Literature DB >> 9565992

51st ENMC International Workshop: Nemaline Myopathy. 13-15 June 1997, Naarden, The Netherlands.

C Wallgren-Pettersson1, A H Beggs, N G Laing.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9565992

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


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  4 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

Review 2.  Nemaline myopathies: a current view.

Authors:  Caroline A Sewry; Jenni M Laitila; Carina Wallgren-Pettersson
Journal:  J Muscle Res Cell Motil       Date:  2019-06-21       Impact factor: 2.698

3.  A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions.

Authors:  Keisuke Ueda; Fatema Serajee; Ahm M Huq
Journal:  J Clin Neurol       Date:  2017-04-06       Impact factor: 3.077

4.  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
  4 in total

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