Mireille Cossée

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Alexandra Dürr, Mireille Cossée, Yves Agid et al. · New England Journal of Medicine · 1996 · 1.1K citations · Full text

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Hélène Puccio, Delphine Simon, Mireille Cossée et al. · Nature Genetics · 2001 · 729 citations

Intramitochondrial Iron Deposits, Sensory Nerve Defect, Iron Metabolism +9

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

Mireille Cossée · Human Molecular Genetics · 2000 · 371 citations · Full text

Mitophagy, Genetics, Cell Death +19

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 364 citations · Full text

Genetics, Databases, Diagnosis +26