NovelPRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference9 articles.
1. Recent advances in hereditary spinocerebellar ataxias;van de Warrenburg;J Neuropathol Exp Neurol,2005
2. Missense mutations in the regulatory domain of PKCgamma: a new mechanism for dominant nonepisodic cerebellar ataxia;Chen;Am J Hum Genet,2003
3. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family;van de Warrenburg;Neurology,2003
4. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma;Yabe;Arch Neurol,2003
5. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter;Yamashita;Ann Neurol,2000
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2. Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition;Science Signaling;2022-09-27
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