Literature DB >> 23649788

Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.

Jeremy R B Newman1, Alexander C Lehn, Richard S Boyle, Peter A Silburn, George D Mellick.   

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Year:  2013        PMID： 23649788     DOI： 10.1002/mds.25479

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  3 in total

Review 1.  Understanding the anatomy of dystonia: determinants of penetrance and phenotype.

Authors:  Renata P Lerner; Martin Niethammer; David Eidelberg
Journal:  Curr Neurol Neurosci Rep       Date:  2013-11       Impact factor: 5.081

2.  In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.

Authors:  Alev Richter; Ronja Hollstein; Eva Hebert; Franca Vulinovic; Juliane Eckhold; Alma Osmanovic; Reinhard Depping; Frank J Kaiser; Katja Lohmann
Journal:  J Mol Neurosci       Date:  2017-03-15       Impact factor: 3.444

3.  Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report.

Authors:  Andrea Giorni; Terry Coyne; Peter A Silburn; George D Mellick; Pankaj Sah; François Windels
Journal:  J Med Case Rep       Date:  2022-01-09
  3 in total

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