Literature DB >> 3400517

Hereditary torsion dystonia in gypsies.

S Giménez-Roldán1, G Delgado, M Marín, J A Villanueva, D Mateo.   

Abstract

Entities:  

Mesh：

Year:  1988        PMID： 3400517

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


× No keyword cloud information.
  13 in total

Review 1.  The genetics of idiopathic torsion dystonia.

Authors:  N A Fletcher
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 2.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

Review 3.  The dystonias.

Authors:  P R Jarman; T T Warner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 4.  The genetics of primary torsion dystonia.

Authors:  U Müller; K G Kupke
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

5.  A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.

Authors:  E Chouery; J Kfoury; V Delague; N Jalkh; P Bejjani; J L Serre; A Mégarbané
Journal:  Neurogenetics       Date:  2008-08-08       Impact factor: 2.660

Review 6.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

7.  Identification 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.

Authors:  D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

8.  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

Review 9.  Update on pediatric dystonias: etiology, epidemiology, and management.

Authors:  Emilio Fernández-Alvarez; Nardo Nardocci
Journal:  Degener Neurol Neuromuscul Dis       Date:  2012-04-11

10.  Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Authors:  Michael Zech; Daniel D Lam; Ludmila Francescatto; Barbara Schormair; Aaro V Salminen; Angela Jochim; Thomas Wieland; Peter Lichtner; Annette Peters; Christian Gieger; Hanns Lochmüller; Tim M Strom; Bernhard Haslinger; Nicholas Katsanis; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.