Literature DB >> 19380705

The D216H variant in the DYT1 gene: a susceptibility factor for dystonia in familial cases?

N Brüggemann1, N Kock, K Lohmann, I R König, A Rakovic, J Hagenah, A Schmidt, A Ziegler, H C Jabusch, H Siebner, E Altenmüller, A Münchau, C Klein.   

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Year:  2009        PMID： 19380705     DOI： 10.1212/WNL.0b013e3181a1861e

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


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  9 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

3.  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 4.  Genetics of primary torsion dystonia.

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

5.  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

6.  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 7.  The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis.

Authors:  Vasileios Siokas; Efthimios Dardiotis; Evangelia E Tsironi; Georgios Tsivgoulis; Dimitrios Rikos; Maria Sokratous; Stylianos Koutsias; Konstantinos Paterakis; Georgia Deretzi; Georgios M Hadjigeorgiou
Journal:  PLoS One       Date:  2017-01-12       Impact factor: 3.240

Review 8.  The genetics of dystonia: new twists in an old tale.

Authors:  Gavin Charlesworth; Kailash P Bhatia; Nicholas W Wood
Journal:  Brain       Date:  2013-06-17       Impact factor: 13.501

Review 9.  Risk Factor Genes in Patients with Dystonia: A Comprehensive Review.

Authors:  Vasileios Siokas; Athina-Maria Aloizou; Zisis Tsouris; Amalia Michalopoulou; Alexios-Fotios A Mentis; Efthimios Dardiotis
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-01-09
  9 in total

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