Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
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Early onset torsion dystonia (Oppenheim's dystonia)Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaRapid-onset dystonia-parkinsonism: linkage to chromosome 19q13Research priorities in spasmodic dysphoniaHeterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.Novel THAP1 sequence variants in primary dystonia.THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.The phenotypic spectrum of DYT24 due to ANO3 mutations.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Cervical dystonia in monozygotic twins: case report and review of the literature.Epidemiology of primary blepharospasm.Genetic and clinical features of primary torsion dystonia.New perspectives on dystonia.The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.Inherited isolated dystonia: clinical genetics and gene function.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.Primary dystonia: molecules and mechanisms.Milestones in dystonia.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Review: genetics and neuropathology of primary pure dystonia.The genetics of dystonia: new twists in an old tale.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland.Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.Cervical dystonia: about familial and sporadic cases in 88 patients.THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.Alcohol with xylocaine for treatment of eyelid dystonia.Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystoniaOnset and progression of primary torsion dystonia in sporadic and familial cases
P2860
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P2860
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@ast
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@en
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@nl
type
label
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@ast
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@en
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@nl
prefLabel
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@ast
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@en
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@nl
P2093
P356
P1433
P1476
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
@en
P2093
Bressman SB
Chouinard S
P304
P356
10.1002/ANA.410420421
P50
P577
1997-10-01T00:00:00Z