Literature DB >> 17130424

Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia.

C Kamm1, F Asmus, J Mueller, P Mayer, M Sharma, U J Muller, S Beckert, R Ehling, T Illig, H E Wichmann, W Poewe, J C Mueller, T Gasser.   

Abstract

Recently, association of a TOR1A(DYT1)/TOR1B risk haplotype with common forms of idiopathic dystonia has been reported in the Icelandic population. Here we report a strong association of two single nucleotide polymorphisms within or in close proximity to the TOR1A 3'UTR, with the lowest p value being 0.000008, in a larger cohort of German and Austrian patients with predominantly focal sporadic dystonia.

Entities:  

Mesh：

Substances：

Year:  2006        PMID： 17130424     DOI： 10.1212/01.wnl.0000244423.63406.17

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  17 in total

Review 1.  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

2.  Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.

Authors:  Subhajit Giri; Arunibha Ghosh; Shubhrajit Roy; Charulata Savant Sankhla; Shyamal Kumar Das; Kunal Ray; Jharna Ray
Journal:  J Mol Neurosci       Date:  2020-07-13       Impact factor: 3.444

Review 3.  Genetics of primary torsion dystonia.

Authors:  Norbert Brüggemann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

4.  Chemical enhancement of torsinA function in cell and animal models of torsion dystonia.

Authors:  Songsong Cao; Jeffrey W Hewett; Fumiaki Yokoi; Jun Lu; Amber Clark Buckley; Alexander J Burdette; Pan Chen; Flavia C Nery; Yuqing Li; Xandra O Breakefield; Guy A Caldwell; Kim A Caldwell
Journal:  Dis Model Mech       Date:  2010-03-11       Impact factor: 5.758

5.  An examination of TOR1A variants in recurrent major depression.

Authors:  F Heining; B Langguth; P Eichhammer; Domani M; Hajak G; P G Sand
Journal:  Int J Mol Epidemiol Genet       Date:  2012-02-28

6.  Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.

Authors:  Nutan Sharma; Ramon A Franco; John K Kuster; Adele A Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F Brin; Andrew Blitzer; Susan B Bressman; Laurie J Ozelius
Journal:  Mov Disord       Date:  2010-10-15       Impact factor: 10.338

7.  Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Authors:  Nicole Calakos; Viren D Patel; Melissa Gottron; Gaofeng Wang; Khan-Nhat Tran-Viet; Danielle Brewington; John L Beyer; David C Steffens; Ranga R Krishnan; Stephan Züchner
Journal:  J Med Genet       Date:  2009-12-02       Impact factor: 6.318

Review 8.  Experimental therapeutics for dystonia.

Authors:  H A Jinnah; Ellen J Hess
Journal:  Neurotherapeutics       Date:  2008-04       Impact factor: 7.620

9.  Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

Authors:  Neil J Risch; Susan B Bressman; Geetha Senthil; Laurie J Ozelius
Journal:  Am J Hum Genet       Date:  2007-04-27       Impact factor: 11.025

10.  The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm.

Authors:  Giovanni Defazio; Mar Matarin; Elizabeth L Peckham; Davide Martino; Enza M Valente; Andrew Singleton; Anthony Crawley; Maria Stella Aniello; Francesco Brancati; Giovanni Abbruzzese; Paolo Girlanda; Paolo Livrea; Mark Hallett; Alfredo Berardelli
Journal:  Mov Disord       Date:  2009-03-15       Impact factor: 10.338
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.