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Article

Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A Gene

16 Oct 2011

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22000314
DOI: 10.1016/j.pediatrneurol.2011.08.002

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Related research

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Early-Onset Cerebellar Atrophy Associated With Mutation in the CACNA1A GenePMID 22000314Read ↗

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A geneSemantic proximity Read ↗

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G MutationsSemantic proximity Read ↗

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A geneSemantic proximity Read ↗

Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxiaSemantic proximity Read ↗

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.Semantic proximity Read ↗

Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.Semantic proximity Read ↗

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.Semantic proximity Read ↗

Rare CACNA1A mutations leading to congenital ataxia.Semantic proximity Read ↗

Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.Semantic proximity Read ↗

A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.Semantic proximity Read ↗

A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.Semantic proximity Read ↗

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia.Semantic proximity Read ↗

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