Literature DB >> 15079037

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

K Hedrich1, 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.   

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Year:  2004        PMID： 15079037     DOI： 10.1212/01.wnl.0000118286.75059.35

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


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  9 in total

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

Authors:  Henry Jordan Grantham; Paul Goldsmith
Journal:  Mov Disord Clin Pract       Date:  2014-10-12

Review 2.  Diagnosis of dystonic syndromes--a new eight-question approach.

Authors:  Kelly L Bertram; David R Williams
Journal:  Nat Rev Neurol       Date:  2012-03-20       Impact factor: 42.937

3.  Alcohol responsiveness in laryngeal dystonia: a survey study.

Authors:  Diana N Kirke; Steven J Frucht; Kristina Simonyan
Journal:  J Neurol       Date:  2015-05-01       Impact factor: 4.849

4.  Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Authors:  Fumiaki Yokoi; Mai T Dang; Guang Yang; Jindong Li; Atbin Doroodchi; Tong Zhou; Yuqing Li
Journal:  Behav Brain Res       Date:  2011-10-21       Impact factor: 3.332

5.  Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

Authors:  Fumiaki Yokoi; Mai T Dang; Tong Zhou; Yuqing Li
Journal:  Hum Mol Genet       Date:  2011-11-11       Impact factor: 6.150

6.  Dilated cardiomyopathy mutations in δ-sarcoglycan exert a dominant-negative effect on cardiac myocyte mechanical stability.

Authors:  Matthew D Campbell; Marc Witcher; Anoop Gopal; Daniel E Michele
Journal:  Am J Physiol Heart Circ Physiol       Date:  2016-03-11       Impact factor: 4.733

7.  Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Authors:  S Tezenas du Montcel; F Clot; M Vidailhet; E Roze; P Damier; C P Jedynak; A Camuzat; A Lagueny; L Vercueil; D Doummar; L Guyant-Maréchal; J-L Houeto; G Ponsot; S Thobois; M-A Cournelle; A Durr; F Durif; B Echenne; D Hannequin; C Tranchant; A Brice
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

8.  Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.

Authors:  Jiao Li; Yiqiong Liu; Qin Li; Xiaolin Huang; Dingxi Zhou; Hanjian Xu; Feng Zhao; Xiaoxiao Mi; Ruoxu Wang; Fan Jia; Fuqiang Xu; Jing Yang; Dong Liu; Xuliang Deng; Yan Zhang
Journal:  Neurosci Bull       Date:  2020-12-23       Impact factor: 5.203

9.  A Japanese family with dystonia due to a pathogenic variant in SGCE.

Authors:  Takuya Morikawa; Shiroh Miura; Luoming Fan; Emina Watanabe; Ryuta Fujioka; Hiromichi Motooka; Shingo Yasumoto; Yusuke Uchiyama; Hiroki Shibata
Journal:  Hum Genome Var       Date:  2022-08-22
  9 in total

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