Jean Mathieu

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie et al. · Nature Genetics · 1998 · 798 citations · Full text

Life Sciences, Genetics, Molecular Genetics +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 · 436 citations

Life Sciences, Genetics, Molecular Genetics +12

A 10-year study of mortality in a cohort of patients with myotonic dystrophy

Jean Mathieu, Per Allard, Lynne A. Potvin et al. · Neurology · 1999 · 412 citations

Medicine, Internal Medicine, Aging +12

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy

Jean Mathieu, Hélène Boivin, Danièle Meunier et al. · Neurology · 2001 · 377 citations

Medicine, Neurology, Neuromusculoskeletal Assessment +16

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Heidi Howard, David B. Mount, Daniel Rochefort et al. · Nature Genetics · 2002 · 278 citations

Medicine, Neurology, Neuroscience +16