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Article

A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.

Journal of the neurological sciences - 15 Nov 2015

Qu Jane, Wu Connie K, Zuzuárregui José Rafael P, Hohler Anna D

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PMID: 26454370
DOI: 10.1016/j.jns.2015.10.003

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A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.PMID 26454370Read ↗

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.Semantic proximity Read ↗

A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.Semantic proximity Read ↗

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.Semantic proximity Read ↗

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.Semantic proximity Read ↗

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.Semantic proximity Read ↗

Spinocerebellar ataxia type 28 in a Chinese pedigree: A case report and literature review.Semantic proximity Read ↗

Spinocerebellar Ataxia Type 28 in a Chinese Pedigree: A Case Report and Literature ReviewSemantic proximity Read ↗

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.Semantic proximity Read ↗

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.Semantic proximity Read ↗

Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.Semantic proximity Read ↗

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriersSemantic proximity Read ↗

Compound heterozygous mutation of AFG3L2 causes autosomal recessive spinocerebellar ataxia through mitochondrial impairment and MICU1 mediated Ca2+ overload.Semantic proximity Read ↗

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