Literature DB >> 21267590

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.

Christian Johannes Hartmann, Barbara Leube, Lars Wojtecki, Beate Betz, Stefan Jun Groiss, Peter Bauer, Alfons Schnitzler, Martin Südmeyer.   

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Year:  2011        PMID： 21267590     DOI： 10.1007/s00415-011-5911-6

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  Myoclonus-dystonia: significance of large SGCE deletions.

Authors:  A Grünewald; A Djarmati; K Lohmann-Hedrich; K Farrell; J A Zeller; N Allert; F Papengut; B Petersen; V Fung; C M Sue; D O'Sullivan; N Mahant; A Kupsch; R S Chuang; K Wiegers; H Pawlack; J Hagenah; L J Ozelius; U Stephani; R Schuit; A E Lang; J Volkmann; A Münchau; C Klein
Journal:  Hum Mutat       Date:  2008-02       Impact factor: 4.878

2.  Myoclonus-dystonia due to maternal uniparental disomy.

Authors:  Emilie Guettard; Marie-France Portnoi; Katja Lohmann-Hedrich; Boris Keren; Sylvie Rossignol; Susen Winkler; Imen El Kamel; Smaranda Leu; Emmanuelle Apartis; Marie Vidailhet; Christine Klein; Emmanuel Roze
Journal:  Arch Neurol       Date:  2008-10

Review 3.  Essential myoclonus and myoclonic dystonia.

Authors:  N P Quinn
Journal:  Mov Disord       Date:  1996-03       Impact factor: 10.338

Review 4.  Myoclonus-dystonia: an update.

Authors:  Kiyoka Kinugawa; Marie Vidailhet; Fabienne Clot; Emmanuelle Apartis; David Grabli; Emmanuel Roze
Journal:  Mov Disord       Date:  2009-03-15       Impact factor: 10.338

5.  The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Authors:  Monika Grabowski; Alexander Zimprich; Bettina Lorenz-Depiereux; Vera Kalscheuer; Friedrich Asmus; Thomas Gasser; Thomas Meitinger; Tim M Strom
Journal:  Eur J Hum Genet       Date:  2003-02       Impact factor: 4.246

6.  SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.

Authors:  Christopher T Esapa; Adrian Waite; Matthew Locke; Matthew A Benson; Michaela Kraus; R A Jeffrey McIlhinney; Roy V Sillitoe; Philip W Beesley; Derek J Blake
Journal:  Hum Mol Genet       Date:  2007-01-02       Impact factor: 6.150

7.  Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy.

Authors:  E M McNally; D Duggan; J R Gorospe; C G Bönnemann; M Fanin; E Pegoraro; H G Lidov; S Noguchi; E Ozawa; R S Finkel; R P Cruse; C Angelini; L M Kunkel; E P Hoffman
Journal:  Hum Mol Genet       Date:  1996-11       Impact factor: 6.150
  7 in total
  1 in total

1.  Myoclonus-dystonia syndrome: case report.

Authors:  Emel Oguz Akarsu; Reyhan Surmeli; Destina Yalcin
Journal:  North Clin Istanb       Date:  2015-01-24
  1 in total

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