Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families

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

Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

Karim Ouahchi, Makoto Arita, Herbert J. Kayden et al. · Nature Genetics · 1995 · 563 citations

Genetic Disorder, Genetics, Inherited Metabolic Disease +4

Clinical features and classification of inherited ataxias.

A. E. Harding · PubMed · 1993 · 424 citations

Inherited Ataxias, Neurological Disorder, Genetic Disorder +4

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

Susan Chamberlain, Jacqui Shaw, Alison Rowland et al. · Nature · 1988 · 316 citations

Mendelian Disorder, Genetic Disorder, Genetics +5