Serge B. Melançon

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

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

Neurologic Crises in Hereditary Tyrosinemia

Grant A. Mitchell, Jean Larochelle, Marie Lambert et al. · New England Journal of Medicine · 1990 · 233 citations

Hereditary Tyrosinemia, Neurological Disorder, Genetic Disorder +10

GAA Instability in Friedreich's Ataxia Shares a Common, DNA-Directed and Intraallelic Mechanism with Other Trinucleotide Diseases

A. Marquis Gacy, Geoffrey M. Goellner, Craig Spiro et al. · Molecular Cell · 1998 · 172 citations · Full text

Other Trinucleotide Diseases, Neurodegenerative Diseases, Genome Instability +11