Literature DB >> 30363810

Adult-Onset Alcohol Suppressible Cervical Dystonia: A Case Report.

Henry Jordan Grantham1, Paul Goldsmith2.   

Abstract

Entities:  

Keywords:  GCH1; alcohol‐responsive dystonia; dopa‐responsive dystonia; myoclonus dystonia

Year:  2014        PMID： 30363810      PMCID： PMC6183003          DOI： 10.1002/mdc3.12098

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  6 in total

1.  Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.

Authors:  K Hedrich; E-M Meyer; B Schüle; N Kock; P de Carvalho Aguiar; K Wiegers; J H Koelman; J Garrels; R Dürr; L Liu; E Schwinger; L J Ozelius; B Landwehrmeyer; A J Stoessl; M A J Tijssen; C Klein
Journal:  Neurology       Date:  2004-04-13       Impact factor: 9.910

Review 2.  Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

Authors:  N Blau; L Bonafé; B Thöny
Journal:  Mol Genet Metab       Date:  2001 Sep-Oct       Impact factor: 4.797

3.  The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Authors:  Monika Grabowski; Alexander Zimprich; Bettina Lorenz-Depiereux; Vera Kalscheuer; Friedrich Asmus; Thomas Gasser; Thomas Meitinger; Tim M Strom
Journal:  Eur J Hum Genet       Date:  2003-02       Impact factor: 4.246

4.  Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Authors:  V Leuzzi; Ca Carducci; Cl Carducci; F Cardona; C Artiola; I Antonozzi
Journal:  Neurology       Date:  2002-10-22       Impact factor: 9.910

5.  Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

Authors:  I Trender-Gerhard; M G Sweeney; P Schwingenschuh; P Mir; M J Edwards; A Gerhard; J M Polke; M G Hanna; M B Davis; N W Wood; K P Bhatia
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-03-29       Impact factor: 10.154

6.  GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia.

Authors:  Xin Liu; Shu-Shan Zhang; Deng-Fu Fang; Ming-Yi Ma; Xiao-Yan Guo; Yuan Yang; Hui-Fang Shang
Journal:  Mov Disord       Date:  2010-03-15       Impact factor: 10.338
  6 in total
  2 in total

1.  Gait Impairment in Myoclonus-Dystonia (DYT-SGCE).

Authors:  Ghazal Haeri; Gholamali Shahidi; Alfonso Fasano; Mohammad Rohani
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2019-08-02

2.  Alcohol-Responsive Hyperkinetic Movement Disorders-a Mechanistic Hypothesis.

Authors:  Steven J Frucht; Giulietta M Riboldi
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-10-21
  2 in total

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