Literature DB >> 14509663

Inherited myoclonus-dystonia.

Friedrich Asmus1, Thomas Gasser.   

Abstract

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Year:  2004        PMID： 14509663

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


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  16 in total

Review 1.  [Parasomnia and paroxysmal dyskinesia].

Authors:  J Rémi; K Bötzel
Journal:  Nervenarzt       Date:  2017-10       Impact factor: 1.214

2.  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

3.  Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Authors:  Kristoffer Haugarvoll; Charalampos Tzoulis; Gia T Tran; Bjørn Karlsen; Bernt A Engelsen; Per M Knappskog; Laurence A Bindoff
Journal:  J Neurol       Date:  2013-12-03       Impact factor: 4.849

Review 4.  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

5.  Reduced striatal D2 receptor binding in myoclonus-dystonia.

Authors:  R J Beukers; J Booij; N Weisscher; F Zijlstra; T A M J van Amelsvoort; M A J Tijssen
Journal:  Eur J Nucl Med Mol Imaging       Date:  2008-08-22       Impact factor: 9.236

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.  A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

Authors:  Niccolo E Mencacci; Ignacio Rubio-Agusti; Anselm Zdebik; Friedrich Asmus; Marthe H R Ludtmann; Mina Ryten; Vincent Plagnol; Ann-Kathrin Hauser; Sara Bandres-Ciga; Conceição Bettencourt; Paola Forabosco; Deborah Hughes; Marc M P Soutar; Kathryn Peall; Huw R Morris; Daniah Trabzuni; Mehmet Tekman; Horia C Stanescu; Robert Kleta; Miryam Carecchio; Giovanna Zorzi; Nardo Nardocci; Barbara Garavaglia; Ebba Lohmann; Anne Weissbach; Christine Klein; John Hardy; Alan M Pittman; Thomas Foltynie; Andrey Y Abramov; Thomas Gasser; Kailash P Bhatia; Nicholas W Wood
Journal:  Am J Hum Genet       Date:  2015-05-14       Impact factor: 11.025

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.  SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

Authors:  Kathryn J Peall; Manju A Kurian; Mark Wardle; Adrian J Waite; Tammy Hedderly; Jean-Pierre Lin; Martin Smith; Alan Whone; Hardev Pall; Cathy White; Andrew Lux; Philip E Jardine; Bryan Lynch; George Kirov; Sean O'Riordan; Michael Samuel; Timothy Lynch; Mary D King; Patrick F Chinnery; Thomas T Warner; Derek J Blake; Michael J Owen; Huw R Morris
Journal:  J Neurol       Date:  2014-09-11       Impact factor: 4.849

Review 10.  THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.

Authors:  Georgia Xiromerisiou; Henry Houlden; Nikolaos Scarmeas; Maria Stamelou; Eleanna Kara; John Hardy; Andrew J Lees; Prasad Korlipara; Patricia Limousin; Reema Paudel; Georgios M Hadjigeorgiou; Kailash P Bhatia
Journal:  Mov Disord       Date:  2012-08-17       Impact factor: 10.338
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