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Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.

Cerebellum (London, England) - 1 Dec 2017

Szpisjak Laszlo, Nemeth Viola L, Szepfalusi Noemi, Zadori Denes, Maroti Zoltan, Kalmar Tibor, Vecsei Laszlo, Klivenyi Peter

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ATP-Dependent Proteases
ATPases Associated with Diverse Cellular Activities
Brain
Cognition
Family
Mutation, Missense
Pilot Projects

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spinocerebellar Ataxias

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PMID: 28660440
DOI: 10.1007/s12311-017-0870-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.PMID 28660440Read ↗

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OVERWHELMING GENETIC HETEROGENEITY AND EXHAUSTING MOLECULAR DIAGNOSTIC PROCESS IN CHRONIC AND PROGRESSIVE ATAXIAS: <i>FACING IT UP WITH AN ALGORITHM, A GENE, A PANEL AT A TIME</i>Semantic proximity Read ↗

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

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