Literature DB >> 2404852

The genetics of primary torsion dystonia.

U Müller1, K G Kupke.   

Abstract

Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.

Entities:  

Mesh:

Year:  1990        PMID: 2404852     DOI: 10.1007/bf00208922

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  98 in total

1.  Hereditary torsion dystonia in gypsies.

Authors:  S Giménez-Roldán; G Delgado; M Marín; J A Villanueva; D Mateo
Journal:  Adv Neurol       Date:  1988

2.  Delayed onset dystonia following hemiplegic migraine.

Authors:  J A Obeso; E M Martinez Vila; G Delgado; J Vaamonde; E Maravi; J M Martinez Lage
Journal:  Headache       Date:  1984-09       Impact factor: 5.887

3.  Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.

Authors:  X O Breakefield; S B Bressman; P L Kramer; L Ozelius; C Moskowitz; R Tanzi; M F Brin; W Hobbs; D Kaufman; A Tobin
Journal:  J Neurogenet       Date:  1986-05       Impact factor: 1.250

4.  Progressive dystonia with marked diurnal fluctuation.

Authors:  R A Ouvrier
Journal:  Ann Neurol       Date:  1978-11       Impact factor: 10.422

5.  Dopamine-beta-hydroxylase (DBH) in idiopathic torsion dystonia (ITD).

Authors:  A D Korczyn; R Rabinowitz; E Kahana; M Streifler; R Carasso; M Alter
Journal:  J Neurol Sci       Date:  1982-01       Impact factor: 3.181

6.  Dystonia--L-dopa responsive or juvenile parkinsonism?

Authors:  P Rondot; M Ziegler
Journal:  J Neural Transm Suppl       Date:  1983

7.  Hemi-dystonia secondary to localised basal ganglia tumour.

Authors:  J Narbona; J A Obeso; T Tuñon; J M Martinez-Lage; C D Marsden
Journal:  J Neurol Neurosurg Psychiatry       Date:  1984-07       Impact factor: 10.154

8.  Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease.

Authors:  M Segawa; Y Nomura; M Kase
Journal:  Adv Neurol       Date:  1987

9.  Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes.

Authors:  J W Lance
Journal:  Ann Neurol       Date:  1977-10       Impact factor: 10.422

10.  Familial dystonia and visual failure with striatal CT lucencies.

Authors:  C D Marsden; A E Lang; N P Quinn; W I McDonald; A Abdallat; S Nimri
Journal:  J Neurol Neurosurg Psychiatry       Date:  1986-05       Impact factor: 10.154

View more
  6 in total

1.  Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors:  K G Kupke; M B Graeber; U Müller
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

2.  Striatal volume differences between non-human and human primates.

Authors:  Dali Yin; Francisco E Valles; Massimo S Fiandaca; John Forsayeth; Paul Larson; Phillip Starr; Krystof S Bankiewicz
Journal:  J Neurosci Methods       Date:  2008-09-02       Impact factor: 2.390

Review 3.  Neurogenetic diseases: molecular diagnosis and therapeutic approaches.

Authors:  U Muller; M B Graeber
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599

4.  Delineation of the dystonia-parkinsonism syndrome locus in Xq13.

Authors:  M B Graeber; K G Kupke; U Müller
Journal:  Proc Natl Acad Sci U S A       Date:  1992-09-01       Impact factor: 11.205

5.  Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Authors:  L J Ozelius; P L Kramer; D de Leon; N Risch; S B Bressman; D E Schuback; M F Brin; D J Kwiatkowski; R E Burke; J F Gusella
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

6.  Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

Authors:  D J Kwiatkowski; L Ozelius; P L Kramer; S Perman; D E Schuback; J F Gusella; S Fahn; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.