Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil

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

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

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Mathieu Anheim, Marie‐Céline Fleury, B. Monga et al. · Neurogenetics · 2009 · 185 citations

Life Sciences, Genetics, Neurology +15

Revisiting the Genetic Ancestry of Brazilians Using Autosomal AIM-Indels

Fernanda Saloum de Neves Manta, Rui Pereira, Romulo Vianna et al. · PLoS ONE · 2013 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

Damian Labuda, Carlos J. Miranda, John T. Poirier et al. · Neurology · 2000 · 102 citations

Life Sciences, Genetics, Molecular Genetics +10