Literature DB >> 17394247

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Eun Joo Chung, Won Yong Lee, Ji-Youn Kim, Jong-Hun Kim, Gyeong-Moon Kim, Chang Seok Ki, In-Suk Kim.   

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Year:  2007        PMID： 17394247     DOI： 10.1002/mds.21093

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


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  6 in total

1.  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 2.  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

3.  An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus.

Authors:  Akinori Uruha; Katsuo Kimura; Ryoichi Okiyama
Journal:  Case Rep Neurol Med       Date:  2014-02-09

4.  SGCE mutations cause psychiatric disorders: clinical and genetic characterization.

Authors:  Kathryn J Peall; Daniel J Smith; Manju A Kurian; Mark Wardle; Adrian J Waite; Tammy Hedderly; Jean-Pierre Lin; Martin Smith; Alan Whone; Hardev Pall; Cathy White; Andrew Lux; Philip Jardine; Narinder Bajaj; 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:  Brain       Date:  2013-01       Impact factor: 13.501

5.  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

6.  Population Prevalence of Deleterious SGCE Variants.

Authors:  Mark S LeDoux
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2020-11-04
  6 in total

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