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237 results on '"Nicolas, Aude"'

51. Du terrain à l'atelier

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), École du Louvre (EDL), Soutien de l'Ecole du Louvre et du Criham-Ea 4270 de l'Université de Poitiers, Editions Memoring, Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
témoin, XVIIe siècle, XVIIIe siècle, Peinture de batailles, XIXe siècle, [SHS.ART]Humanities and Social Sciences/Art and art history, histoire de l'art, artiste
Abstract

International audience; Dès la Renaissance puis, de manière plus affirmée à partir du XVIIe siècle, des artistes ont accompagné les souverains et leurs armées sur le champ de bataille. Leur production, composée d’après des croquis pris sur le vif, peut-elle être perçue comme un témoignage privilégié des événements historiques qu’ils immortalisaient, comme ils en revendiquaient l’ambition ?Cet ouvrage vise à présenter, du XVIIe au XIXe siècle, une synthèse de ces maîtres connus ou oubliés qui, au gré de l’évolution du goût et des courants artistiques auxquels ils étaient affiliés, cherchaient à rendre dans leurs œuvres un aspect « exact et vrai » des scènes de combat et des lieux qui s’offraient à leurs regards.

Published
2021

52. Le tumulte des passions. L’expression plastique de la sonorité du drame dans la peinture de la Révolution française entre 1789 et 1794

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), École du Louvre (EDL), CRIHAM-Centre de Recherche Interdisciplinaire en Histoire, Histoire de l'Art et Musicologie-EA 4270, Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
Tumulte, sonorité, passions, expression plastique, drame, [SHS.ART]Humanities and Social Sciences/Art and art history, peinture, Révolution française, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2021

53. Identification of candidate parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets

Author

Kia, Demis A., Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H., Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A., Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W., Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Bras, Jose, PhD, John Quinn, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, 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, J. Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., 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., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, Francisco, Bergareche Yarza, Jesús A., Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María T., Buiza-Rueda, Dolores, Càmara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernàndez, Manel, Fernàndez-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria J., Gonzalez-Aramburu, Isabel, Pagola, Ana G., Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Mèndez-del-Barrio, Carlota, González, Manuel Menéndez, Adolfo Mínguez, Marina Mata, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Perinán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, 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, Weale, Michael, Ramasamy, Adaikalavan, Smith, Colin, Guelfi, Manuel Sebastian, D'sa, Karishma, Forabosco, Paola, Botiá, Juan A., and Universidad de Cantabria

Subjects
Candidate gene, Protein catabolic process, Gene Expression, Genome-wide association study, Computational biology, Biology, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, Databases, Genetic, Humans, Online First, 030212 general & internal medicine, Epigenetics, Gene, Genetic Association Studies, Genetic association, Original Investigation, Research, Parkinson Disease, Protein ubiquitination, Neurology (clinical), Candidate Disease Gene, 030217 neurology & neurosurgery, Comments, Genome-Wide Association Study
Abstract

Key Points Question What genes and genomic processes underlie risk of sporadic Parkinson disease? Findings This genetic association study integrated Parkinson disease genome-wide association study data and brain-derived gene regulation data using various complementary bioinformatic tools and identified 11 candidate genes with evidence of disease-associated regulatory changes. Coexpression and protein level analyses of these genes demonstrated a significant functional association with known mendelian Parkinson disease genes. Meaning This study suggests that gene regulation data may be used to identify candidate genes and pathways involved in sporadic Parkinson disease., Importance Substantial genome-wide association study (GWAS) work in Parkinson disease (PD) has led to the discovery of an increasing number of loci shown reliably to be associated with increased risk of disease. Improved understanding of the underlying genes and mechanisms at these loci will be key to understanding the pathogenesis of PD. Objective To investigate what genes and genomic processes underlie the risk of sporadic PD. Design and Setting This genetic association study used the bioinformatic tools Coloc and transcriptome-wide association study (TWAS) to integrate PD case-control GWAS data published in 2017 with expression data (from Braineac, the Genotype-Tissue Expression [GTEx], and CommonMind) and methylation data (derived from UK Parkinson brain samples) to uncover putative gene expression and splicing mechanisms associated with PD GWAS signals. Candidate genes were further characterized using cell-type specificity, weighted gene coexpression networks, and weighted protein-protein interaction networks. Main Outcomes and Measures It was hypothesized a priori that some genes underlying PD loci would alter PD risk through changes to expression, splicing, or methylation. Candidate genes are presented whose change in expression, splicing, or methylation are associated with risk of PD as well as the functional pathways and cell types in which these genes have an important role. Results Gene-level analysis of expression revealed 5 genes (WDR6 [OMIM 606031], CD38 [OMIM 107270], GPNMB [OMIM 604368], RAB29 [OMIM 603949], and TMEM163 [OMIM 618978]) that replicated using both Coloc and TWAS analyses in both the GTEx and Braineac expression data sets. A further 6 genes (ZRANB3 [OMIM 615655], PCGF3 [OMIM 617543], NEK1 [OMIM 604588], NUPL2 [NCBI 11097], GALC [OMIM 606890], and CTSB [OMIM 116810]) showed evidence of disease-associated splicing effects. Cell-type specificity analysis revealed that gene expression was overall more prevalent in glial cell types compared with neurons. The weighted gene coexpression performed on the GTEx data set showed that NUPL2 is a key gene in 3 modules implicated in catabolic processes associated with protein ubiquitination and in the ubiquitin-dependent protein catabolic process in the nucleus accumbens, caudate, and putamen. TMEM163 and ZRANB3 were both important in modules in the frontal cortex and caudate, respectively, indicating regulation of signaling and cell communication. Protein interactor analysis and simulations using random networks demonstrated that the candidate genes interact significantly more with known mendelian PD and parkinsonism proteins than would be expected by chance. Conclusions and Relevance Together, these results suggest that several candidate genes and pathways are associated with the findings observed in PD GWAS studies., This genetic association study investigates what genes and genomic processes underlie the risk of sporadic Parkinson disease.

Published
2021

54. Le détail militaire, source d’analyse, de compréhension et de ré-attribution picturale au XIXe siècle : étude de cas concrets sous le Consulat et le Second Empire

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, École du Louvre (EDL), Aude NICOLAS (Criham / Ecole du Louvre), and Margot RENARD (InTRu)

Subjects
Consulat, réattribution, Détail, compréhension, iconographie, Second Empire, [SHS.ART]Humanities and Social Sciences/Art and art history, peinture militaire, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2020

56. Genetic discovery and risk characterization in type 2 diabetes across diverse populations

Author

Polfus, Linda M., primary, Darst, Burcu F., additional, Highland, Heather, additional, Sheng, Xin, additional, Ng, Maggie C.Y., additional, Below, Jennifer E., additional, Petty, Lauren, additional, Bien, Stephanie, additional, Sim, Xueling, additional, Wang, Wei, additional, Fontanillas, Pierre, additional, Patel, Yesha, additional, Preuss, Michael, additional, Schurmann, Claudia, additional, Du, Zhaohui, additional, Lu, Yingchang, additional, Rhie, Suhn K., additional, Mercader, Joseph M., additional, Tusie-Luna, Teresa, additional, González-Villalpando, Clicerio, additional, Orozco, Lorena, additional, Spracklen, Cassandra N., additional, Cade, Brian E., additional, Jensen, Richard A., additional, Sun, Meng, additional, Joo, Yoonjung Yoonie, additional, An, Ping, additional, Yanek, Lisa R., additional, Bielak, Lawrence F., additional, Tajuddin, Salman, additional, Nicolas, Aude, additional, Chen, Guanjie, additional, Raffield, Laura, additional, Guo, Xiuqing, additional, Chen, Wei-Min, additional, Nadkarni, Girish N., additional, Graff, Mariaelisa, additional, Tao, Ran, additional, Pankow, James S., additional, Daviglus, Martha, additional, Qi, Qibin, additional, Boerwinkle, Eric A., additional, Liu, Simin, additional, Phillips, Lawrence S., additional, Peters, Ulrike, additional, Carlson, Chris, additional, Wikens, Lynne R., additional, Le Marchand, Loic, additional, North, Kari E., additional, Buyske, Steven, additional, Kooperberg, Charles, additional, Loos, Ruth J.F., additional, Stram, Daniel O., additional, and Haiman, Christopher A., additional

Published
2021
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57. Introduction : considérer le détail dans la peinture d'histoire et la sculpture monumentale du XIXe siècle à nos jours

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, École du Louvre (EDL), Aude NICOLAS (Criham / Ecole du Louvre), and Margot RENARD (InTRu)

Subjects
[SHS.ART]Humanities and Social Sciences/Art and art history, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2020

58. Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study

Author

Noyce, Alastair J., Kia, Demis A., Hemani, Gibran, Nicolas, Aude, Price, T. Ryan, De Pablo-Fernandez, Eduardo, Haycock, Philip C., Lewis, Patrick A., Foltynie, Thomas, Davey Smith, George, Schrag, Anette, Lees, Andrew J., Hardy, John, Singleton, Andrew, Nalls, Mike A., Pearce, Neil, Lawlor, Debbie A., and Wood, Nicholas W.

Subjects
Genetic testing -- Usage, Parkinson disease -- Risk factors -- Genetic aspects, Body mass index -- Health aspects, Biological sciences
Abstract

Background Both positive and negative associations between higher body mass index (BMI) and Parkinson disease (PD) have been reported in observational studies, but it has been difficult to establish causality because of the possibility of residual confounding or reverse causation. To our knowledge, Mendelian randomisation (MR)-the use of genetic instrumental variables (IVs) to explore causal effects-has not previously been used to test the effect of BMI on PD. Methods and findings Two-sample MR was undertaken using genome-wide association (GWA) study data. The associations between the genetic instruments and BMI were obtained from the GIANT consortium and consisted of the per-allele difference in mean BMI for 77 independent variants that reached genome-wide significance. The per-allele difference in log-odds of PD for each of these variants was estimated from a recent meta-analysis, which included 13,708 cases of PD and 95,282 controls. The inverse-variance weighted method was used to estimate a pooled odds ratio (OR) for the effect of a 5-kg/m.sup.2 higher BMI on PD. Evidence of directional pleiotropy averaged across all variants was sought using MR-Egger regression. Frailty simulations were used to assess whether causal associations were affected by mortality selection. A combined genetic IV expected to confer a lifetime exposure of 5-kg/m.sup.2 higher BMI was associated with a lower risk of PD (OR 0.82, 95% CI 0.69-0.98). MR-Egger regression gave similar results, suggesting that directional pleiotropy was unlikely to be biasing the result (intercept 0.002; p = 0.654). However, the apparent protective influence of higher BMI could be at least partially induced by survival bias in the PD GWA study, as demonstrated by frailty simulations. Other important limitations of this application of MR include the inability to analyse non-linear associations, to undertake subgroup analyses, and to gain mechanistic insights. Conclusions In this large study using two-sample MR, we found that variants known to influence BMI had effects on PD in a manner consistent with higher BMI leading to lower risk of PD. The mechanism underlying this apparent protective effect warrants further study., Author(s): Alastair J. Noyce 1,2, Demis A. Kia 1, Gibran Hemani 3,4, Aude Nicolas 5, T. Ryan Price 5, Eduardo De Pablo-Fernandez 1, Philip C. Haycock 3,4, Patrick A. Lewis [...]

Published
2017
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59. Mendelian Randomization Study Shows No Causal Relationship Between Circulating Urate Levels and Parkinson’s Disease

Author

Kia, Demis A., Noyce, Alastair J., White, Jon, Speed, Doug, Nicolas, Aude, Burgess, Stephen, Lawlor, Debbie A., Davey Smith, George, Singleton, Andrew, Nalls, Mike A., Sofat, Reecha, and Wood, Nicholas W.

Subjects
Journal Article, Genetic Variation, Humans, Parkinson Disease, Mendelian Randomization Analysis, Article, Uric Acid
Abstract

Objective: Observational studies have shown that increased plasma urate is associated with lower risk of Parkinson's disease (PD), but these studies were not designed to test causality. If a causal relationship exists, then modulating plasma urate levels could be a potential preventive avenue for PD. We used a large two-sample Mendelian randomization (MR) design to assess for a causal relationship between plasma urate and PD risk. Methods: We used a genetic instrument consisting of 31 independent loci for plasma urate on a case-control genome-wide association study data set, which included 13,708 PD cases and 95,282 controls. Individual effect estimates for each SNP were combined using the inverse-variance weighted (IVW) method. Two additional methods, MR-Egger and a penalized weighted median (PWM)-based approach, were used to assess potential bias attributed to pleiotropy or invalid instruments. Results: We found no evidence for a causal relationship between urate and PD, with an effect estimate from the IVW method of odds ratio (OR) 1.03 (95% confidence interval [CI], 0.88–1.20) per 1-standard-deviation increase in plasma urate levels. MR Egger and PWM analyses yielded similar estimates (OR, 0.99 [95% CI, 0.83–1.17] and 0.99 [95% CI, 0.86−1.14], respectively). Interpretation: We did not find evidence for a linear causal protective effect by urate on PD risk. The associations observed in previous observational studies may be, in part, attributed to confounding or reverse causality. In the context of the present findings, strategies to elevate circulating urate levels may not reduce overall PD risk. Ann Neurol 2018;84:191–199.

Published
2018

60. A Meta‐Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations

Author

Yau, Michelle S, primary, Kuipers, Allison L, additional, Price, Ryan, additional, Nicolas, Aude, additional, Tajuddin, Salman M, additional, Handelman, Samuel K, additional, Arbeeva, Liubov, additional, Chesi, Alessandra, additional, Hsu, Yi‐Hsiang, additional, Liu, Ching‐Ti, additional, Karasik, David, additional, Zemel, Babette S, additional, Grant, Struan FA, additional, Jordan, Joanne M, additional, Jackson, Rebecca D, additional, Evans, Michele K, additional, Harris, Tamara B, additional, Zmuda, Joseph M, additional, and Kiel, Douglas P, additional

Published
2020
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61. Exprimer le sacrifice glorieux sous le Premier Empire à travers le cas du Champ de bataille d’Eylau du baron Gros : une conception picturale novatrice ?

Author

NICOLAS, Aude, NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
Eylau, iconographie, histoire militaire, [SHS.ART] Humanities and Social Sciences/Art and art history, Baron Gros, Louvre, [SHS.ART]Humanities and Social Sciences/Art and art history, peinture, conception picturale, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

62. Lemonardo Da Moote. Pop Art or Classical Art. Or Neither

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
Dali, Painting, Vinci, Idris Mootee, Magritte, Lemonardo Da Moote, pop art, classical culture, old masters, [SHS.ART]Humanities and Social Sciences/Art and art history, ComputingMilieux_MISCELLANEOUS, contemporary art
Abstract

International audience

Published
2019

63. L’art et la bataille : les campagnes d’Italie (1800 et 1859)

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Bernard Giovanangeli, Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
Italie, photographie, Marengo, bataille, [SHS.ART]Humanities and Social Sciences/Art and art history, peinture, dessin, Autriche, France, Suisse, Solférino, [SHS.HIST]Humanities and Social Sciences/History, Art, sculpture
Abstract

Publication de la thèse de doctorat soutenue en 2015; International audience; Les campagnes d'Italie de 1800 et de 1859 ont pour point commun d'avoir été menées sur le même théâtre d'opérations, et parfois sur les mêmes champs de bataille comme à Montebello. Le rapprochement géographique et historique qui en résulte est suffisamment tentant pour oser proposer l'étude comparative entre ces événements du Consulat et du Second Empire, mais peut-on l'étendre au domaine artistique ?Ce défi intellectuel est l'objet du présent ouvrage, qui analyse les représentations peintes, dessinées, photographiées et sculptées des campagnes d'Italie de 1800 et de 1859. L'approche proposée met en parallèle les héritages et les innovations artistiques d'« un Napoléon à l'autre », en posant à chaque fois la question de la volonté de précision et des connaissances militaires des artistes chargés d'immortaliser les grandes phases de ces conflits.S'il s'agit avant tout d'un travail d'histoire de l'art, s'appuyant sur l'analyse stylistique et sur la réception critique des oeuvres, l'approche proposée s'inscrit au croisement d?autres disciplines (stratégie, tactique, histoire militaire, géographie, uniformologie, emblématique, armement?), permettant de détailler la conception et l'organisation des oeuvres afin de comprendre comment les artistes sont parvenus à rendre les faits, entre recherche de la précision topographique, souci de la bataille « vraie » et immortalisation du héros.

Published
2019

64. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

Author

Bandres-Ciga, Sara, Ahmed, Sarah, Gómez-Garre, Pilar, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun-Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Bras, Jose, PhD, John Quinn, Jesús, Silvia, Mok, Kin Y, Kinghorn, Kerri J, Billingsley, Kimberley, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Labrador-Espinosa, Miguel A, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Brice, Alexis, Danjou, Fabrice, Macias, Daniel, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Méndez-Del-Barrio, Carlota, Nicolas, Aude, Cookson, Mark R, Blauwendraat, Cornelis, Craig, David W, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Keuren-Jensen, Kendall Van, Shulman, Joshua M, Periñán-Tocino, Teresa, 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, Tejera-Parrado, Cristina, Reed, Xylena, Alcalay, Roy N, Gan-Or, Ziv, Rouleau, Guy A, Krohn, Lynne, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Vargas-González, Laura, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Diez-Fairen, Monica, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, de la Casa, Beatríz, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubé, Garcia, Ciara, García-Ruiz, Pedro, Heredia, Maria Jose Gomez, Gonzalez-Aramburu, Isabel, Sabir, Marya S, Tartari, Juan Pablo, Pagola, Ana Gorostidi, Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Buongiorno, Mariateresa, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, González, Manuel Menéndez, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Pagonabarraga, Javier, Pascual-Sedano, Berta, Pastor, Pau, Errazquin, Francisco Perez, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Gorostidi, Ana, Tabernero, Cesar, Tolosa, Eduard, Valldeoriola, Francesc, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Bergareche, Jesús Alberto, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Dalgard, Clifton L, Adeleye, Adelani, Soltis, Anthony R, Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Mondragon, Elisabet, Hupalo, Daniel N, Sukumar, Gauthaman, Pollard, Harvey B, Wilkerson, Matthew D, Martinez, Elisa McGrath, Vinagre-Aragon, Ana, Croitoru, Ioana, Marín-Lahoz, Juan, Fernández-Santiago, Rubén, Muñoz, Esteban, Sanchez Rodriguez, Antonio, Menéndez-González, Manuel, Suarez-San Martin, Esther, Vela-Desojo, Lydia, Mínguez-Castellanos, Adolfo, Gomez Heredia, Maria Jose, Perez Errazquin, Francisco, Romero-Acebal, Manolo, Martínez Torres, Irene, Kim, Jonggeol Jeffrey, Center, American Genome, Brooks, Janet, Saez-Atienzar, Sara, Jorda, Rafael, Botia, Juan A, Bonet-Ponce, Luis, Clarke, Carl, Morris, Huw, Edsall, Connor, Hernandez, Dena, Simon Sanchez, Javier, Marti, Maria José, López de Munain, Adolfo, Singleton, Andrew, Consortium, International Parkinson Disease Genomics, Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben, National Institutes of Health (US), Department of Defense (US), Michael J. Fox Foundation for Parkinson's Research, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Sociedad Andaluza de Neurología, Jacques and Gloria Gossweiler Foundation, Fundación Alicia Koplowitz, Fundación Mutua Madrileña, and Universidad de Sevilla

Subjects
0301 basic medicine, Male, Multifactorial Inheritance, Parkinson's disease, age at onset, Machine Learning, 0302 clinical medicine, Cost of Illness, genetics [Parkinson Disease], Population specific, genetics [Genetic Predisposition to Disease], Age of Onset, genetics [Ubiquitin-Protein Ligases], Aged, 80 and over, Age at onset, Chromosome Mapping, Parkinson Disease, Middle Aged, Spanish population, humanities, Neurology, Christian ministry, Female, Adult, Genotype, Ubiquitin-Protein Ligases, Article, risk haplotype, 03 medical and health sciences, Risk score risk haplotype, Political science, polygenic risk score, Humans, Genetic Predisposition to Disease, ddc:610, Risk haplotype, Parkinson's disease, Spanish population, age at onset, polygenic risk score, risk haplotype, Aged, DNA Methylation, 030104 developmental biology, Haplotypes, Spain, Case-Control Studies, Polygenic risk score, Neurology (clinical), Polygenic, Humanities, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Background: The Iberian Peninsula stands out as having variable levels of population admixture and isolation, making Spain an interesting setting for studying the genetic architecture of neurodegenerative diseases. Objectives: To perform the largest PD genome-wide association study restricted to a single country. Methods: We performed a GWAS for both risk of PD and age at onset in 7,849 Spanish individuals. Further analyses included population-specific risk haplotype assessments, polygenic risk scoring through machine learning, Mendelian randomization of expression, and methylation data to gain insight into disease-associated loci, heritability estimates, genetic correlations, and burden analyses. Results: We identified a novel population-specific genome-wide association study signal at PARK2 associated with age at onset, which was likely dependent on the c.155delA mutation. We replicated four genome-wide independent signals associated with PD risk, including SNCA, LRRK2, KANSL1/MAPT, and HLA-DQB1. A significant trend for smaller risk haplotypes at known loci was found compared to similar studies of non-Spanish origin. Seventeen PD-related genes showed functional consequence by two-sample Mendelian randomization in expression and methylation data sets. Long runs of homozygosity at 28 known genes/loci were found to be enriched in cases versus controls. Conclusions: Our data demonstrate the utility of the Spanish risk haplotype substructure for future fine-mapping efforts, showing how leveraging unique and diverse population histories can benefit genetic studies of complex diseases. The present study points to PARK2 as a major hallmark of PD etiology in Spain., This research was supported, in part, by the Intramural Research Program of the National Institutes of Health (National Institute on Aging, National Institute of Neurological Disorders and Stroke; project numbers: 1ZIA‐NS003154‐03, Z01‐AG000949‐02, and Z01‐ES101986). In addition, this work was supported by the Department of Defense (award W81XWH‐09‐2‐0128), The Michael J Fox Foundation for Parkinson's Research, and the ISCIII Grants PI 15/0878 (Fondos Feder) to V.A. and PI 15/01013 to J,H. This study was supported by grants from the Spanish Ministry of Economy and Competitiveness (PI14/01823, PI16/01575, PI18/01898, [SAF2006‐10126 (2006‐2009), SAF2010‐22329‐C02‐01 (2010‐2012), and SAF2013‐47939‐R (2013‐2018)]), co‐founded by ISCIII (Subdirección General de Evaluación y Fomento de la Investigación) and by Fondo Europeo de Desarrollo Regional (FEDER), the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía (CVI‐02526, CTS‐7685), the Consejería de Salud y Bienestar Social de la Junta de Andalucía (PI‐0437‐2012, PI‐0471‐2013), the Sociedad Andaluza de Neurología, the Jacques and Gloria Gossweiler Foundation, the Fundación Alicia Koplowitz, and the Fundación Mutua Madrileña. Pilar Gómez‐Garre was supported by the “Miguel Servet” (from ISCIII16 FEDER) and “Nicolás Monardes” (from Andalusian Ministry of Health) programmes. Silvia Jesús Maestre was supported by the “Juan Rodés” programme, and Daniel Macías‐García was supported by the “Río Hortega” programme (both from ISCIII‐FEDER). Cristina Tejera Parrado was supported by VPPI‐US from the Universidad de Sevilla. This research has been conducted using samples from the HUVR‐IBiS Biobank (Andalusian Public Health System Biobank and ISCIII‐Red de Biobancos PT13/0010/0056). This work was also supported by the grant PSI2014‐57643 from the Junta de Andalucía to the CTS‐438 group and a research award from the Andalusian Society of Neurology.

Published
2019

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

Author

Reynolds, Regina H, Botía, Juan, Gibbs, J Raphael, Duarte, Jacinto, Clarimón, Jordi, Dols-Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga, Javier, Gonzalez-Aramburu, Isabel, Rodriguez, Antonio Sanchez, Sierra, María, Hernandez, Dena G, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla-Sevilla, Francisco, Mínguez, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Singleton, Andrew B, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Heredia, Maria Jose Gomez, Errazquin, Francisco Perez, Hoenicka, Janet, Jimenez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Reed, Xylena, Lopez-Sendon, Jose Luis, Torres, Irene Martínez, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Leonard, Hampton, Okubadejo, Njideka U, Ojo, Oluwadamilola O, Pitcher, Toni, Anderson, Tim, Bentley, Steven, Fowdar, Javed, Mellick, George, Dalrymple-Alford, John, Henders, Anjali K, Kassam, Irfahan, Blauwendraat, Cornelis, Montgomery, Grant, Sidorenko, Julia, Zhang, Futao, Xue, Angli, Vallerga, Costanza L, Wallace, Leanne, Wray, Naomi R, Yang, Jian, Visscher, Peter M, Gratten, Jacob, Faghri, Faraz, Silburn, Peter A, Halliday, Glenda, Hickie, Ian, Kwok, John, Lewis, Simon, Kennedy, Martin, Pearson, John, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Nalls, Mike A, Kia, Demis A, Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Y, Wood, Nicholas W, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Trabzuni, Daniah, Hardy, John, Tan, Manuela, Morris, Huw R, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J, Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Gagliano Taliun, Sarah A, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simon Sanchez, Javier, Ryten, Mina, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M, Robak, Laurie, Lubbe, Steven, Mencacci, Niccolo E, Finkbeiner, Steven, Lungu, Codrin, Noyce, Alastair J, Scholz, Sonja W, Gan-Or, Ziv, Rouleau, Guy A, Krohan, Lynne, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Nicolas, Aude, Carrillo, Fátima, Carrión-Claro, Mario, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A, Macias, Daniel, Vargas-González, Laura, Méndez-Del-Barrio, Carlota, Periñán-Tocino, Teresa, Cookson, Mark R, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, González, Manuel Menéndez, Bandres-Ciga, Sara, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Rezola, Elisabet Mondragon, Yarza, Jesús Alberto Bergareche, Pagola, Ana Gorostidi, de Munain Arregui, Adolfo López, Ruiz-Martínez, Javier, and Cerdan, Debora

Subjects
Regulation of gene expression, 0303 health sciences, Cell type, Parkinson's disease, Microglia, Dopaminergic, Genomics, Disease, Biology, medicine.disease, Article, 03 medical and health sciences, 0302 clinical medicine, medicine.anatomical_structure, medicine, ddc:610, Neuroscience, Gene, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Parkinson’s disease (PD), with its characteristic loss of nigrostriatal dopaminergic neurons and deposition of α-synuclein in neurons, is often considered a neuronal disorder. However, in recent years substantial evidence has emerged to implicate glial cell types, such as astrocytes and microglia. In this study, we used stratified LD score regression and expression-weighted cell-type enrichment together with several brain-related and cell-type-specific genomic annotations to connect human genomic PD findings to specific brain cell types. We found that PD heritability attributable to common variation does not enrich in global and regional brain annotations or brain-related cell-type-specific annotations. Likewise, we found no enrichment of PD susceptibility genes in brain-related cell types. In contrast, we demonstrated a significant enrichment of PD heritability in a curated lysosomal gene set highly expressed in astrocytic, microglial, and oligodendrocyte subtypes, and in LoF-intolerant genes, which were found highly expressed in almost all tested cellular subtypes. Our results suggest that PD risk loci do not lie in specific cell types or individual brain regions, but rather in global cellular processes detectable across several cell types.

Published
2019

66. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

Author

Bandres-Ciga, S, Noyce, A, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Tienari, P, Stone, D, Nalls, M, Singleton, A, Chiò, A, Traynor, Bryan, J, Tremolizzo, L, Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Bryan J, Tremolizzo L, Bandres-Ciga, S, Noyce, A, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Tienari, P, Stone, D, Nalls, M, Singleton, A, Chiò, A, Traynor, Bryan, J, Tremolizzo, L, Bandres-Ciga, Sara, Noyce, Alastair J, Hemani, Gibran, Nicolas, Aude, Calvo, Andrea, Mora, Gabriele, Tienari, Pentti J, Stone, David J, Nalls, Mike A, Singleton, Andrew B, Chiò, Adriano, Bryan J, and Tremolizzo L

Abstract

Objective: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. Results: We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. Interpretation: Here, we have developed a public resource (https://lng-nia.shinyapps.io/mrshiny) which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470–481.

Published
2019

67. Le Général Lasalle (1775-1809): L'héritage d'une légende

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, and Bernard Giovanangeli

Subjects
Grande Armée, hussard, tactique, Napoléon Ier, histoire militaire, [SHS.ART]Humanities and Social Sciences/Art and art history, Général Lasalle, peinture, portrait, [SHS.HIST]Humanities and Social Sciences/History, cavalerie légère, Premier Empire
Abstract

International audience; Figure mythique de la cavalerie de la Grande Armée, le comte Antoine-Charles- Louis de Lasalle a fasciné des générations de cavaliers légers à travers le monde. Cet intarissable buveur, joueur, bretteur et amant prodigue semble pourtant avoir été victime de sa propre légende. Ce livre, qui s'appuie sur l'analyse de documents d'archives inédits propose, à travers une approche novatrice, d'ouvrir les perspectives en montrant la contribution et les héritages de celui qui peut être considéré comme l'un des meilleurs généraux de cavalerie légère de l'Empire et même de son siècle. L'apport incontournable de Lasalle dans l'évolution de la tactique et de l'identité de la cavalerie légère, ainsi que l'immortalisation de sa figure et de ses faits d'armes par les peintres et les sculpteurs de son vivant comme après sa mort, révèlent une personnalité riche et complexe qui a marqué de manière forte et durable l'histoire militaire et, à sa façon, l'histoire de l'art.

Published
2018

68. Les ossuaires du Risorgimento, lieux de confrontation d’un paradoxe intellectuel

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, and Maison des sciences de l’homme et de la société (MSHS), CPER

Subjects
Italie, batailles, étude, XIXe siècle, [SHS.ART]Humanities and Social Sciences/Art and art history, Risorgimento, [SHS.HIST]Humanities and Social Sciences/History, Ossuaires, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2018

69. Mendelian randomization study shows no causal relationship between circulating urate levels and Parkinson's disease:investigating causal relationship between urate and PD

Author

Kia, Demis A., Noyce, Alastair J., White, Jon, Speed, Doug, Nicolas, Aude, Burgess, Stephen, Lawlor, Debbie A., Davey Smith, George, Singleton, Andrew, Nalls, Mike A., Sofat, Reecha, and Wood, Nicholas W.

Abstract

Objective: Observational studies have shown that increased plasma urate is associated with lower risk of Parkinson’s Disease (PD), but these studies were not designed to test causality. If a causal relationship exists, then modulating plasma urate levels could be a potential preventive avenue for PD. We used a large two-sample Mendelian randomization (MR) design to assess for a causal relationship between plasma urate and PD risk.Methods: We used a genetic instrument consisting of 31 independent loci for plasma urate on a case-control genome-wide association study dataset which included 13,708 PD cases and 95,282 controls. Individual effect estimates for each SNP were combined using the inverse-variance weighted (IVW) method. Two additional methods, MR-Egger and a penalized weighted median based (PWM) approach, were used to assess potential bias due to pleiotropy or invalid instruments.Results: We found no evidence for a causal relationship between urate and PD, with an effect estimate from the IVW method of OR 1.03 (95% CI 0.88–1.20) per 1 SD increase in plasma urate levels. MR Egger and PWM analyses yielded similar estimates (OR 0.99 [95% CI 0.83-1.17] and 0.99 [95% CI 0.86−1.14], respectively).Interpretation: We do not find evidence for a linear causal protective effect by urate on PD risk. The associations observed in previous observational studies may be in part due to confounding or reverse causality. In the context of the present findings, strategies to elevate circulating urate levels may not reduce overall PD risk.

Published
2018

70. F35MUTATIONS IN CADPS IDENTIFIED IN PATIENTS WITH BIPOLAR DISORDER AFFECT PROTEIN FUNCTIONS AND RESULT IN A HIGHER SENSITIVITY TO STRESS

Author

Jamain, Stephane, primary, Sitbon, Jérémy, additional, Nestvogel, Denis, additional, Kappeler, Caroline, additional, Nicolas, Aude, additional, Maciuba, Stephanie, additional, Troudet, Réjane, additional, Courtois, Elisa, additional, Latapie, Violaine, additional, Barau, Caroline, additional, Leboyer, Marion, additional, Etain, Bruno, additional, Nosten-Bertrand, Marika, additional, Martin, Thomas FJ, additional, and Rhee, JeongSeop, additional

Published
2019
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71. CADPSfunctional mutations in patients with bipolar disorder increase the sensitivity to stress

Author

Sitbon, Jérémy, Nestvogel, Dennis, Kappeler, Caroline, Nicolas, Aude, Maciuba, Stephanie, Henrion, Annabelle, Troudet, Réjane, Courtois, Elisa, Grannec, Gaël, Latapie, Violaine, Barau, Caroline, Le Corvoisier, Philippe, Pietrancosta, Nicolas, Henry, Chantal, Leboyer, Marion, Etain, Bruno, Nosten-Bertrand, Marika, Martin, Thomas F. J., Rhee, JeongSeop, and Jamain, Stéphane

Abstract

Bipolar disorder is a severe and chronic psychiatric disease resulting from a combination of genetic and environmental risk factors. Here, we identified a significant higher mutation rate in a gene encoding the calcium-dependent activator protein for secretion (CADPS) in 132 individuals with bipolar disorder, when compared to 184 unaffected controls or to 21,070 non-psychiatric and non-Finnish European subjects from the Exome Aggregation Consortium. We found that most of these variants resulted either in a lower abundance or a partial impairment in one of the basic functions of CADPS in regulating neuronal exocytosis, synaptic plasticity and vesicular transporter-dependent uptake of catecholamines. Heterozygous mutant mice for Cadps+/−revealed that a decreased level of CADPS leads to manic-like behaviours, changes in BDNF level and a hypersensitivity to stress. This was consistent with more childhood trauma reported in families with mutation in CADPS, and more specifically in mutated individuals. Furthermore, hyperactivity observed in mutant animals was rescued by the mood-stabilizing drug lithium. Overall, our results suggest that dysfunction in calcium-dependent vesicular exocytosis may increase the sensitivity to environmental stressors enhancing the risk of developing bipolar disorder.

Published
2022
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72. LRP10 in α-synucleinopathies

Author

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

Published
2018
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73. A Meta‐Analysis of the Transferability of Bone Mineral Density Genetic Loci Associations From European to African Ancestry Populations.

Author

Yau, Michelle S, Kuipers, Allison L, Price, Ryan, Nicolas, Aude, Tajuddin, Salman M, Handelman, Samuel K, Arbeeva, Liubov, Chesi, Alessandra, Hsu, Yi‐Hsiang, Liu, Ching‐Ti, Karasik, David, Zemel, Babette S, Grant, Struan FA, Jordan, Joanne M, Jackson, Rebecca D, Evans, Michele K, Harris, Tamara B, Zmuda, Joseph M, and Kiel, Douglas P

Abstract

Genetic studies of bone mineral density (BMD) largely have been conducted in European populations. We therefore conducted a meta‐analysis of six independent African ancestry cohorts to determine whether previously reported BMD loci identified in European populations were transferable to African ancestry populations. We included nearly 5000 individuals with both genetic data and assessments of BMD. Genotype imputation was conducted using the 1000G reference panel. We assessed single‐nucleotide polymorphism (SNP) associations with femoral neck and lumbar spine BMD in each cohort separately, then combined results in fixed effects (or random effects if study heterogeneity was high, I2 index >60) inverse variance weighted meta‐analyses. In secondary analyses, we conducted locus‐based analyses of rare variants using SKAT‐O. Mean age ranged from 12 to 68 years. One cohort included only men and another cohort included only women; the proportion of women in the other four cohorts ranged from 52% to 63%. Of 56 BMD loci tested, one locus, 6q25 (C6orf97, p = 8.87 × 10−4), was associated with lumbar spine BMD and two loci, 7q21 (SLC25A13, p = 2.84 × 10−4) and 7q31 (WNT16, p = 2.96 × 10−5), were associated with femoral neck BMD. Effects were in the same direction as previously reported in European ancestry studies and met a Bonferroni‐adjusted p value threshold, the criteria for transferability to African ancestry populations. We also found associations that met locus‐specific Bonferroni‐adjusted p value thresholds in 11q13 (LRP5, p < 2.23 × 10−4), 11q14 (DCDC5, p < 5.35 × 10−5), and 17p13 (SMG6, p < 6.78 × 10−5) that were not tagged by European ancestry index SNPs. Rare single‐nucleotide variants in AKAP11 (p = 2.32 × 10−2), MBL2 (p = 4.09 × 10−2), MEPE (p = 3.15 × 10−2), SLC25A13 (p = 3.03 × 10−2), STARD3NL (p = 3.35 × 10−2), and TNFRSF11A (p = 3.18 × 10−3) were also associated with BMD. The majority of known BMD loci were not transferable. Larger genetic studies of BMD in African ancestry populations will be needed to overcome limitations in statistical power and to identify both other loci that are transferable across populations and novel population‐specific variants. © 2020 American Society for Bone and Mineral Research (ASBMR). [ABSTRACT FROM AUTHOR]

Published
2021
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74. A la conquête des Alpes : l’épopée de l’armée de Réserve, du col du Grand-Saint-Bernard au fort de Bard

Author

Nicolas, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), and NICOLAS, Aude

Subjects
armée de Réserve, Napoléon Bonaparte Premier Consul, histoire militaire, [SHS.ART] Humanities and Social Sciences/Art and art history, [SHS.ART]Humanities and Social Sciences/Art and art history, peinture, ComputingMilieux_MISCELLANEOUS, Alpes, Grand-Saint-Bernard, fort de Bard
Abstract

International audience

Published
2016

75. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, Fini, N, Fasano, A, Tremolizzo, L, Arosio, A, Ferrarese, C, Trojsi, F, Tedeschi, G, Monsurrò, M, Piccirillo, G, Femiano, C, Ticca, A, Ortu, E, La Bella, V, Spataro, R, Colletti, T, Sabatelli, M, Zollino, M, Conte, A, Luigetti, M, Lattante, S, Santarelli, M, Petrucci, A, Pugliatti, M, Pirisi, A, Parish, L, Occhineri, P, Giannini, F, Battistini, S, Ricci, C, Benigni, M, Cau, T, Loi, D, Calvo, A, Moglia, C, Brunetti, M, Barberis, M, Restagno, G, Casale, F, Marrali, G, Fuda, G, Ossola, I, Cammarosano, S, Canosa, A, Ilardi, A, Manera, U, Grassano, M, Tanel, R, Pisano, F, Mazzini, L, Messina, S, D'Alfonso, S, Corrado, L, Ferrucci, L, Harms, M, Goldstein, D, Shneider, N, Goutman, S, Simmons, Z, Miller, T, Chandran, S, Pal, S, Manousakis, G, Appel, S, Simpson, E, Wang, L, Baloh, R, Gibson, S, Bedlack, R, Lacomis, D, Sareen, D, Sherman, A, Bruijn, L, Penny, M, Moreno, C, Kamalakaran, S, Allen, A, Boone, B, Brown, R, Carulli, J, Chesi, A, Chung, W, Cirulli, E, Cooper, G, Couthouis, J, Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E., Nicolas, A, Kenna, K, Renton, A, Ticozzi, N, Faghri, F, Chia, R, Dominov, J, Kenna, B, Nalls, M, Keagle, P, Rivera, A, van Rheenen, W, Murphy, N, van Vugt, J, Geiger, J, van der Spek, R, Pliner, H, Shankaracharya, N, Smith, B, Marangi, G, Topp, S, Abramzon, Y, Gkazi, A, Eicher, J, Kenna, A, Logullo, F, Simone, I, Logroscino, G, Salvi, F, Bartolomei, I, Borghero, G, Murru, M, Costantino, E, Pani, C, Puddu, R, Caredda, C, Piras, V, Tranquilli, S, Cuccu, S, Corongiu, D, Melis, M, Milia, A, Marrosu, F, Marrosu, M, Floris, G, Cannas, A, Capasso, M, Caponnetto, C, Mancardi, G, Origone, P, Mandich, P, Conforti, F, Cavallaro, S, Mora, G, Marinou, K, Sideri, R, Penco, S, Mosca, L, Lunetta, C, Pinter, G, Corbo, M, Riva, N, Carrera, P, Volanti, P, Mandrioli, J, 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Day-Williams, A, Dion, P, Gitler, A, Glass, J, Han, Y, Harris, T, Hayes, S, Jones, A, Keebler, J, Krueger, B, Lasseigne, B, Levy, S, Lu, Y, Maniatis, T, McKenna-Yasek, D, Myers, R, Petrovski, S, Pulst, S, Raphael, A, Ravits, J, Ren, Z, Rouleau, G, Sapp, P, Sims, K, Staropoli, J, Waite, L, Wang, Q, Wimbish, J, Xin, W, Phatnani, H, Kwan, J, Broach, J, Arcila-Londono, X, Lee, E, Van Deerlin, V, Fraenkel, E, Ostrow, L, Baas, F, Zaitlen, N, Berry, J, Malaspina, A, Fratta, P, Cox, G, Thompson, L, Finkbeiner, S, Dardiotis, E, Hornstein, E, Macgowan, D, Heiman-Patterson, T, Hammell, M, Patsopoulos, N, Dubnau, J, Nath, A, Musunuri, R, Evani, U, Abhyankar, A, Zody, M, Kaye, J, Wyman, S, Lenail, A, Lima, L, Rothstein, J, Svendsen, C, Van Eyk, J, Maragakis, N, Kolb, S, Cudkowicz, M, Baxi, E, Benatar, M, Taylor, J, Wu, G, Rampersaud, E, Wuu, J, Rademakers, R, Züchner, S, Schule, R, Mccauley, J, Hussain, S, Cooley, A, Wallace, M, Clayman, C, Barohn, R, Statland, J, Swenson, A, Jackson, C, Trivedi, J, Khan, S, Katz, J, Jenkins, L, Burns, T, Gwathmey, K, Caress, J, Mcmillan, C, Elman, L, Pioro, E, Heckmann, J, So, Y, Walk, D, Maiser, S, Zhang, J, Silani, V, Gellera, C, Ratti, A, Taroni, F, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, G, Sorarù, G, Cereda, C, De Marchi, F, Corti, S, Ceroni, M, Siciliano, G, Filosto, M, Inghilleri, M, Peverelli, S, Colombrita, C, Poletti, B, Maderna, L, Del Bo, R, Gagliardi, S, Querin, G, Bertolin, C, Pensato, V, Castellotti, B, Camu, W, Mouzat, K, Lumbroso, S, Corcia, P, Meininger, V, Besson, G, Lagrange, E, Clavelou, P, Guy, N, Couratier, P, Vourch, P, Danel, V, Bernard, E, Lemasson, G, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, R, Sidle, K, Hardy, J, Singleton, A, Johnson, J, Arepalli, S, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, ten Asbroek, A, Muñoz-Blanco, J, Hernandez, D, Ding, J, Gibbs, J, Scholz, S, Floeter, M, Campbell, R, Landi, F, Bowser, R, Kirby, J, Pamphlett, R, Gerhard, G, Dunckley, T, Brady, C, Kowall, N, Troncoso, J, Le Ber, I, Kamel, F, Van Den Bosch, L, Strom, T, Meitinger, T, Shatunov, A, Van Eijk, K, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, Mclaughlin, R, Van Es, M, Weber, M, Boylan, K, Van Blitterswijk, M, Morrison, K, Basak, A, Mora, J, Drory, V, Shaw, P, Turner, M, Talbot, K, Hardiman, O, Williams, K, Fifita, J, Nicholson, G, Blair, I, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Al Kheifat, A, Andersen, P, Chio, A, Cooper-Knock, J, Dekker, A, Redondo, A, Gotkine, M, Hide, W, Iacoangeli, A, Kiernan, M, Landers, J, Mill, J, Neto, M, Pardina, J, Newhouse, S, Pinto, S, Pulit, S, Robberecht, W, Shaw, C, Sproviero, W, Tazelaar, G, van Damme, P, van den Berg, L, van Eijk, K, van Es, M, Veldink, J, Zatz, M, Bauer, D, Twine, N, Rogaeva, E, Zinman, L, Brice, A, Feldman, E, Ludolph, A, Weishaupt, J, Trojanowski, J, Stone, D, Tienari, P, Chiò, A, Traynor, B, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J. F. A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, null, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Mazzini, Letizia, Messina, Sonia, D'Alfonso, Sandra, Corrado, Lucia, Ferrucci, Luigi, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, George, Appel, Stanley, Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard S., Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Allen, Andrew S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steven, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Wyman, Stacia K., Van Eyk, Jennifer E., Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L. M. A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Mattieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Al Kheifat, Ahmad, Andersen, Peter, Chio, Adriano, Cooper-Knock, Jonathan, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Landers, John, McLaughlin, Russell, Mill, Jonathan, Neto, Miguel Mitne, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van Eijk, Kristel, van Es, Michael, van Vugt, Joke, Veldink, Jan, Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Rogaeva, Ekaterina, Zinman, Lorne, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.

Abstract

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS. Using a large-scale genome-wide association study and exome sequencing, we identified KIF5A as a novel gene associated with ALS. Our data broaden the phenotype resulting from mutations in KIF5A and highlight the importance of cytoskeletal defects in the pathogenesis of ALS.

Published
2018

76. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Opleiding Neurologie, Brain, Neurogenetica, Projectafdeling ALS, CMM Groep De Ridder, Circulatory Health, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella L., Logroscino, Giancarlo, Salvi, Fabrizio, Van Eijk, Kristel R., Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell, Van Es, Michael A., Dekker, Annelot, Pulit, Sara, Tazelaar, Gijs, van den Berg, Leonard, Veldink, Jan H., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, Opleiding Neurologie, Brain, Neurogenetica, Projectafdeling ALS, CMM Groep De Ridder, Circulatory Health, ZL Neuromusculaire Ziekten Medisch, Regenerative Medicine and Stem Cells, Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., van der Spek, Rick, Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Logullo, Francesco O., Simone, Isabella L., Logroscino, Giancarlo, Salvi, Fabrizio, Van Eijk, Kristel R., Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell, Van Es, Michael A., Dekker, Annelot, Pulit, Sara, Tazelaar, Gijs, van den Berg, Leonard, Veldink, Jan H., ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, and Project MinE ALS Sequencing Consortium

Published
2018

77. Un « souvenir de Solférino ». Vivre la bataille par procuration à travers la peinture de chevalet : histoire d’un défi artistique

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, and Académie de France à Rome-Villa Médicis, Biblioteca Hertziana

Subjects
conception artistique, Second Empire, XIXe siècle, [SHS.ART]Humanities and Social Sciences/Art and art history, Solférino, Risorgimento, [SHS.HIST]Humanities and Social Sciences/History, ComputingMilieux_MISCELLANEOUS, peinture de batailles
Abstract

International audience

Published
2017

78. Représenter le vainqueur, honorer le défunt : un art de l’exemplum virtutis

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, and CPER

Subjects
Représentation, iconographie, vainqueur, exemplum virtutis, XIXe siècle, [SHS.ART]Humanities and Social Sciences/Art and art history, défunt, [SHS.HIST]Humanities and Social Sciences/History, ComputingMilieux_MISCELLANEOUS, sculpture, art
Abstract

International audience

Published
2017

79. Estimating the causal influence of body mass index on risk of Parkinson disease:A Mendelian randomisation study

Author

Noyce, Alastair J., Kia, Demis A., Hemani, Gibran, Nicolas, Aude, Price, T. Ryan, De Pablo-Fernandez, Eduardo, Haycock, Philip C., Lewis, Patrick A., Foltynie, Thomas, Davey Smith, George, Schrag, Anette, Lees, Andrew J., Hardy, John, Singleton, Andrew, Nalls, Mike A., Pearce, Neil, Lawlor, Debbie A., and Wood, Nicholas W.

Subjects
Physiology, Social Sciences, Research and Analysis Methods, Body Mass Index, Mathematical and Statistical Techniques, Sociology, Consortia, Medicine and Health Sciences, Genome-Wide Association Studies, Genetics, Humans, Public and Occupational Health, Statistical Methods, Movement Disorders, Body Weight, Biology and Life Sciences, Computational Biology, Neurodegenerative Diseases, Parkinson Disease, Human Genetics, Genomics, Physical Activity, Mendelian Randomization Analysis, Genome Analysis, Neurology, Physiological Parameters, Research Design, Physical Sciences, Genetics of Disease, Observational Studies, Mathematics, Statistics (Mathematics), Research Article, Meta-Analysis, Genome-Wide Association Study
Abstract

Background Both positive and negative associations between higher body mass index (BMI) and Parkinson disease (PD) have been reported in observational studies, but it has been difficult to establish causality because of the possibility of residual confounding or reverse causation. To our knowledge, Mendelian randomisation (MR)—the use of genetic instrumental variables (IVs) to explore causal effects—has not previously been used to test the effect of BMI on PD. Methods and findings Two-sample MR was undertaken using genome-wide association (GWA) study data. The associations between the genetic instruments and BMI were obtained from the GIANT consortium and consisted of the per-allele difference in mean BMI for 77 independent variants that reached genome-wide significance. The per-allele difference in log-odds of PD for each of these variants was estimated from a recent meta-analysis, which included 13,708 cases of PD and 95,282 controls. The inverse-variance weighted method was used to estimate a pooled odds ratio (OR) for the effect of a 5-kg/m2 higher BMI on PD. Evidence of directional pleiotropy averaged across all variants was sought using MR–Egger regression. Frailty simulations were used to assess whether causal associations were affected by mortality selection. A combined genetic IV expected to confer a lifetime exposure of 5-kg/m2 higher BMI was associated with a lower risk of PD (OR 0.82, 95% CI 0.69–0.98). MR–Egger regression gave similar results, suggesting that directional pleiotropy was unlikely to be biasing the result (intercept 0.002; p = 0.654). However, the apparent protective influence of higher BMI could be at least partially induced by survival bias in the PD GWA study, as demonstrated by frailty simulations. Other important limitations of this application of MR include the inability to analyse non-linear associations, to undertake subgroup analyses, and to gain mechanistic insights. Conclusions In this large study using two-sample MR, we found that variants known to influence BMI had effects on PD in a manner consistent with higher BMI leading to lower risk of PD. The mechanism underlying this apparent protective effect warrants further study., Using Mendelian randomization, Nicholas Wood and colleagues examine the association between genetically conferred risk of higher BMI and the risk of Parkinson Disease., Author summary Why was this study done? There have been a number of conflicting observational studies describing associations between higher body mass index (BMI) and the future risk of Parkinson disease (PD). The most recent meta-analysis of cohort studies suggested that, overall, there was no effect. Observational studies have limitations, such that causal associations may not be reliably ascertained. This is the first time, to our knowledge, Mendelian randomisation has been used to study a potential causal association between genetically determined higher BMI and risk of PD. What did the researchers do and find? We used two-sample Mendelian randomisation, in which the relationship between genetic variants and BMI was ascertained from one study, and the relationship between the same genetic variants and PD was ascertained from a second study. Using this method, one can determine the estimated change in risk of PD per unit change in BMI. Our analysis indicated a potential causal influence of higher BMI protecting against PD. A limitation of the approach is that individuals who have higher BMI have a higher risk of earlier mortality, and therefore individuals with lower BMI may be over-represented amongst individuals diagnosed with PD. This “frailty effect” could at least partially account for the estimated causal effect. What do these findings mean? Further investigation, including exploring potential mechanisms, is warranted. Although our results suggest that higher BMI is potentially protective against PD, the negative health impacts of raising BMI are likely to be significant, and should be taken into account.

Published
2017

80. L’artiste en campagne : Auguste Raffet et la représentation du siège de Rome de 1849

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, École du Louvre (EDL), Gilles MALANDAIN, Jérôme GREVY, and François BRIZAY

Subjects
siège de Rome, histoire militaire, XIXe siècle, lithographie, [SHS.ART]Humanities and Social Sciences/Art and art history, Raffet, [SHS.HIST]Humanities and Social Sciences/History, histoire de l'art, ComputingMilieux_MISCELLANEOUS
Abstract

Dossier; National audience

Published
2017

81. Un souvenir des Pyramides : la perception occidentale de l’Egypte dans le répertoire ornemental et stylistique des arts décoratifs entre 1800 et 1820

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, and Criham – EA 4270, Université de Poitiers

Subjects
ornement, stylistique, arts décoratifs, Egypte, XIXe siècle, [SHS.ART]Humanities and Social Sciences/Art and art history, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2017

83. L’artiste témoin : Jean-Adolphe Beaucé et le tableau de la Bataille de Solférino

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
Beaucé, iconographie, maréchal Niel, Second Empire, histoire militaire, Napoléon III, [SHS.ART]Humanities and Social Sciences/Art and art history, Solférino, esquisse, ComputingMilieux_MISCELLANEOUS, peinture de batailles
Abstract

National audience

Published
2017

84. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

Author

Jansen, Iris E, Ye, Hui, Gibbs, J Raphael, Illig, Thomas, Jónsson, Pálmi V, Lambert, Jean-Charles, Langford, Cordelia, Lees, Andrew, Lichtner, Peter, Limousin, Patricia, Lopez, Grisel, Lorenz, Delia, Lungu, Codrin, Nalls, Mike A, McNeill, Alisdair, Moorby, Catriona, Moore, Matthew, Morris, Huw R, Morrison, Karen E, Escott-Price, Valentina, Mudanohwo, Ese, O'Sullivan, Sean S, Pearson, Justin, Perlmutter, Joel S, Ryten, Mina, Pétursson, Hjörvar, Pollak, Pierre, Post, Bart, Potter, Simon, Ravina, Bernard, Revesz, Tamas, Riess, Olaf, Rivadeneira, Fernando, Sawcer, Stephen, Botia, Juan A, Schapira, Anthony, Scheffer, Hans, Shaw, Karen, Shoulson, Ira, Shulman, Joshua, Sidransky, Ellen, Smith, Colin, Spencer, Chris C A, Stefánsson, Hreinn, Bettella, Francesco, Vandrovcova, Jana, Stockton, Joanna D, Strange, Amy, Talbot, Kevin, Tanner, Carlie M, Tashakkori-Ghanbaria, Avazeh, Tison, François, Trabzuni, Daniah, Traynor, Bryan J, Uitterlinden, André G, Velseboer, Daan, Simon Sanchez, Javier, Vidailhet, Marie, Walker, Robert, van de Warrenburg, Bart, Wickremaratchi, Mirdhu, Williams, Nigel, Williams-Gray, Caroline H, Winder-Rhodes, Sophie, Stefánsson, Kári, Martinez, Maria, Wood, Nicholas W, Castillo Lizardo, Melissa Gissel, Hardy, John, Heutink, Peter, Brice, Alexis, Gasser, Thomas, Singleton, Andrew B, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K, Heetveld, Sasja, Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M, Consortium, International Parkinson’s Disease Genetics, David, Della C, Nollen, Ellen A, Lechler, Marie C, Jain, Shushant, Shulman, Joshua M, Plagnol, Vincent, Hernandez, Dena G, Sharma, Manu, Sheerin, Una-Marie, Saad, Mohamad, SimónSánchez, Javier, Schulte, Claudia, Michels, Helen, Lesage, Suzanne, Sveinbjörnsdóttir, Sigurlaug, Arepalli, Sampath, Barker, Roger, Ben-Shlomo, Yoav, Berendse, Henk W, Berg, Daniela, Bhatia, Kailash, de Bie, Rob M A, Biffi, Alessandro, Seinstra, Renée I, Bloem, Bas, Bochdanovits, Zoltan, Bonin, Michael, Bras, Jose M, Brockmann, Kathrin, Brooks, Janet, Burn, David J, Majounie, Elisa, Lubbe, Steven, Price, Ryan, Lubbe, Steven J, Nicolas, Aude, Charlesworth, Gavin, Chen, Honglei, Chinnery, Patrick F, Chong, Sean, Clarke, Carl E, Cookson, Mark R, Cooper, J Mark, Corvol, Jean Christophe, Drouet, Valérie, Counsell, Carl, Damier, Philippe, Dartigues, Jean-François, Deloukas, Panos, Deuschl, Günther, Dexter, David T, van Dijk, Karin D, Dillman, Allissa, Durif, Frank, Dürr, Alexandra, Edkins, Sarah, Evans, Jonathan R, Foltynie, Thomas, Dong, Jing, Gardner, Michelle, Goate, Alison, Gray, Emma, Guerreiro, Rita, Harris, Clare, van Hilten, Jacobus J, Hofman, Albert, Hollenbeck, Albert, Holton, Janice, Hu, Michele, Wurster, Isabel, Mätzler, Walter, Hudson, Gavin, Hunt, Sarah E, Huttenlocher, Johanna, Epidemiology, Neurology, Amsterdam Neuroscience - Neurodegeneration, Human genetics, ANS - Neurodegeneration, Graduate School, ANS - Neuroinfection & -inflammation, Botia, Juan A [0000-0002-6992-598X], Chouhan, Amit K [0000-0003-2991-6402], Amin, Najaf [0000-0002-8944-1771], van Duijn, Cornelia M [0000-0002-2374-9204], David, Della C [0000-0001-8597-9470], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Candidate gene, G-PATCH, Parkinson's disease, methods [Sequence Analysis, DNA], Compound heterozygosity, AXON GUIDANCE, Animals, Genetically Modified, DOMAIN-CONTAINING 2, genetics [Parkinson Disease], Exome, Child, Cells, Cultured, Exome sequencing, Genetics, genetics [Drosophila melanogaster], High-Throughput Nucleotide Sequencing, Parkinson Disease, Genomics, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Mitochondria, ALZHEIMERS-DISEASE, Drosophila melanogaster, Whole-exome sequencing, genetics [alpha-Synuclein], alpha-Synuclein, genetics [Caenorhabditis elegans], RNA Interference, Adult, methods [High-Throughput Nucleotide Sequencing], NETWORK ANALYSIS, Adolescent, Biology, Loss-of-function, Young Adult, 03 medical and health sciences, α-synuclein, SDG 3 - Good Health and Well-being, ddc:570, Functional screening, Animals, Humans, Animal model, Genetic Predisposition to Disease, Allele, Caenorhabditis elegans, Parkin, RECEPTOR TYROSINE PHOSPHATASE, Research, RETROMER COMPLEX, Rare variants, Sequence Analysis, DNA, Human genetics, Retromer complex, DROSOPHILA MODEL, Disease Models, Animal, 030104 developmental biology, Case-Control Studies, Parkinson’s disease, CAENORHABDITIS-ELEGANS
Abstract

Background Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson’s disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated participants. To discover rare PD susceptibility variants, we performed WES in 1148 unrelated cases and 503 control participants. Candidate genes were subsequently validated for functions relevant to PD based on parallel RNA-interference (RNAi) screens in human cell culture and Drosophila and C. elegans models. Results Assuming autosomal recessive inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function variants in PD cases. Definitive replication and confirmation of these findings were hindered by potential heterogeneity and by the rarity of the implicated alleles. We therefore looked for potential genetic interactions with established PD mechanisms. Following RNAi-mediated knockdown, 15 of the genes modulated mitochondrial dynamics in human neuronal cultures and four candidates enhanced α-synuclein-induced neurodegeneration in Drosophila. Based on complementary analyses in independent human datasets, five functionally validated genes—GPATCH2L, UHRF1BP1L, PTPRH, ARSB, and VPS13C—also showed evidence consistent with genetic replication. Conclusions By integrating human genetic and functional evidence, we identify several PD susceptibility gene candidates for further investigation. Our approach highlights a powerful experimental strategy with broad applicability for future studies of disorders with complex genetic etiologies. Electronic supplementary material The online version of this article (doi:10.1186/s13059-017-1147-9) contains supplementary material, which is available to authorized users.

Published
2017

85. Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations:Evidence for oligogenic inheritance

Author

Lubbe, Steven J, Escott-Price, Valentina, Tomkins, James E, Lewis, Patrick A, Noyce, Alastair J, Lesage, Suzanne, Sharma, Manu, Schiff, Elena R, Levine, Adam P, Brice, Alexis, Gasser, Thomas, Hardy, John, Gibbs, J Raphael, Heutink, Peter, Wood, Nicholas W, Singleton, Andrew B, Williams, Nigel M, Morris, Huw R, Consortium, for International Parkinson’s Disease Genomics, Nalls, Mike A, Bras, Jose, Price, T Ryan, Nicolas, Aude, Jansen, Iris E, Mok, Kin Y, Pittman, Alan M, Human genetics, and Amsterdam Neuroscience - Neurodegeneration

Subjects
Male, Multifactorial Inheritance, Genotype, Association Studies Articles, Parkinson Disease, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, R1, pathology [Parkinson Disease], genetics [Parkinson Disease], Risk Factors, ddc:570, Mutation, Humans, genetics [Leucine-Rich Repeat Serine-Threonine Protein Kinase-2], Female, Genetic Predisposition to Disease, LRRK2 protein, human, Age of Onset, genetics [Multifactorial Inheritance]
Abstract

Oligogenic inheritance implies a role for several genetic factors in disease etiology. We studied oligogenic inheritance in\ud Parkinson’s (PD) by assessing the potential burden of additional rare variants in established Mendelian genes and/or GBA, in\ud individuals with and without a primary pathogenic genetic cause in two large independent cohorts totaling 7,900 PD cases\ud and 6,166 controls. An excess (�30%) of cases with a recognised primary genetic cause had�1 additional rare variants in\ud Mendelian PD genes, as compared with no known mutation PD cases (17%) and unaffected controls (16%), supporting our\ud hypothesis. Carriers of additional Mendelian gene variants have younger ages at onset (AAO). The effect of additional\ud Mendelian variants in LRRK2 G2019S mutation carriers, of which ATP13A2 variation is particularly common, may account for\ud some of the variation in penetrance. About 10% of No Known Mutation-PD cases harbour a rare GBA variant compared to\ud known pathogenic mutation PD cases (8%) and controls (5%), with carriers having earlier AAOs. Together, the data suggest\ud that the oligogenic inheritance of rare Mendelian variants may be important in patient with a primary pathogenic cause,\ud whereas GBA increases risk across all forms of PD. This study highlights the potential genetic complexity of Mendelian PD.\ud The identification of potential modifying variants provides new insights into disease mechanisms by potentially separating\ud relevant from benign variants and by the interaction between genes in specific pathways. In the future this may be relevant\ud to genetic testing and counselling of patients with PD and their families.

Published
2016

86. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.

Author

Guelfi, Sebastian, D'Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., International Parkinson's Disease Genomics Consortium (IPDGC), Noyce, Alastair J., Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., and Singleton, Andrew B.

Subjects
BASAL ganglia, GENETIC regulation, SUBSTANTIA nigra, GENETIC engineering, DOPAMINERGIC neurons, INTERNET servers
Abstract

Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/. Regulation of gene expression and splicing are thought to be tissue-specific. Here, the authors obtain genomic and transcriptomic data from putamen and substantia nigra of 117 neurologically healthy human brains and find that splicing eQTLs are enriched for neuron-specific regulatory information. [ABSTRACT FROM AUTHOR]

Published
2020
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88. Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Nicolas, Aude, primary, Kenna, Kevin P., additional, Renton, Alan E., additional, Ticozzi, Nicola, additional, Faghri, Faraz, additional, Chia, Ruth, additional, Dominov, Janice A., additional, Kenna, Brendan J., additional, Nalls, Mike A., additional, Keagle, Pamela, additional, Rivera, Alberto M., additional, Rheenen, Wouter van, additional, Murphy, Natalie A., additional, Vugt, Joke J.F.A. van, additional, Geiger, Joshua T., additional, Van der Spek, Rick A., additional, Pliner, Hannah A., additional, Smith, Bradley N., additional, Marangi, Giuseppe, additional, Topp, Simon D., additional, Abramzon, Yevgeniya, additional, Gkazi, Athina Soragia, additional, Eicher, John D., additional, Kenna, Aoife, additional, Consortium, ITALSGEN, additional, Mora, Gabriele, additional, Calvo, Andrea, additional, Mazzini, Letizia, additional, Riva, Nilo, additional, Mandrioli, Jessica, additional, Caponnetto, Claudia, additional, Battistini, Stefania, additional, Volanti, Paolo, additional, Bella, Vincenzo La, additional, Conforti, Francesca L., additional, Borghero, Giuseppe, additional, Messina, Sonia, additional, Simone, Isabella L., additional, Trojsi, Francesca, additional, Salvi, Fabrizio, additional, Logullo, Francesco O., additional, D’Alfonso, Sandra, additional, Corrado, Lucia, additional, Capasso, Margherita, additional, Ferrucci, Luigi, additional, (GTAC) Consortium, Genomic Translation for ALS Care, additional, Martins Moreno, Cristiane de Araujo, additional, Kamalakaran, Sitharthan, additional, Goldstein, David B., additional, Consortium, The ALS Sequencing, additional, Gitler, Aaron D., additional, Harris, Tim, additional, Myers, Richard M., additional, Consortium, NYGC ALS, additional, Phatnani, Hemali, additional, Musunuri, Rajeeva Lochan, additional, Evani, Uday Shankar, additional, Abhyankar, Avinash, additional, Zody, Michael Charles, additional, Foundation, Answer ALS, additional, Kaye, Julia, additional, Finkbeiner, Steven, additional, Wyman, Stacia, additional, Lenail, Alex, additional, Lima, Leandro, additional, Fraenkel, Ernest, additional, Svendsen, Clive N., additional, Thompson, Leslie M., additional, Van Eyk, Jennifer E., additional, Berry, James D., additional, Miller, Timothy M., additional, Kolb, Stephen J., additional, Cudkowicz, Merit, additional, Baxi, Emily, additional, Development (CReATe) Consortium, Clinical Research in ALS and Relate, additional, Benatar, Michael, additional, Taylor, J. Paul, additional, Rampersaud, Evadnie, additional, Wu, Gang, additional, Wuu, Joanne, additional, Consortium, SLAGEN, additional, Lauria, Giuseppe, additional, Verde, Federico, additional, Fogh, Isabella, additional, Tiloca, Cinzia, additional, Comi, Giacomo P., additional, Sorarù, Gianni, additional, Cereda, Cristina, additional, Consortium, French ALS, additional, Corcia, Philippe, additional, Laaksovirta, Hannu, additional, Myllykangas, Liisa, additional, Jansson, Lilja, additional, Valori, Miko, additional, Ealing, John, additional, Hamdallah, Hesham, additional, Rollinson, Sara, additional, Pickering-Brown, Stuart, additional, Orrell, Richard W., additional, Sidle, Katie C., additional, Malaspina, Andrea, additional, Hardy, John, additional, Singleton, Andrew B., additional, Johnson, Janel O., additional, Arepalli, Sampath, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Al-Sarraj, Safa, additional, King, Andrew, additional, Troakes, Claire, additional, Vance, Caroline, additional, Belleroche, Jacqueline de, additional, Baas, Frank, additional, Asbroek, Anneloor LMA ten, additional, Muñoz-Blanco, José Luis, additional, Hernandez, Dena G., additional, Ding, Jinhui, additional, Gibbs, J. Raphael, additional, Scholz, Sonja W., additional, Floeter, Mary Kay, additional, Campbell, Roy H., additional, Landi, Francesco, additional, Pulst, Stefan M., additional, Ravits, John M., additional, MacGowan, Daniel J. L., additional, Kirby, Janine, additional, Pioro, Erik, additional, Pamphlett, Roger, additional, Broach, James, additional, Gerhard, Glenn, additional, Dunckley, Travis L., additional, Brady, Christopher B., additional, Kowall, Neil W., additional, Troncoso, Juan C., additional, Le Ber, Isabelle, additional, Mouzat, Kevin, additional, Lumbroso, Serge, additional, Heiman-Patterson, Terry D., additional, Kamel, Freya, additional, Bosch, Ludo Van Den, additional, Baloh, Robert H., additional, Strom, Tim M., additional, Meitinger, Thomas, additional, Shatunov, Aleksey, additional, Van Eijk, Kristel R., additional, de Carvalho, Mamede, additional, Kooyman, Maarten, additional, Middelkoop, Bas, additional, Moisse, Matthieu, additional, McLaughlin, Russell L., additional, Van Es, Michael A., additional, Weber, Markus, additional, Boylan, Kevin B., additional, Van Blitterswijk, Marka, additional, Rademakers, Rosa, additional, Morrison, Karen E., additional, Basak, A. Nazli, additional, Mora, Jesús S., additional, Drory, Vivian E., additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Hardiman, Orla, additional, Williams, Kelly L., additional, Fifita, Jennifer A., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Rouleau, Guy A., additional, Esteban-Pérez, Jesús, additional, García-Redondo, Alberto, additional, Al-Chalabi, Ammar, additional, Rogaeva, Ekaterina, additional, Zinman, Lorne, additional, Ostrow, Lyle, additional, Maragakis, Nicholas J., additional, Rothstein, Jeffrey D., additional, Simmons, Zachary, additional, Cooper-Knock, Johnathan, additional, Brice, Alexis, additional, Goutman, Stephen A., additional, Feldman, Eva L., additional, Gibson, Summer B., additional, Taroni, Franco, additional, Ratti, Antonia, additional, Gellera, Cinzia, additional, Van Damme, Philip, additional, Robberecht, Wim, additional, Fratta, Pietro, additional, Sabatelli, Mario, additional, Lunetta, Christian, additional, Ludolph, Albert C., additional, Andersen, Peter M., additional, Weishaupt, Jochen H., additional, Camu, William, additional, Trojanowski, John Q., additional, Van Deerlin, Vivianna M., additional, Brown, Robert H., additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, Harms, Matthew B., additional, Glass, Jonathan D., additional, Stone, David J., additional, Tienari, Pentti, additional, Silani, Vincenzo, additional, Chiò, Adriano, additional, Shaw, Christopher E., additional, Traynor, Bryan J., additional, and Landers, John E., additional

Published
2018
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89. Organiser et traiter un corpus hétérogène : conception et réalisation d’une base de données informatique adaptée aux problématiques de l’histoire de l’art

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, Maison des Sciences de l’Homme et de la Société (MSHS) de l’Université de Poitiers, CNRS, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
base de données, [INFO.INFO-DB]Computer Science [cs]/Databases [cs.DB], informatique, réalisation, [SHS.ART]Humanities and Social Sciences/Art and art history, Conception, ComputingMilieux_MISCELLANEOUS, histoire de l’art, [INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL]
Abstract

National audience

Published
2016

90. Roger Peyre

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, Institut national d'Histoire de l'art, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
XXe siècle, Roger Peyre, critique d'art, [SHS.ART]Humanities and Social Sciences/Art and art history, histoire de l'art
Abstract

Notice de dictionnaire en ligne; International audience

Published
2016

91. De l’Alma (1854) à Malakoff (1855) : une évocation militaire et artistique de la campagne de Crimée (1854-1856)

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), NICOLAS, Aude, Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
stratégie, représentation, iconographie, tactique, Second Empire, photographie, histoire militaire, [SHS.ART] Humanities and Social Sciences/Art and art history, Peinture militaire, Crimée, [SHS.ART]Humanities and Social Sciences/Art and art history, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2013

92. The art and the battle : a study on the way of representing the French Italian campaigns (1800 ; 1859)

Author

NICOLAS, Aude, Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, École du Louvre (EDL), Université Paris Nanterre, Claire Barbillon, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
battles (Montebello / Marengo / Magenta / Solférino), peinture et patrimoine militaires, France / Italie / Autriche / Suisse, French Italian Campaigns (1800-1859), iconographie, tactique, Napoléon Bonaparte Premier Consul, Campagnes d’Italie de 1800 et de 1859, [SHS.ART]Humanities and Social Sciences/Art and art history, tactic, Napoleon Bonaparte First Consul, topography, France / Italy / Austria / Switzerland, iconography, Napoléon III, Napoleon 3rd, batailles (Montebello / Marengo / Magenta / Solférino), military painting and heritage, topographie
Abstract

This work deals with a comparative analysis of military paintings representing the French Italian Campaigns (1800 and 1859), including drawings, photographs and sculptures when it is relevant. The parallel is established between artistic heritages and innovations from “a Napoleon to the other”, asking the artists’ willing of precision and military knowledge when they represented these events, so these works of art are studied in adifferent way focused on a military approach using iconography. Although the main work is in history of art, based on the analysis of formal handling and critical reception, the methodology resorts other sciences in order to examine the artworks composition and organisation in details: in that way, artworks are confronted to topography, strategy, tactic and also military heritage testimonies (uniforms, emblems, weapons…) and history they aimed to show. The work is divided in three parts, successively studying topographical representation (did the artists travelled to see the places and did they represented precise and recognizable geographical details?), the way of painting battles (how fights were figured at the beginningand in the middle of the 19th century, can regiments and tactical manoeuvres be identified correctly?) and heroic perception (how heroes were showed in 1800 and in 1859 and how artworks can be ranked, between glorification and realistic representations?).; Cette étude a pour but d’analyser les représentations peintes – mais aussi, à chaque fois que cela était pertinent pour le propos, les dessins, les photographies et les sculptures – des campagnes d’Italie de 1800 et de 1859. L’approche comparative de ces deux événements met en parallèle les héritages et les innovations artistiques d’« un Napoléon à l’autre », en posant à chaque fois la question de la volonté de précision et des connaissances des artistes chargés d’immortaliser les grandes phases de ces conflits, de manière à apporter un regard principalement centré sur les aspects militaires de ces représentations, en recourant notamment à l’étude iconographique. S’il s’agit avant tout d’un travail d’histoire de l’art,s’appuyant sur l’analyse stylistique et sur la réception critique des œuvres, l’approche méthodologique proposée croise d’autres disciplines afin de détailler la conception et l’organisation des œuvres : topographie, stratégie, tactique et, plus largement, d’autres domaines plus spécifiquement liés au patrimoine militaire (uniformologie, emblématique, armement…). Les œuvres sont également confrontées aux objets conservés et à l’histoiremilitaire qu’elles représentent, afin de comprendre comment les artistes ont conçu leurs productions et sont parvenus à rendre les faits. L’organisation du propos est divisée en trois parties, étudiant successivement la représentation topographique (les artistes se sont-ils rendussur les lieux, ont-ils cherché à être précis en rendant les paysages et les particularités géographiques ?), le rendu de la bataille (comment la traite-t-on au début et au milieu du siècle, trouve-t-on un véritable souci de faire figurer les bonnes unités aux bons endroits et de tenter de comprendre et / ou de recomposer les manœuvres tactiques ?) et la perception héroïque (comment met-on en valeur le héros d’une époque à l’autre et comment différencier une œuvre au rendu réaliste d’une autre vouée à la glorification ou à l’édification ?).

Published
2015

93. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Author

Blauwendraat, Cornelis, primary, Faghri, Faraz, additional, Pihlstrom, Lasse, additional, Geiger, Joshua T., additional, Elbaz, Alexis, additional, Lesage, Suzanne, additional, Corvol, Jean-Christophe, additional, May, Patrick, additional, Nicolas, Aude, additional, Abramzon, Yevgeniya, additional, Murphy, Natalie A., additional, Gibbs, J. Raphael, additional, Ryten, Mina, additional, Ferrari, Raffaele, additional, Bras, Jose, additional, Guerreiro, Rita, additional, Williams, Julie, additional, Sims, Rebecca, additional, Lubbe, Steven, additional, Hernandez, Dena G., additional, Mok, Kin Y., additional, Robak, Laurie, additional, Campbell, Roy H., additional, Rogaeva, Ekaterina, additional, Traynor, Bryan J., additional, Chia, Ruth, additional, Chung, Sun Ju, additional, Hardy, John A., additional, Brice, Alexis, additional, Wood, Nicholas W., additional, Houlden, Henry, additional, Shulman, Joshua M., additional, Morris, Huw R., additional, Gasser, Thomas, additional, Krüger, Rejko, additional, Heutink, Peter, additional, Sharma, Manu, additional, Simón-Sánchez, Javier, additional, Nalls, Mike A., additional, Singleton, Andrew B., additional, and Scholz, Sonja W., additional

Published
2017
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95. La baïonnette et le burin : les monuments du camp de Châlons (1857-1869)

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, INHA, Ecole du Louvre, musée d’Orsay, musée Rodin, musée national du château de Compiègne, Université Paris Nanterre, Université du Texas-Dallas, Fondation Singer-Polignac, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
Second Empire, Napoléon III, art militaire, [SHS.ART]Humanities and Social Sciences/Art and art history, monument, Camp de Châlons, ComputingMilieux_MISCELLANEOUS, sculpture
Abstract

International audience

Published
2015

96. Relever, étudier, recomposer : aux sources de la conception picturale de la Bataille et du Panorama de Solférino

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, Université de Poitiers, Ecole du Louvre, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)

Subjects
Peinture, Italie, photographie, Second Empire, panorama, bataille, [SHS.ART]Humanities and Social Sciences/Art and art history, Solférino, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2015

97. Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Author

Lesage, Suzanne, Bras, Jose, Wood, Nicholas W, Gasser, Thomas, Hardy, John, Tison, François, Singleton, Andrew, Brice, Alexis, Group, French Parkinson's Disease Genetics Study, Cormier-Dequaire, Florence, Condroyer, Christel, Nicolas, Aude, Darwent, Lee, Guerreiro, Rita, Majounie, Elisa, Federoff, Monica, Heutink, Peter, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Department of Molecular Neurosciences, Institute of Neurology, UCL, Centre d'investigation clinique Neurosciences [CHU Pitié Salpêtrière] (CIC Neurosciences), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Laboratory of Neurogenetics, National Institute of Aging, Hertie Institute for Clinical Brain Research [Tubingen], University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), d'Eggis, Gilles, Centre d'investigation clinique pluridisciplinaire [CHU Pitié Salpêtrière] (CIC-P 1421), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP]

Subjects
[SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN] Life Sciences [q-bio]/Genetics, ddc:610, Clinical/Scientific Notes
Abstract

International audience; Rab proteins are small molecular weight guanosine triphosphatases involved in the regulation of vesicular trafficking.1 Three of 4 X-linked RAB genes are specific to the brain, including RAB39B. Recently, Wilson et al.2 reported that mutations in RAB39B cause X-linked intellectual disability (ID) and pathologically confirmed Parkinson disease (PD). They identified a ∼45-kb deletion resulting in the complete loss of RAB39B in an Australian kindred and a missense mutation in a large Wisconsin kindred. Here, we report an additional affected man with typical PD and mild mental retardation harboring a new truncating mutation in RAB39B.

Published
2015

98. La campagne d’Italie de 1859 : une étude stratégique et tactique des événements

Author

NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), NICOLAS, Aude, Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
stratégie, [SHS.HIST] Humanities and Social Sciences/History, tactique, Second Empire, histoire militaire, Napoléon III, [SHS.HIST]Humanities and Social Sciences/History, Campagne d'Italie, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2011

99. L’Association pour la Promotion du Patrimoine et de l’Histoire Militaires (APPHM)

Author

Nicolas, Aude, Allix, Juliette, Leclerc, Fabien, Jouves, Barbara, Le Berre, Timothée, Léonet, Pauline, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers, Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), and NICOLAS, Aude

Subjects
association, transmission, histoire militaire, patrimoine militaire, [SHS.ART] Humanities and Social Sciences/Art and art history, médiation, Conservation, recherche, [SHS.ART]Humanities and Social Sciences/Art and art history, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2011

100. Deux acquisitions récentes du musée de l’Armée au département Moderne (la sabretache d’artilleur à cheval – la sabretache de garde d’honneur)

Author

NICOLAS, Aude, NICOLAS, Aude, École du Louvre (EDL), Centre de Recherche Interdisciplinaires en Histoire, Histoire de l'Art et Musicologie (CRIHAM), Université de Poitiers-Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Institut Sciences de l'Homme et de la Société (IR SHS UNILIM), and Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-Université de Poitiers

Subjects
artillerie à cheval, acquisition, garde d’honneur, [SHS.ART] Humanities and Social Sciences/Art and art history, [SHS.ART]Humanities and Social Sciences/Art and art history, musée de l’Armée, militaria, ComputingMilieux_MISCELLANEOUS, Premier Empire, sabretache
Abstract

International audience

Published
2009

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