Concepedia

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls,

The Lancet Neurology · 2016 · 157 citations · 27 references

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References

27

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

, , +17

Scale for the assessment and rating of ataxia

T. Schmitz-Hübsch, Sophie Tézenas du Montcel, L. Baliko et al. · Neurology · 2006 · 2K citations · Full text

, , +16

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

, , +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

, , +10

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

, , +9