Literature DB >> 22510848

Clinical utility gene card for: nemaline myopathy.

Kristen J Nowak1, Mark R Davis, Carina Wallgren-Pettersson, Phillipa J Lamont, Nigel G Laing.   

Abstract

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Mesh：

Year:  2012        PMID： 22510848      PMCID： PMC3355270          DOI： 10.1038/ejhg.2012.70

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


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  36 in total

1.  Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

Authors:  C Wallgren-Pettersson; N G Laing
Journal:  Neuromuscul Disord       Date:  2000-06       Impact factor: 4.296

2.  Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands.

Authors:  C Wallgren-Pettersson; N G Laing
Journal:  Neuromuscul Disord       Date:  2001-09       Impact factor: 4.296

3.  Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Authors:  Vilma-Lotta Lehtokari; Katarina Pelin; Agnes Herczegfalvi; Veronika Karcagi; Jean Pouget; Jerôme Franques; Jean François Pellissier; Dominique Figarella-Branger; Maja von der Hagen; Angela Huebner; Benedikt Schoser; Hanns Lochmüller; Carina Wallgren-Pettersson
Journal:  Neuromuscul Disord       Date:  2011-07-02       Impact factor: 4.296

4.  Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.

Authors:  C Wallgren-Pettersson; K Pelin; P Hilpelä; K Donner; B Porfirio; C Graziano; K J Swoboda; M Fardeau; J A Urtizberea; F Muntoni; C Sewry; V Dubowitz; S Iannaccone; C Minetti; M Pedemonte; M Seri; R Cusano; M Lammens; A Castagna-Sloane; A H Beggs; N G Laing; A de la Chapelle
Journal:  Neuromuscul Disord       Date:  1999-12       Impact factor: 4.296

5.  Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Authors:  Kati Donner; Miina Ollikainen; Maaret Ridanpää; Hans-Jürgen Christen; Hans H Goebel; Marianne de Visser; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Neuromuscul Disord       Date:  2002-02       Impact factor: 4.296

6.  A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Authors:  J J Johnston; R I Kelley; T O Crawford; D H Morton; R Agarwala; T Koch; A A Schäffer; C A Francomano; L G Biesecker
Journal:  Am J Hum Genet       Date:  2000-08-21       Impact factor: 11.025

7.  A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

Authors:  P C Scacheri; E P Hoffman; J D Fratkin; C Semino-Mora; A Senchak; M R Davis; N G Laing; V Vedanarayanan; S H Subramony
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

8.  Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

Authors:  Sandy S Sung; Anna-Marie E Brassington; Kathryn Grannatt; Ann Rutherford; Frank G Whitby; Patrycja A Krakowiak; Lynn B Jorde; John C Carey; Mike Bamshad
Journal:  Am J Hum Genet       Date:  2003-03       Impact factor: 11.025

9.  Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Authors:  H Jungbluth; C A Sewry; S C Brown; K J Nowak; N G Laing; C Wallgren-Pettersson; K Pelin; A Y Manzur; E Mercuri; V Dubowitz; F Muntoni
Journal:  Neuromuscul Disord       Date:  2001-01       Impact factor: 4.296

10.  Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Authors:  D Wattanasirichaigoon; K J Swoboda; F Takada; H-Q Tong; V Lip; S T Iannaccone; C Wallgren-Pettersson; N G Laing; A H Beggs
Journal:  Neurology       Date:  2002-08-27       Impact factor: 9.910
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  3 in total

1.  Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Authors:  Gianina Ravenscroft; Satoko Miyatake; Vilma-Lotta Lehtokari; Emily J Todd; Pauliina Vornanen; Kyle S Yau; Yukiko K Hayashi; Noriko Miyake; Yoshinori Tsurusaki; Hiroshi Doi; Hirotomo Saitsu; Hitoshi Osaka; Sumimasa Yamashita; Takashi Ohya; Yuko Sakamoto; Eriko Koshimizu; Shintaro Imamura; Michiaki Yamashita; Kazuhiro Ogata; Masaaki Shiina; Robert J Bryson-Richardson; Raquel Vaz; Ozge Ceyhan; Catherine A Brownstein; Lindsay C Swanson; Sophie Monnot; Norma B Romero; Helge Amthor; Nina Kresoje; Padma Sivadorai; Cathy Kiraly-Borri; Goknur Haliloglu; Beril Talim; Diclehan Orhan; Gulsev Kale; Adrian K Charles; Victoria A Fabian; Mark R Davis; Martin Lammens; Caroline A Sewry; Adnan Manzur; Francesco Muntoni; Nigel F Clarke; Kathryn N North; Enrico Bertini; Yoram Nevo; Ekkhard Willichowski; Inger E Silberg; Haluk Topaloglu; Alan H Beggs; Richard J N Allcock; Ichizo Nishino; Carina Wallgren-Pettersson; Naomichi Matsumoto; Nigel G Laing
Journal:  Am J Hum Genet       Date:  2013-06-06       Impact factor: 11.025

2.  Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy.

Authors:  Charlotte Gineste; Coen Ottenheijm; Yann Le Fur; Sébastien Banzet; Emilie Pecchi; Christophe Vilmen; Patrick J Cozzone; Nathalie Koulmann; Edna C Hardeman; David Bendahan; Julien Gondin
Journal:  PLoS One       Date:  2014-09-30       Impact factor: 3.240

3.  Multimodal MRI and (31)P-MRS investigations of the ACTA1(Asp286Gly) mouse model of nemaline myopathy provide evidence of impaired in vivo muscle function, altered muscle structure and disturbed energy metabolism.

Authors:  Charlotte Gineste; Guillaume Duhamel; Yann Le Fur; Christophe Vilmen; Patrick J Cozzone; Kristen J Nowak; David Bendahan; Julien Gondin
Journal:  PLoS One       Date:  2013-08-20       Impact factor: 3.240
  3 in total

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