rosende-Roca, M., Lowenmark, M., Hulsman, M., Spallazzi, M., Pericak-Vance, M. A., Esiri, M., Bernal Sanchez-Arjona, M., Dalmasso, M. C., Martinez-Larrad, M. T., Arcaro, M., Nothen, M. M., Fernandez-Fuertes, M., Dichgans, M., Ingelsson, M., Herrmann, M. J., Scherer, M., Vyhnalek, M., Kosmidis, M. H., Yannakoulia, M., Schmid, M., Ewers, M., Heneka, M. T., Wagner, M., Scamosci, M., Kivipelto, M., Hiltunen, M., Zulaica, M., Alegret, M., Fornage, M., Roberto, N., van Schoor, N. M., Seidu, N. M., Banaj, N., Armstrong, N. J., Scarmeas, N., Scherbaum, N., Goldhardt, O., Hanon, O., Peters, O., Skrobot, O. A., Quenez, O., Lerch, O., Bossu, P., Caffarra, P., Dionigi Rossi, P., Sakka, P., Hoffmann, P., Holmans, P. A., Fischer, P., Riederer, P., Yang, Q., Marshall, R., Kalaria, R. N., Mayeux, R., Vandenberghe, R., Cecchetti, R., Ghidoni, R., Frikke-Schmidt, R., Sorbi, S., Hagg, S., Engelborghs, S., Helisalmi, S., Botne Sando, S., Kern, S., Archetti, S., Boschi, S., Fostinelli, S., Gil, S., Mendoza, S., Mead, S., Ciccone, S., Djurovic, S., Heilmann-Heimbach, S., Riedel-Heller, S., Kuulasmaa, T., del Ser, T., Lebouvier, T., Polak, T., Ngandu, T., Grimmer, T., Bessi, V., Escott-Price, V., Giedraitis, V., Deramecourt, V., Maier, W., Jian, X., Pijnenburg, Y. A. L., Smith, A. D., Saenz, A., Bizzarro, A., Lauria, A., Vacca, A., Solomon, A., Anastasiou, A., Richardson, A., Boland, A., Koivisto, A., Daniele, A., Greco, A., Marianthi, A., McGuinness, B., Fin, B., Ferrari, C., Custodero, C., Ferrarese, C., Ingino, C., Mangone, C., Reyes Toso, C., Martinez, C., Cuesta, C., Muchnik, C., Joachim, C., Ortiz, C., Besse, C., Johansson, C., Zoia, C. P., Laske, C., Anastasiou, C., Palacio, D. L., Politis, D. G., Janowitz, D., Craig, D., Mann, D. M., Neary, D., Jurgen, D., Daian, D., Belezhanska, D., Kohler, E., Castano, E. M., Koutsouraki, E., Chipi, E., De Roeck, E., Costantini, E., Vardy, E. R. L. C., Piras, F., Roveta, F., Prestia, F. A., Assogna, F., Salani, F., Sala, G., Lacidogna, G., Novack, G., Wilcock, G., Thonberg, H., Kolsch, H., Weber, H., Boecker, H., Etchepareborda, I., Piaceri, I., Tuomilehto, J., Lindstrom, J., Laczo, J., Johnston, J., Deleuze, J. -F., Harris, J., Schott, J. M., Priller, J., Bacha, J. I., Snowden, J., Lisso, J., Mihova, K. Y., Traykov, L., Morelli, L., Brusco, L. I., Rainer, M., Takalo, M., Bjerke, M., Del Zompo, M., Serpente, M., Sanchez Abalos, M., Rios, M., Peltonen, M., Herrman, M. J., Kohler, M., Rojo, M., Jones, M., Orsini, M., Medel, N., Olivar, N., Fox, N. C., Salvadori, N., Hooper, N. M., Galeano, P., Solis, P., Bastiani, P., Mecocci, P., Passmore, P., Heun, R., Antikainen, R., Olaso, R., Perneczky, R., Germani, S., Lopez-Garcia, S., Love, S., Mehrabian, S., Bagnoli, S., Kochen, S., Andreoni, S., Teipel, S., Todd, S., Pickering-Brown, S., Natunen, T., Tegos, T., Laatikainen, T., Strandberg, T., Polvikoski, T. M., Matoska, V., Ciullo, V., Cores, V., Solfrizzi, V., Lisetti, V., Sevillano, Z., Aguilera, N., Alarcon, E., Boada, M., Buendia, M., Canabate, P., Carracedo, A., Diego, S., Gailhajenet, A., Guitart, M., Ibarria, M., Lafuente, A., Maronas, O., Martin, E., Martinez, M. T., Marquie, M., Mauleon, A., Moreno, M., Orellana, A., Pancho, A., Peleja, E., Preckler, S., Real, L. M., Ruiz, A., Saez, M. E., Serrano-Rios, M., Tarraga, L., Vargas, L., Adarmes-Gomez, A. D., Alonso, M. D., Alvarez, V., Amer-Ferrer, G., Antequera, M., Bernal, M., Bullido, M. J., Burguera, J. A., Carrillo, F., Carrion-Claro, M., Casajeros, M. J., Clarimon, J., Cruz-Gamero, J. M., de Pancorbo, M. M., Escuela, R., Garrote-Espina, L., Garcia-Alberca, J. M., Garcia Madrona, S., Garcia-Ribas, G., Gomez-Garre, P., Hevilla, S., Jesus, S., Labrador Espinosa, M. A., Legaz, A., Lleo, A., Lopez de Munain, A., Macias-Garcia, D., Manzanares, S., Marin, M., Marin-Munoz, J., Marin, T., Martinez, B., Martinez, V., Martinez-Lage Alvarez, P., Medina, M., Mendioroz Iriarte, M., Mir, P., Molinuevo, J. L., Pastor, P., Perez Tur, J., Perinan-Tocino, T., Pineda-Sanchez, R., Pinol-Ripoll, G., Real de Asua, D., Rodrigo, S., Sanchez del Valle Diaz, R., Sanchez-Juan, P., Sastre, I., Vicente, M. P., Vigo-Ortega, R., Vivancos, L., Macleod, C., McCracken, C., Brayne, C., Bresner, C., Grozeva, D., Bellou, E., Sommerville, E. W., Matthews, F., Leonenko, G., Menzies, G., Windle, G., Harwood, J., Phillips, J., Bennett, K., Luckuck, L., Clare, L., Woods, R., Saad, S., Burholt, V., Kehoe, P. G., Perez-Tur, J., Scheltens, P., Holstege, H., Amouyel, P., Schellenberg, G. D., Williams, J., Seshadri, S., van Duijn, C. M., Mather, K. A., Sanchez-Valle, R., Blennow, K., Huisman, M., Andreassen, O. A., Posthuma, D., van der Flier, W. M., Ramirez, A., Lambert, J. -C., and van der Lee, S. J.

Subjects
Age of Onset, Aged, Aged, 80 and over, Alzheimer Disease, Amyloid beta-Protein Precursor, Apolipoproteins E, Case-Control Studies, Cohort Studies, Datasets as Topic, Female, Follow-Up Studies, Genetic Predisposition to Disease, Genome-Wide Association Study, Heterozygote, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Multifactorial Inheritance
Published
2021

23. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Author

Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P, Bubb, Vivien J, Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A, Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev, Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O, IPDGC, and Universidad de Cantabria

Subjects
0301 basic medicine, Mitochondrial DNA, medicine.medical_specialty, Aging, Parkinson's disease, Mitochondrial disease, Mitochondrion, Biology, Neurodegenerative, Bioinformatics, lcsh:RC346-429, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Mendelian randomization, Mitophagy, medicine, Genetics, 2.1 Biological and endogenous factors, Aetiology, lcsh:Neurology. Diseases of the nervous system, Parkinson's Disease, Medical genetics, Neurosciences, medicine.disease, Brain Disorders, International Parkinson’s Disease Genomics Consortium, 030104 developmental biology, Proteostasis, Neurology, Risk factors, Neurological, Neurology (clinical), Medical genetic, 030217 neurology & neurosurgery
Abstract

Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet to be fully established. Here, we comprehensively assessed the role of mitochondrial function-associated genes in sporadic PD by leveraging improvements in the scale and analysis of PD GWAS data with recent advances in our understanding of the genetics of mitochondrial disease. We calculated a mitochondrial-specific polygenic risk score (PRS) and showed that cumulative small effect variants within both our primary and secondary gene lists are significantly associated with increased PD risk. We further reported that the PRS of the secondary mitochondrial gene list was significantly associated with later age at onset. Finally, to identify possible functional genomic associations we implemented Mendelian randomization, which showed that 14 of these mitochondrial functionassociated genes showed functional consequence associated with PD risk. Further analysis suggested that the 14 identified genes are not only involved in mitophagy, but implicate new mitochondrial processes. Our data suggests that therapeutics targeting mitochondrial bioenergetics and proteostasis pathways distinct from mitophagy could be beneficial to treating the early stage of PD., This work was supported in part by the Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services; project ZO1 AG000949

Published
2019

24. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

Author

Reynolds, R.H., Botia, J., Nalls, M.A., Hardy, J., Taliun, S.A.G., Ryten, M., Noyce, A.J., Nicolas, A., Cookson, M.R., Bandres-Ciga, S., Gibbs, J.R., Hernandez, D.G., Singleton, A.B., Reed, X., Leonard, H., Blauwendraat, C., Faghri, F., Bras, J., Guerreiro, R., Tucci, A., Kia, D.A., Houlden, H., Plun-Favreau, H., Mok, K.Y., Wood, N.W., Lovering, R., R'Bibo, L., Rizig, M., Chelban, V., Trabzuni, D., Tan, M., Morris, H.R., Middlehurst, B., Quinn, J., Billingsley, K., Holmans, P., Kinghorn, K.J., Lewis, P., Escott-Price, V., Williams, N., Foltynie, T., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Giri, A., Schulte, C., Brockmann, K., Simon-Sanchez, J., Heutink, P., Gasser, T., Rizzu, P., Sharma, M., Shulman, J.M., Robak, L., Lubbe, S., Mencacci, N.E., Finkbeiner, S., Lungu, C., Scholz, S.W., Gan-Or, Z., Rouleau, G.A., Krohan, L., Hilten, J.J. van, Marinus, J., Adarmes-Gomez, A.D., Bernal-Bernal, I., Bonilla-Toribio, M., Buiza-Rueda, D., Carrillo, F., Carrion-Claro, M., Mir, P., Gomez-Garre, P., Jesus, S., Labrador-Espinosa, M.A., Macias, D., Vargas-Gonzalez, L., Mendez-del-Barrio, C., Perinan-Tocino, T., Tejera-Parrado, C., Diez-Fairen, M., Aguilar, M., Alvarez, I., Boungiorno, M.T., Carcel, M., Pastor, P., Tartari, J.P., Alvarez, V., Gonzalez, M.M., Blazquez, M., Garcia, C., Suarez-Sanmartin, E., Barrero, F.J., Rezola, E.M., Yarza, J.A.B., Pagola, A.G., Arregui, A.L.D., Ruiz-Martinez, J., Cerdan, D., Duarte, J., Clarimon, J., Dols-Icardo, O., Infante, J., Marin, J., Kulisevsky, J., Pagonabarraga, J., Gonzalez-Aramburu, I., Rodriguez, A.S., Sierra, M., Duran, R., Ruz, C., Vives, F., Escamilla-Sevilla, F., Minguez, A., Camara, A., Compta, Y., Ezquerra, M., Marti, M.J., Fernandez, M., Munoz, E., Fernandez-Santiago, R., Tolosa, E., Valldeoriola, F., Garcia-Ruiz, P., Heredia, M.J.G., Errazquin, F.P., Hoenicka, J., Jimenez-Escrig, A., Martinez-Castrillo, J.C., Lopez-Sendon, J.L., Torres, I.M., Tabernero, C., Vela, L., Zimprich, A., Pihlstrom, L., Koks, S., Taba, P., Majamaa, K., Siitonen, A., Okubadejo, N.U., Ojo, O.O., Pitcher, T., Anderson, T., Bentley, S., Fowdar, J., Mellick, G., Dalrymple-Alford, J., Henders, A.K., Kassam, I., Montgomery, G., Sidorenko, J., Zhang, F.T., Xue, A.L., Vallerga, C.L., Wallace, L., Wray, N.R., Yang, J., Visscher, P.M., Gratten, J., Silburn, P.A., Halliday, G., Hickie, I., Kwok, J., Lewis, S., Kennedy, M., Pearson, J., Int Parkinsons Dis Genomics, and Syst Genomics Parkinsons Dis

Published
2019

26. LRP10 in α-synucleinopathies

Author

Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun-Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Bras, Jose, Quinn, John, Mok, Kin Y, Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Faghri, Faraz, Gibbs, Raphael J., Hernandez, Dena G, Van Keuren-Jensen, Kendall, Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Ziv, Rouleau, Guy A., van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco J., Bergareche Yarza, Jesús A., Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Diez-Farien, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose L., López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez- Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Sabir, Marya S, Ahmed, Sarah, and Trinh, Joanne

Published
2018
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