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Article

Screening of mutations in GNAL in sporadic dystonia patients.

Movement disorders : official journal of the Movement Disorder Society - 1 Aug 2014

Dufke Claudia, Sturm Marc, Schroeder Christopher, Moll Susanne, Ott Thomas, Riess Olaf, Bauer Peter, Grundmann Kathrin

Abstract excerpt

BACKGROUND: GNAL mutations have been shown to cause adult-onset isolated dystonia, a disabling movement disorder characterized by involuntary muscle contractions causing twisting and repetitive movements or abnormal postures. METHODS: To test the frequency of GNAL mutations in a series of 137 German patients with sporadic dystonia patients we used next-generation sequencing of amplicon-derived barcoded NexteraXT...

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Source

Identifiers

PMID: 24408567
DOI: 10.1002/mds.25794

Genes

GNAL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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Screening of mutations in GNAL in sporadic dystonia patients.PMID 24408567Read ↗

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Novel GNAL mutations in two German patients with sporadic dystonia.Semantic proximity Read ↗

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Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.Semantic proximity Read ↗

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