检索结果 - Suzanne Lesage
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Role of Mendelian genes in “sporadic” Parkinson's disease 由 Suzanne Lesage, Alexis Brice
出版 2011Revisão -
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The genetic landscape of Parkinson's disease 由 Ariane Lunati, Suzanne Lesage, Alexis Brice
出版 2018Revisão -
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Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. 由 Markus Stoffel, Philippe Froguel, Jun Takeda, Habib Zouali, Nathalie Vionnet, S. Nishi, Irene T. Weber, Robert W. Harrison, S.J. Pilkis, Suzanne Lesage
出版 1992Artigo -
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A systematic screening to identify<i>de novo</i>mutations causing sporadic early-onset Parkinson's disease 由 Célia Kun‐Rodrigues, Christos Ganos, Rita Guerreiro, Susanne A. Schneider, Claudia Schulte, Suzanne Lesage, Lee Darwent, Peter Holmans, Andrew Singleton, Kailash P. Bhatia, José Brás
出版 2015Artigo -
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The infevers autoinflammatory mutation online registry: update with new genes and functions 由 Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El‐Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans R. Waterham, Carol A. Wise, Cyril Sarrauste de Menthière, Isabelle Touitou
出版 2008Artigo -
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A multidisciplinary study of patients with early-onset PD with and without parkin mutations 由 Ebba Lohmann, Stéphane Thobois, Suzanne Lesage, E. Broussolle, Sophie Tézenas du Montcel, M. -J. Ribeiro, Philippe Rémy, Antoine Pélissolo, Bruno Dubois, Luc Mallet, Pierre Pollak, Y. Agid, Alexis Brice
出版 2008Artigo -
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Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines 由 Jun Mitsui, Yuji Takahashi, Jun Goto, Hiroyuki Tomiyama, Shunpei Ishikawa, Hiroyo Yoshino, Narihiro Minami, Jeremy C. Smith, Suzanne Lesage, Hiroyuki Aburatani, Ichizo Nishino, Alexis Brice, Nobutaka Hattori, Shoji Tsuji
出版 2010Artigo -
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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism 由 Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H. Kaestner, Lois E. Greene, Orly Elpeleg
出版 2012Artigo -
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C9orf72 repeat expansions are a rare genetic cause of parkinsonism 由 Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Emmanuel Broussolle, Audrey Gabelle, Stéphane Thobois, Florence Pasquier, Karl Mondon, Patrick A. Dion, Daniel Rochefort, Guy A. Rouleau, Alexandra Dürr, Alexis Brice
出版 2013Artigo
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Medicine
Biology
Genetics
Gene
Disease
Internal medicine
Parkinson's disease
Genotype
Mutation
Pathology
Single-nucleotide polymorphism
Genome-wide association study
LRRK2
Genetic association
Dementia
Phenotype
Allele
Parkinsonism
Psychology
Computational biology
Neuroscience
Population
Bioinformatics
Environmental health
Parkin
Odds ratio
Pediatrics
Cohort
Exon
Locus (genetics)