Literature DB >> 14509662

Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12.

Laurie J Ozelius1.   

Abstract

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Year:  2004        PMID： 14509662

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


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  3 in total

1.  A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

Authors:  Vincent Procaccio; Gloria Salazar; Shoichiro Ono; Melanie L Styers; Marla Gearing; Antonio Davila; Richard Jimenez; Jorge Juncos; Claire-Anne Gutekunst; Germana Meroni; Bianca Fontanella; Estelle Sontag; Jean Marie Sontag; Victor Faundez; Bruce H Wainer
Journal:  Am J Hum Genet       Date:  2006-04-21       Impact factor: 11.025

2.  Novel THAP1 sequence variants in primary dystonia.

Authors:  J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux
Journal:  Neurology       Date:  2010-01-19       Impact factor: 9.910

3.  THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Authors:  H Houlden; S A Schneider; R Paudel; A Melchers; P Schwingenschuh; M Edwards; J Hardy; K P Bhatia
Journal:  Neurology       Date:  2010-03-09       Impact factor: 9.910
  3 in total

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