Pathophysiogical and therapeutic progress in Friedreich ataxia
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology
Reference133 articles.
1. 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;Anheim;Neurogenetics,2010
2. The autosomal recessive cerebellar ataxias;Anheim;N Engl J Med,2012
3. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
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. Clinical and genetic study of Friedreich ataxia in an Australian population;Delatycki;Am J Med Genet,1999
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3. Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for Friedreich ataxia;Trends in Molecular Medicine;2024-02
4. Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data;Annals of Clinical and Translational Neurology;2023-09-10
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