Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
about
Oxidative Stress in Neurodegenerative DiseasesA novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.Monoamine reuptake inhibitors in Parkinson's disease.Recent developments in dystonia.Recent advances in the genetics of dystonia.GNAL mutation in isolated laryngeal dystonia.Next generation sequencing and the future of genetic diagnosis.Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.Update on the Genetics of Dystonia.Mouse model of rare TOR1A variant found in sporadic focal dystonia impairs domains affected in DYT1 dystonia patients and animal modelsDYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.Novel GNAL mutations in two German patients with sporadic dystonia.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.[Genetics of tremor].TOR1A, THAP1, and GNAL mutational screening in Austrian patients with primary isolated dystonia.The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27).Youngest presenting patient with dystonia 24 and review of the literature
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P2860
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls.
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
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2013年學術文章
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2013年學術文章
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name
Rare sequence variants in ANO3 ...... dystonia series and controls.
@en
Rare sequence variants in ANO3 ...... dystonia series and controls.
@nl
type
label
Rare sequence variants in ANO3 ...... dystonia series and controls.
@en
Rare sequence variants in ANO3 ...... dystonia series and controls.
@nl
prefLabel
Rare sequence variants in ANO3 ...... dystonia series and controls.
@en
Rare sequence variants in ANO3 ...... dystonia series and controls.
@nl
P2093
P2860
P50
P356
P1433
P1476
Rare sequence variants in ANO3 ...... dystonia series and controls.
@en
P2093
Angela Jochim
Bernhard Haslinger
Christian Dresel
Florian Castrop
Maria Kaffe
Michael Zech
Nadine Gross
P2860
P304
P356
10.1002/MDS.25715
P407
P577
2013-10-22T00:00:00Z