Spectrin mutations in spinocerebellar ataxia (SCA)
Author:
Publisher
Wiley
Subject
General Biochemistry, Genetics and Molecular Biology
Reference15 articles.
1. Spectrin mutations cause spinocerebellar ataxia type 5
2. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
3. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
4. Clinical and MRI findings in spinocerebellar ataxia type 5
5. Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred
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1. A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2;BMJ Case Reports;2020-12
2. Ca2+ signaling and spinocerebellar ataxia;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2018-11
3. Isatin, an endogenous nonpeptide biofactor: A review of its molecular targets, mechanisms of actions, and their biomedical implications;BioFactors;2018-01-16
4. A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature;The Cerebellum;2017-12-01
5. De novopoint mutations in patients diagnosed with ataxic cerebral palsy;Brain;2015-05-16
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