Literature DB >> 32626811

Reply to: Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity.

Martje G Pauly1,2, Sinem Tunc1,2,3, Tobias Bäumer2, Gabriele Gillessen-Kaesbach4, Alexander Münchau2.   

Abstract

Entities:  

Keywords:  CLCN1; POLG; myoclonus; myotonia congenita Thomsen

Year:  2020        PMID： 32626811      PMCID： PMC7328426          DOI： 10.1002/mdc3.12961

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


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  2 in total

1.  "Twitching" and Stiffness in POLG1 Mutation Carriers: Red Flag or Red Herring?

Authors:  Martje G Pauly; Sinem Tunc; Tobias Bäumer; Gabriele Gillessen-Kaesbach; Alexander Münchau
Journal:  Mov Disord Clin Pract       Date:  2019-11-12

2.  The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Authors:  Grete Andersen; Gitte Hedermann; Nanna Witting; Morten Duno; Henning Andersen; John Vissing
Journal:  Brain       Date:  2017-09-01       Impact factor: 13.501
  2 in total

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