Literature DB >> 9713858

Genetics of the nemaline myopathies and the myotubular myopathies.

C Wallgren-Pettersson1.   

Abstract

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Year:  1998        PMID： 9713858     DOI： 10.1016/s0960-8966(98)00045-5

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  2 in total

1.  Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Authors:  K Pelin; P Hilpelä; K Donner; C Sewry; P A Akkari; S D Wilton; D Wattanasirichaigoon; M L Bang; T Centner; F Hanefeld; S Odent; M Fardeau; J A Urtizberea; F Muntoni; V Dubowitz; A H Beggs; N G Laing; S Labeit; A de la Chapelle; C Wallgren-Pettersson
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

2.  Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.

Authors:  Johan Lindqvist; Weikang Ma; Frank Li; Yaeren Hernandez; Justin Kolb; Balazs Kiss; Paola Tonino; Robbert van der Pijl; Esmat Karimi; Henry Gong; Josh Strom; Zaynab Hourani; John E Smith; Coen Ottenheijm; Thomas Irving; Henk Granzier
Journal:  Nat Commun       Date:  2020-06-01       Impact factor: 14.919
  2 in total

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