about
Knowledge gaps and research recommendations for essential tremor.A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.Rest tremor revisited: Parkinson's disease and other disorders.Recent developments in dystonia.A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3Recent advances in the genetics of dystonia.A Pilot Study of Botulinum Toxin for Jerky, Position-Specific, Upper Limb Action Tremor.Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.The genetics of the dystonias--a review based on the new classification of the dystonias.Essential pitfalls in "essential" tremor.Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Consensus Statement on the classification of tremors, from the task force on tremor of the International Parkinson and Movement Disorder Society.Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.[Genetics of tremor].Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.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
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@ast
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@en
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@nl
type
label
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@ast
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@en
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@nl
prefLabel
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@ast
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@en
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@nl
P2093
P2860
P50
P356
P1433
P1476
The phenotypic spectrum of DYT24 due to ANO3 mutations.
@en
P2093
Amit Batla
Carla Cordivari
Gavin Charlesworth
Georg Kägi
Henry Houlden
Ignacio Rubio-Agusti
Susanne A Schneider
Una-Marie Sheerin
P2860
P304
P356
10.1002/MDS.25802
P407
P577
2014-01-17T00:00:00Z