Literature DB >> 30713879

Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea.

Martje E van Egmond1, Anouk Kuiper1, Jan Willem J Elting1, Oebele F Brouwer1, Tom J de Koning2,3, Marina A J Tijssen1.   

Abstract

Entities:  

Keywords:  Cortical reflex myoclonus; GOSR2; chorea

Year:  2015        PMID： 30713879      PMCID： PMC6353358          DOI： 10.1002/mdc3.12136

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


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  7 in total

1.  Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

Authors:  Martje E van Egmond; Corien C Verschuuren-Bemelmans; Esther A Nibbeling; Jan Willem J Elting; Deborah A Sival; Oebele F Brouwer; Jeroen J de Vries; Hubertus P Kremer; Richard J Sinke; Marina A Tijssen; Tom J de Koning
Journal:  Mov Disord       Date:  2013-10-30       Impact factor: 10.338

2.  A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa.

Authors:  F Asmus; V Horber; J Pohlenz; D Schwabe; A Zimprich; M Munz; M Schöning; T Gasser
Journal:  Neurology       Date:  2005-06-14       Impact factor: 9.910

3.  A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Authors:  Mark A Corbett; Michael Schwake; Melanie Bahlo; Leanne M Dibbens; Meng Lin; Luke C Gandolfo; Danya F Vears; John D O'Sullivan; Thomas Robertson; Marta A Bayly; Alison E Gardner; Annemarie M Vlaar; G Christoph Korenke; Bastiaan R Bloem; Irenaeus F de Coo; Judith M A Verhagen; Anna-Elina Lehesjoki; Jozef Gecz; Samuel F Berkovic
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

4.  Benign hereditary chorea--entity or syndrome?

Authors:  A Schrag; N P Quinn; K P Bhatia; C D Marsden
Journal:  Mov Disord       Date:  2000-03       Impact factor: 10.338

5.  'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

Authors:  Lysa Boissé Lomax; Marta A Bayly; Helle Hjalgrim; Rikke S Møller; Annemarie M Vlaar; Kari M Aaberg; Iris Marquardt; Luke C Gandolfo; Michèl Willemsen; Erik-Jan Kamsteeg; John D O'Sullivan; G Christoph Korenke; Bastiaan R Bloem; Irenaeus F de Coo; Judith M A Verhagen; Ines Said; Trine Prescott; Asbjørg Stray-Pedersen; Magnhild Rasmussen; Danya F Vears; Anna-Elina Lehesjoki; Mark A Corbett; Melanie Bahlo; Jozef Gecz; Leanne M Dibbens; Samuel F Berkovic
Journal:  Brain       Date:  2013-02-28       Impact factor: 13.501

Review 6.  Benign hereditary chorea revisited: a journey to understanding.

Authors:  Galit Kleiner-Fisman; Anthony E Lang
Journal:  Mov Disord       Date:  2007-12       Impact factor: 10.338

Review 7.  Acute and chronic chorea in childhood.

Authors:  Donald L Gilbert
Journal:  Semin Pediatr Neurol       Date:  2009-06       Impact factor: 1.636
  7 in total

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