Spinocerebellar ataxia 14: Novel mutation in exon 2 ofPRKCG in a German family
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference15 articles.
1. , . Spinocerebellar Ataxia Type 14. Gene Reviews 2005. Available at: http://www.geneclinics.org.
2. 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
3. A New Dominant Spinocerebellar Ataxia Linked to Chromosome 19q13.4-qter
4. Missense Mutations in the Regulatory Domain of PKCγ: A New Mechanism for Dominant Nonepisodic Cerebellar Ataxia
5. Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C γ
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1. Gastrointestinal disorders in hyperkinetic movement disorders and ataxia;Parkinsonism & Related Disorders;2021-09
2. Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations;Journal of Neurology;2021-07-22
3. Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder;Annals of Clinical and Translational Neurology;2021-03-19
4. Spinocerebellar ataxia type 14 caused by a nonsense mutation in the PRKCG gene;Molecular and Cellular Neuroscience;2019-07
5. Spinocerebellar ataxias;The Cerebellum: Disorders and Treatment;2018
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