Jocelyne Mercier

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 434 citations

Genetic Disorder, Genetics, New Gene +7

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Laura Montermini, Andrea Richeter, Kenneth Morgan et al. · Annals of Neurology · 1997 · 270 citations

Genotype-phenotype Correlations, Clinical Disorders, Rare Diseases +15

A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis

Pierre Chagnon, Jacques L. Michaud, Grant A. Mitchell et al. · The American Journal of Human Genetics · 2002 · 118 citations · Full text

Hepatology, Genetics, Pathogenesis +4

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Andréa Richter, John D. Rioux, Jean‐Pierre Bouchard et al. · The American Journal of Human Genetics · 1999 · 91 citations · Full text

Mendelian Disorder, Location Score, Genetic Disorder +5

Localization of a Recessive Gene for North American Indian Childhood Cirrhosis to Chromosome Region 16q22—and Identification of a Shared Haplotype

Christine Bétard, Andrée Rasquin‐Weber, Carl G. Brewer et al. · The American Journal of Human Genetics · 2000 · 43 citations · Full text

Haplotype Determination, Shared Haplotype, Recessive Gene +8