Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

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

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Aleksandra Trifunović, Anna Wredenberg, Maria Falkenberg et al. · Nature · 2004 · 2.7K citations

Life Sciences, Genetics, Molecular Biology +12

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

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

A. E. Harding · The Lancet · 1983 · 961 citations

Life Sciences, Neurology, Neuroscience +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