Literature DB >> 7678441

Genetics and physiology of the myotonic muscle disorders.

L J Ptacek1, K J Johnson, R C Griggs.   

Abstract

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Year:  1993        PMID： 7678441     DOI： 10.1056/NEJM199302183280707

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  26 in total

1.  Channelopathies.

Authors: 
Journal:  Curr Treat Options Neurol       Date:  2000-01       Impact factor: 3.598

2.  Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).

Authors:  M C Koch; K Ricker; M Otto; F Wolf; B Zoll; C Lorenz; K Steinmeyer; T J Jentsch
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

Review 3.  Neurology.

Authors:  R S Howard
Journal:  BMJ       Date:  1994-08-06

4.  Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.

Authors:  C Meyer-Kleine; M Otto; B Zoll; M C Koch
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

5.  Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.

Authors:  A Jaspert; R Fahsold; H Grehl; D Claus
Journal:  J Neurol       Date:  1995-01       Impact factor: 4.849

6.  Nondystrophic myotonia: challenges and future directions.

Authors:  Jaya R Trivedi; Stephen C Cannon; Robert C Griggs
Journal:  Exp Neurol       Date:  2013-12-18       Impact factor: 5.330

Review 7.  The nondystrophic myotonias.

Authors:  Chad R Heatwole; Richard T Moxley
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

8.  Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

Authors:  V Sansone; G Rotondo; L J Ptacek; G Meola
Journal:  Ital J Neurol Sci       Date:  1994-12

Review 9.  Skeletal Muscle Channelopathies.

Authors:  Lauren Phillips; Jaya R Trivedi
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

10.  Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

Authors:  E Plassart; A Elbaz; J V Santos; J Reboul; P Lapie; D Chauveau; K Jurkat-Rott; J Guimaraes; J M Saudubray; J Weissenbach
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
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