Literature DB >> 36175785

Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.

E Merico1, E Schirinzi2, F Baldinotti3, A Govoni2, G Siciliano2.   

Abstract

Entities:  

Year:  2022        PMID： 36175785     DOI： 10.1007/s13760-022-02093-x

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


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  5 in total

1.  [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].

Authors:  Xiao-hui Qiao; Yue-xing Li; Xing-zhi Chang; Xing-hua Luan; Bin Chen; Ding-fang Bu; Yun Yuan
Journal:  Zhonghua Yi Xue Za Zhi       Date:  2009-12-22

2.  Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.

Authors:  György Máté Milley; Edina Timea Varga; Zoltán Grosz; Csilla Nemes; Zsuzsanna Arányi; Judit Boczán; Péter Diószeghy; Mária Judit Molnár; Anikó Gál
Journal:  Neuromuscul Disord       Date:  2017-09-08       Impact factor: 4.296

Review 3.  X-linked Charcot-Marie-Tooth disease.

Authors:  Steven S Scherer; Kleopas A Kleopa
Journal:  J Peripher Nerv Syst       Date:  2012-12       Impact factor: 3.494

4.  Phenotype expression in women with CMT1X.

Authors:  Carly E Siskind; Sinéad M Murphy; Richard Ovens; James Polke; Mary M Reilly; Michael E Shy
Journal:  J Peripher Nerv Syst       Date:  2011-06       Impact factor: 3.494

5.  Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Authors:  Francis B Panosyan; Matilde Laura; Alexander M Rossor; Chiara Pisciotta; Giuseppe Piscosquito; Joshua Burns; Jun Li; Sabrina W Yum; Richard A Lewis; John Day; Rita Horvath; David N Herrmann; Michael E Shy; Davide Pareyson; Mary M Reilly; Steven S Scherer
Journal:  Neurology       Date:  2017-08-02       Impact factor: 9.910
  5 in total

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