Literature DB >> 14742629

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.

P J Lamont, R L Jacob, F L Mastaglia, N G Laing.   

Abstract

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Year:  2004        PMID： 14742629      PMCID： PMC1738893     

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  4 in total

1.  Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.

Authors:  Rosanna Cardani; Marzia Giagnacovo; Annalisa Botta; Fabrizio Rinaldi; Alessandra Morgante; Bjarne Udd; Olayinka Raheem; Sini Penttilä; Tiina Suominen; Laura V Renna; Valeria Sansone; Enrico Bugiardini; Giuseppe Novelli; Giovanni Meola
Journal:  J Neurol       Date:  2012-03-10       Impact factor: 4.849

2.  High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.

Authors:  T Suominen; B Schoser; O Raheem; S Auvinen; M Walter; R Krahe; H Lochmüller; W Kress; B Udd
Journal:  J Neurol       Date:  2008-09-24       Impact factor: 4.849

Review 3.  Myotonic dystrophy type 2 and related myotonic disorders.

Authors:  Giovanni Meola; Richard T Moxley
Journal:  J Neurol       Date:  2004-10       Impact factor: 4.849

4.  SCN4A as modifier gene in patients with myotonic dystrophy type 2.

Authors:  Anna Binda; Laura V Renna; Francesca Bosè; Elisa Brigonzi; Annalisa Botta; Rea Valaperta; Barbara Fossati; Ilaria Rivolta; Giovanni Meola; Rosanna Cardani
Journal:  Sci Rep       Date:  2018-07-23       Impact factor: 4.379
  4 in total

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