Jean‐Louis Mandel

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 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

I. Oberlé, F. Rousseau, Dominique Heitz et al. · Science · 1991 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +16

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Jean Mosser, Anne‐Marie Douar, Claude‐Olivier Sarde et al. · Nature · 1993 · 1.2K citations

Life Sciences, Genetics, Molecular Genetics +7

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

Life Sciences, Genetics, Neurology +10

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Georges Imbert, Frédéric Saudou, Gaël Yvert et al. · Nature Genetics · 1996 · 855 citations

Life Sciences, Genetics, Molecular Genetics +13