Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

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

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

Yibing Li, Ting‐Ting Huang, Elaine J. Carlson et al. · Nature Genetics · 1995 · 1.8K citations

Medicine, Cardiology, Genetics +10

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

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Alessandro Filla, Giuseppe De Michele, Francesca Cavalcanti et al. · PubMed · 1996 · 475 citations

Medicine, Molecular Genetics, Neurology +9