SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015240.pdf
Reference26 articles.
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2. Hersheson J, Haworth A, Houlden H : The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 2012; 33: 1324–1332.
3. Ruano L, Melo C, Silva MC, Coutinho P : The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014; 42: 174–183.
4. Casari G, De Fusco M, Ciarmatori S et al: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973–983.
5. Wilkinson PA, Crosby AH, Turner C et al: A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 2004; 127 (Pt 5): 973–980.
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