Autosomal dominant cerebellar ataxias
- 31 May 2011
- journal article
- review article
- Published by Elsevier BV in Revue Neurologique
- Vol. 167 (5), 385-400
- https://doi.org/10.1016/j.neurol.2011.01.015
Abstract
No abstract availableKeywords
This publication has 100 references indexed in Scilit:
- Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyondThe Lancet Neurology, 2010
- Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japanneurogenetics, 2010
- Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutationEuropean Journal of Human Genetics, 2010
- Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia seriesMovement Disorders, 2010
- Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxiasEuropean Journal of Human Genetics, 2010
- EMQN Best Practice Guidelines for molecular genetic testing of SCAsEuropean Journal of Human Genetics, 2010
- KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsHuman Mutation, 2009
- Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)nAmerican Journal of Human Genetics, 2009
- Emerging pathogenic pathways in the spinocerebellar ataxiasCurrent Opinion in Genetics & Development, 2009
- FGF14 regulates the intrinsic excitability of cerebellar Purkinje neuronsNeurobiology of Disease, 2009