Literature DB >> 9750929

Inherited myoclonus-dystonia syndrome.

T Gasser1.   

Abstract

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Year:  1998        PMID： 9750929

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  10 in total

1.  A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

Authors:  C Klein; K Schilling; R J Saunders-Pullman; J Garrels; X O Breakefield; M F Brin; D deLeon; D Doheny; S Fahn; J S Fink; L Forsgren; J Friedman; S Frucht; J Harris; G Holmgren; B Kis; R Kurlan; M Kyllerman; A E Lang; J Leung; D Raymond; J D Robishaw; G Sanner; E Schwinger; R E Tabamo; M Tagliati
Journal:  Am J Hum Genet       Date:  2000-10-05       Impact factor: 11.025

2.  Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Authors:  C Klein; M F Brin; P Kramer; M Sena-Esteves; D de Leon; D Doheny; S Bressman; S Fahn; X O Breakefield; L J Ozelius
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

3.  Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.

Authors:  Birgitt Müller; Katja Hedrich; Norman Kock; Natasa Dragasevic; Marina Svetel; Jennifer Garrels; Olfert Landt; Matthias Nitschke; Peter P Pramstaller; Wolf Reik; Eberhard Schwinger; Jürgen Sperner; Laurie Ozelius; Vladimir Kostic; Christine Klein
Journal:  Am J Hum Genet       Date:  2002-11-20       Impact factor: 11.025

Review 4.  Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.

Authors:  Victor S C Fung; H A Jinnah; Kailash Bhatia; Marie Vidailhet
Journal:  Mov Disord       Date:  2013-06-15       Impact factor: 10.338

Review 5.  Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Authors:  Laila Rachad; Nadia El Kadmiri; Ilham Slassi; Hicham El Otmani; Sellama Nadifi
Journal:  Mol Neurobiol       Date:  2016-01-20       Impact factor: 5.590

6.  A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family.

Authors:  Hailiang Yan; Xiaoting Guan; Luning Wang; Jiping Tan; Guihong Wang; Yuan An; Yan Zhang
Journal:  Int J Clin Exp Med       Date:  2013-04-12

7.  Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study.

Authors:  Rodi Zutt; Joke M Dijk; Kathryn J Peall; Hans Speelman; Yasmine E M Dreissen; Maria Fiorella Contarino; Marina A J Tijssen
Journal:  Front Neurol       Date:  2016-05-13       Impact factor: 4.003

8.  Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation.

Authors:  Ritesh A Ramdhani; Steven J Frucht; Anousheh Behnegar; Brian H Kopell
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2016-03-09

9.  Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.

Authors:  Takafumi Hasegawa; Tatsuhiko Hosaka; Ryuhei Harada; Ichiro Kawahata; Kyoko Hoshino; Naoto Sugeno; Akio Kikuchi; Masashi Aoki
Journal:  F1000Res       Date:  2021-05-07

10.  Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.

Authors:  Anna Kutschenko; Selma Staege; Karen Grütz; Hannes Glaß; Norman Kalmbach; Thomas Gschwendtberger; Lisa M Henkel; Johanne Heine; Anne Grünewald; Andreas Hermann; Philip Seibler; Florian Wegner
Journal:  Int J Mol Sci       Date:  2021-03-30       Impact factor: 5.923
  10 in total

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