Friedreich’s ataxia: clinical features, pathogenesis and management
Author:
Affiliation:
1. Department of Molecular Neuroscience, Ataxia Centre, UCL Institute of Neurology, Queen Square, London, UK
Funder
NIH
Publisher
Oxford University Press (OUP)
Subject
General Medicine
Link
http://academic.oup.com/bmb/article-pdf/124/1/19/24331784/ldx034.pdf
Reference75 articles.
1. Prevalence gradients of Friedreich’s Ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge;Vankan;J Neurochem,2013
2. Biological and clinical characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data;Reetz;Lancet Neurol,2015
3. Ueber Degenerative Atrophie der Spinalen Hinterstränge;Friedreich;Arch Pathol Anat Phys Klin Med,1863
4. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features;Harding;Brain,1981
5. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
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