Literature DB >> 19487656

TPM3 mutation in one of the original cases of cap disease.

Monica Ohlsson1, Anna Fidzianska, Homa Tajsharghi, Anders Oldfors.   

Abstract

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Year:  2009        PMID： 19487656     DOI： 10.1212/WNL.0b013e3181a82659

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

1.  Clinical utility gene card for: nemaline myopathy.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2012-04-18       Impact factor: 4.246

2.  Clinical utility gene card for: Nemaline myopathy - update 2015.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

3.  Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Authors:  Giorgio Tasca; Zagaa Odgerel; Mauro Monforte; Stefania Aurino; Nigel F Clarke; Leigh B Waddell; Bjarne Udd; Enzo Ricci; Lev G Goldfarb
Journal:  Muscle Nerve       Date:  2012-08       Impact factor: 3.217

4.  Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Authors:  I C Kiphuth; S Krause; H B Huttner; G Dekomien; T Struffert; R Schröder
Journal:  J Neurol       Date:  2009-12-10       Impact factor: 4.849

5.  Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Authors:  Michael W Lawlor; Elizabeth T Dechene; Emily Roumm; Amelia S Geggel; Behzad Moghadaszadeh; Alan H Beggs
Journal:  Hum Mutat       Date:  2010-02       Impact factor: 4.878

6.  Approach to the diagnosis of congenital myopathies.

Authors:  Kathryn N North; Ching H Wang; Nigel Clarke; Heinz Jungbluth; Mariz Vainzof; James J Dowling; Kimberly Amburgey; Susana Quijano-Roy; Alan H Beggs; Caroline Sewry; Nigel G Laing; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2013-11-18       Impact factor: 4.296

7.  Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Authors:  Michaela Yuen; Sandra T Cooper; Steve B Marston; Kristen J Nowak; Elyshia McNamara; Nancy Mokbel; Biljana Ilkovski; Gianina Ravenscroft; John Rendu; Josine M de Winter; Lars Klinge; Alan H Beggs; Kathryn N North; Coen A C Ottenheijm; Nigel F Clarke
Journal:  Hum Mol Genet       Date:  2015-08-24       Impact factor: 6.150

8.  TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Authors:  M Papadaki; J M de Winter; M B Neu; S Donkervoort; J Kirschner; V Bolduc; M L Yang; M A Gibbons; Y Hu; J Dastgir; M E Leach; A Rutkowski; A R Foley; M Krüger; E P Wartchow; E McNamara; R Ong; K J Nowak; N G Laing; N F Clarke; Cac Ottenheijm; S B Marston; C G Bönnemann
Journal:  Ann Neurol       Date:  2015-11-13       Impact factor: 10.422

9.  The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Authors:  Haoyue Xu; Hang Liu; Tao Chen; Bo Song; Jin Zhu; Xing Liu; Ming Li; Cong Luo
Journal:  Genes Dis       Date:  2020-01-25
  9 in total

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