New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation

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

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

Agnès Rötig, Pascale de Lonlay, Dominique Chrétien et al. · Nature Genetics · 1997 · 991 citations

Life Sciences, Biochemistry, Genetics +12

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

A E Harding · Brain · 1981 · 920 citations

Life Sciences, Genetics, Neurology +10

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Michael Babcock, Deepika de Silva, Robert Oaks et al. · Science · 1997 · 919 citations

Life Sciences, Genetics, Molecular Genetics +17

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

Victoria Campuzano, Laura Montermini, Yves Lutz et al. · Human Molecular Genetics · 1997 · 741 citations

Life Sciences, Cell Biology, Molecular Biology +14