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G2Cdb::Human Disease Report
| Disease id | D00000185 | | Name | Cerebellar ataxia (autosomal dominant) | | Nervous system disease | Yes | | Genes | | Literature
(2 items) | | human disease | Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, van de Warrenburg BP
Mov Disord. 2006;21;1025-8. PMID: 16547918 DOI: 10.1002/mds.20851
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| | Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ
Neurology. 2003;61;1760-5. PMID: 14694043
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