日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families

ITSN1是否应被视为孟德尔遗传的帕金森病基因?三个新家族的描述

Cogan, Guillaume; Tesson, Christelle; Welment, Lisa; Clot, Fabienne; LeGuern, Eric; Lanore, Aymeric; Dürr, Alexandra; Cormier-Dequaire, Florence; Debilly, Bérengère; Planes, Marc; Mangone, Graziella; Lesage, Suzanne; Brice, Alexis

Author Correction: Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis

作者更正:GBA1变异体的分类及其对帕金森病的影响:计算机模拟评分分析

Lanore, Aymeric; Tesson, Christelle; Basset, Aymeric; Lejeune, François-Xavier; Cogan, Guillaume; Mangone, Graziella; Sambin, Sara; Bertille, Nathalie; Anheim, Mathieu; Arnulf, Isabelle; Ansquer, Solène; Brandel, Jean-Philippe; Brefel-Courbon, Christine; Defebvre, Luc; Drapier, Sophie; Eusebsio, Alexandre; Fabbri, Margherita; Giordana, Caroline; Hainque, Elodie; Lehericy, Stephane; Marques, Ana; Moreau, Caroline; Moro, Elena; Ory, Fabienne; Rolland, Anne-Sophie; Thobois, Stéphane; Vidailhet, Marie; Devos, David; Mariani, Louise-Laure; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe

Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.

GBA1 变异体的分类及其对帕金森病的影响:计算机评分分析

Lanore Aymeric, Tesson Christelle, Basset Aymeric, Lejeune François-Xavier, Cogan Guillaume, Mangone Graziella, Sambin Sara, Bertille Nathalie, Anheim Mathieu, Arnulf Isabelle, Ansquer Solène, Brandel Jean-Philippe, Brefel-Courbon Christine, Defebvre Luc, Drapier Sophie, Eusebsio Alexandre, Fabbri Margherita, Giordana Caroline, Hainque Elodie, Lehericy Stephane, Marques Ana, Moreau Caroline, Moro Elena, Ory Fabienne, Rolland Anne-Sophie, Thobois Stéphane, Vidailhet Marie, Devos David, Mariani Louise-Laure, Lesage Suzanne, Brice Alexis, Corvol Jean-Christophe

Confirmation of RAB32 Ser71Arg Involvement in Parkinson's Disease

证实 RAB32 Ser71Arg 参与帕金森病

Cogan, Guillaume; Tesson, Christelle; Brefel-Courbon, Christine; Lanore, Aymeric; Kodjovi, Gatepe Cedoine; Welment, Lisa; Clot, Fabienne; Lesage, Suzanne; Brice, Alexis

Screening of Hidden Pathogenic Structural Variants in PRKN

PRKN中隐匿致病结构变异的筛查

Daida, Kensuke; Cogan, Guillaume; Tesson, Christelle; Lesage, Suzanne; Schaake, Susen; Balck, Alexander; Trinh, Joanne; Lohmann, Katja; Malik, Laksh; Baker, Breeana; Paquette, Kimberly; Moller, Abraham; Sue, Carolyn; Funayama, Manabu; Hattori, Nobutaka; Singleton, Andrew; Klein, Christine; Brice, Alexis; Billingsley, Kimberley J; Blauwendraat, Cornelis

A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum

摩洛哥一个家族中由PARK7基因突变引起的早发性帕金森病:扩大了地理分布范围

El Otmani, Hicham; Tesson, Christelle; Brice, Alexis; Lesage, Suzanne

RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

RAB32 Ser71Arg 与常染色体显性帕金森病:连锁、关联和功能分析

Gustavsson, Emil K; Follett, Jordan; Trinh, Joanne; Barodia, Sandeep K; Real, Raquel; Liu, Zhiyong; Grant-Peters, Melissa; Fox, Jesse D; Appel-Cresswell, Silke; Stoessl, A Jon; Rajput, Alex; Rajput, Ali H; Auer, Roland; Tilney, Russel; Sturm, Marc; Haack, Tobias B; Lesage, Suzanne; Tesson, Christelle; Brice, Alexis; Vilariño-Güell, Carles; Ryten, Mina; Goldberg, Matthew S; West, Andrew B; Hu, Michele T; Morris, Huw R; Sharma, Manu; Gan-Or, Ziv; Samanci, Bedia; Lis, Pawel; Periñan, Maria Teresa; Amouri, Rim; Ben Sassi, Samia; Hentati, Faycel; Tonelli, Francesca; Alessi, Dario R; Farrer, Matthew J

Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scores

通过多基因评分对帕金森病认知衰退的遗传学进行代理分析

Faouzi, Johann; Tan, Manuela; Casse, Fanny; Lesage, Suzanne; Tesson, Christelle; Brice, Alexis; Mangone, Graziella; Mariani, Louise-Laure; Iwaki, Hirotaka; Colliot, Olivier; Pihlstrøm, Lasse; Corvol, Jean-Christophe

Genotype-phenotype correlation in PRKN-associated Parkinson's disease

PRKN相关帕金森病中的基因型-表型相关性

Menon, Poornima Jayadev; Sambin, Sara; Criniere-Boizet, Baptiste; Courtin, Thomas; Tesson, Christelle; Casse, Fanny; Ferrien, Melanie; Mariani, Louise-Laure; Carvalho, Stephanie; Lejeune, Francois-Xavier; Rebbah, Sana; Martet, Gaspard; Houot, Marion; Lanore, Aymeric; Mangone, Graziella; Roze, Emmanuel; Vidailhet, Marie; Aasly, Jan; Gan Or, Ziv; Yu, Eric; Dauvilliers, Yves; Zimprich, Alexander; Tomantschger, Volker; Pirker, Walter; Álvarez, Ignacio; Pastor, Pau; Di Fonzo, Alessio; Bhatia, Kailash P; Magrinelli, Francesca; Houlden, Henry; Real, Raquel; Quattrone, Andrea; Limousin, Patricia; Korlipara, Prasad; Foltynie, Thomas; Grosset, Donald; Williams, Nigel; Narendra, Derek; Lin, Hsin-Pin; Jovanovic, Carna; Svetel, Marina; Lynch, Timothy; Gallagher, Amy; Vandenberghe, Wim; Gasser, Thomas; Brockmann, Kathrin; Morris, Huw R; Borsche, Max; Klein, Christine; Corti, Olga; Brice, Alexis; Lesage, Suzanne; Corvol, Jean Christophe

Long-Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early-Onset Parkinson's Disease

长读长测序揭示了两名早发性帕金森病患者PRKN基因结构变异的复杂性

Cogan, Guillaume; Daida, Kensuke; Billingsley, Kimberley J; Tesson, Christelle; Forlani, Sylvie; Jornea, Ludmila; Arnaud, Lionel; Tissier, Laurène; LeGuern, Eric; Singleton, Andrew B; Ferrien, Mélanie; Bernard, Hélène Gervais; Lesage, Suzanne; Blauwendraat, Cornelis; Brice, Alexis