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参考文献

关键文献

Corben LA, Lynch D, Pandolfo M, et al; Clinical Management Guidelines Writing Group. Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis. 2014 Nov 30;9:184.全文  摘要

Subramony SH, Genetics of inherited ataxias. Continuum. 2005;11:115-42.

Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013 Nov;31(4):987-1007.全文  摘要

Biancalana V, Glaeser D, McQuaid S, et al. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet. 2015 Apr;23(4):417-25.全文  摘要

Manto M-U. Clinical signs of cerebellar disorders. In: Manto M-U, Pandolfo M, eds. The cerebellum and its disorders. Cambridge, UK: Cambridge University Press; 2002:97-120.

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