Literature DB >> 15852391

Torsin A haplotype predisposes to idiopathic dystonia.

Jordi Clarimon1, Hilmir Asgeirsson, Andrew Singleton, Finnbogi Jakobsson, Haukur Hjaltason, John Hardy, Sigurlaug Sveinbjornsdottir.   

Abstract

Previous work has suggested that in many neurological diseases genetic variability in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sporadic disease. Here, using a population-based sample of dystonia cases, we show an association with the torsin A haplotype and sporadic idiopathic dystonia.

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Year:  2005        PMID: 15852391     DOI: 10.1002/ana.20485

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  21 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

Review 2.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 3.  Primary dystonia: molecules and mechanisms.

Authors:  Lauren M Tanabe; Connie E Kim; Noga Alagem; William T Dauer
Journal:  Nat Rev Neurol       Date:  2009-10-13       Impact factor: 42.937

4.  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

5.  Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.

Authors:  Gary A Heiman; Ruth Ottman; Rachel J Saunders-Pullman; Laurie J Ozelius; Neil J Risch; Susan B Bressman
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2007-04-05       Impact factor: 3.568

Review 6.  Genetics of primary torsion dystonia.

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

7.  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

8.  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

9.  Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.

Authors:  Lisa M Giles; Lian Li; Lih-Shen Chin
Journal:  J Biol Chem       Date:  2009-06-17       Impact factor: 5.157

Review 10.  Experimental therapeutics for dystonia.

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

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