Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
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Early onset torsion dystonia (Oppenheim's dystonia)The early onset dystonia protein torsinA interacts with kinesin light chain 1Torsins: not your typical AAA+ ATPasesLocalization of a gene for myoclonus-dystonia to chromosome 7q21-q31Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.Clinical and Epidemiological Correlates of Task-Specific Dystonia in a Large Cohort of Brazilian Music PlayersIdentification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.The relationship between trauma and idiopathic torsion dystonia.The genetics of idiopathic torsion dystonia.Sex prevalence of focal dystonias.Non-DYT1 dystonia in a large Italian family.Biochemical and cellular analysis of human variants of the DYT1 dystonia protein, TorsinA/TOR1AA major locus for myoclonus-dystonia maps to chromosome 7q in eight families.Diagnosis of dystonic syndromes--a new eight-question approach.Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritanceCervical dystonia in monozygotic twins: case report and review of the literature.Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.Diagnosing Parkinson's disease using videotaped neurological examinations: validity and factors that contribute to incorrect diagnoses.Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.Genetic and clinical features of primary torsion dystonia.Commentary: Dopaminergic dysfunction in DYT1 dystonia.The autosomal dominant dystonias.Inherited isolated dystonia: clinical genetics and gene function.Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystoniaThe DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.Sporadic adult onset dystonia: sensory abnormalities as an endophenotype in unaffected relativesMutations in GNAL cause primary torsion dystonia.Altered sensorimotor activation patterns in idiopathic dystonia-an activation likelihood estimation meta-analysis of functional brain imaging studies.Prevalence and features of unreported dystonia in a family study of "pure" essential tremor.The Frequency of DYT1 (GAG Deletion) Mutation in Primary Dystonia Patients from IranAdult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family.Identifying the genetic components underlying the pathophysiology of movement disorders.Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.Engineering animal models of dystoniaGenotype-phenotype interactions in primary dystonias revealed by differential changes in brain structureMilestones in dystonia.Neuromodulation in dystonia: current aspects of deep brain stimulation.
P2860
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P2860
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
description
1989 nî lūn-bûn
@nan
1989 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@ast
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@en
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@nl
type
label
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@ast
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@en
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@nl
prefLabel
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@ast
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@en
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@nl
P2093
P356
P1433
P1476
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
@en
P2093
Bressman SB
P304
P356
10.1002/ANA.410260505
P50
P577
1989-11-01T00:00:00Z