The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference42 articles.
1. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23;Bakalkin;Am J Hum Genet,2010
2. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011
3. Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds;Bauer;J Neurol Neurosurg Psychiatry,2010
4. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;Browne;Nat Genet,1994
5. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): a new phenotype;Brusse;Mov Disord,2006
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