Andréa Richter

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

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Martine Girard, Roxanne Larivière, David A. Parfitt et al. · Proceedings of the National Academy of Sciences · 2012 · 191 citations

Pyramidal Spasticity, Neurodegenerative Diseases, Sacsin Knockout Mice +14

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

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

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

Karen E. Christensen, Charles Rohlicek, Grégor Andelfinger et al. · Human Mutation · 2008 · 107 citations

Heart Failure, Genetics, Molecular Biology +18