Literature DB >> 29695755

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

David J Coote1, Mark R Davis2, Macarena Cabrera3, Merrilee Needham4, Nigel G Laing1,2, Kristen J Nowak5,6,7.   

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Year:  2018        PMID： 29695755      PMCID： PMC6018704          DOI： 10.1038/s41431-017-0065-3

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

1.  Block of persistent late Na+ currents by antidepressant sertraline and paroxetine.

Authors:  Ging Kuo Wang; Jane Mitchell; Sho-Ya Wang
Journal:  J Membr Biol       Date:  2008-04-17       Impact factor: 1.843

2.  The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.

Authors:  S Wagner; F Deymeer; L L Kürz; S Benz; L Schleithoff; F Lehmann-Horn; P Serdaroğlu; C Ozdemir; R Rüdel
Journal:  Muscle Nerve       Date:  1998-09       Impact factor: 3.217

3.  Founder mutations and the high prevalence of myotonia congenita in northern Finland.

Authors:  H Papponen; T Toppinen; P Baumann; V Myllylä; J Leisti; H Kuivaniemi; G Tromp; R Myllylä
Journal:  Neurology       Date:  1999-07-22       Impact factor: 9.910

Review 4.  Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function.

Authors:  Susan A M Mulders; Baziel G M van Engelen; Bé Wieringa; Derick G Wansink
Journal:  Hum Mol Genet       Date:  2010-04-20       Impact factor: 6.150

5.  Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

Authors:  S Veronica Tan; Emma Matthews; Melissa Barber; James A Burge; Sanjeev Rajakulendran; Doreen Fialho; Richa Sud; Andrea Haworth; Martin Koltzenburg; Michael G Hanna
Journal:  Ann Neurol       Date:  2011-02       Impact factor: 10.422

6.  Sodium channel slow inactivation as a therapeutic target for myotonia congenita.

Authors:  Kevin R Novak; Jennifer Norman; Jacob R Mitchell; Martin J Pinter; Mark M Rich
Journal:  Ann Neurol       Date:  2015-01-09       Impact factor: 10.422

7.  Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats.

Authors:  Wenjing Zhang; Yang Wang; Shuyun Dong; Rajarshi Choudhury; Yongfeng Jin; Zefeng Wang
Journal:  Mol Ther       Date:  2013-10-23       Impact factor: 11.454

8.  Type 2B muscle fibre deficiency in myotonia and paramyotonia congenita. A genetically determined histochemical fibre type pattern?

Authors:  R Heene; R R Gabriel; F Manz; K Schimrigk
Journal:  J Neurol Sci       Date:  1986-03       Impact factor: 3.181

9.  Myotonia levior is a chloride channel disorder.

Authors:  F Lehmann-Horn; V Mailänder; R Heine; A L George
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

Review 10.  Drug treatment for myotonia.

Authors:  J Trip; G Drost; B G M van Engelen; C G Faber
Journal:  Cochrane Database Syst Rev       Date:  2006-01-25
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