Literature DB >> 25712079

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

Kristen J Nowak1, Mark R Davis2, Carina Wallgren-Pettersson3, Phillipa J Lamont2, Nigel G Laing1.   

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Year:  2015        PMID： 25712079      PMCID： PMC4613474          DOI： 10.1038/ejhg.2015.12

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


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  56 in total

1.  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

2.  Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Authors:  Vilma-Lotta Lehtokari; Chantal Ceuterick-de Groote; Peter de Jonghe; Minttu Marttila; Nigel G Laing; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Neuromuscul Disord       Date:  2007-04-16       Impact factor: 4.296

3.  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

4.  Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.

Authors:  David O Hutchinson; Amanda Charlton; Nigel G Laing; Biljana Ilkovski; Kathryn N North
Journal:  Neuromuscul Disord       Date:  2006-01-19       Impact factor: 4.296

5.  Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Authors:  Pankaj B Agrawal; Rebecca S Greenleaf; Kinga K Tomczak; Vilma-Lotta Lehtokari; Carina Wallgren-Pettersson; William Wallefeld; Nigel G Laing; Basil T Darras; Sutherland K Maciver; Philip R Dormitzer; Alan H Beggs
Journal:  Am J Hum Genet       Date:  2006-11-14       Impact factor: 11.025

6.  Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Authors:  Vilma-Lotta Lehtokari; Katarina Pelin; Kati Donner; Thomas Voit; Sabine Rudnik-Schöneborn; Mechthild Stoetter; Beril Talim; Haluk Topaloglu; Nigel G Laing; Carina Wallgren-Pettersson
Journal:  Eur J Hum Genet       Date:  2008-04-02       Impact factor: 4.246

7.  Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.

Authors:  Pankaj B Agrawal; Corinne D Strickland; Charles Midgett; Ana Morales; Daniel E Newburger; Melisa A Poulos; Kinga K Tomczak; Monique M Ryan; Susan T Iannaccone; Tom O Crawford; Nigel G Laing; Alan H Beggs
Journal:  Ann Neurol       Date:  2004-07       Impact factor: 10.422

8.  Mutation update: the spectra of nebulin variants and associated myopathies.

Authors:  Vilma-Lotta Lehtokari; Kirsi Kiiski; Sarah A Sandaradura; Jocelyn Laporte; Pauliina Repo; Jennifer A Frey; Kati Donner; Minttu Marttila; Carol Saunders; Peter G Barth; Johan T den Dunnen; Alan H Beggs; Nigel F Clarke; Kathryn N North; Nigel G Laing; Norma B Romero; Thomas L Winder; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878

9.  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

10.  K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Authors:  Nancy Mokbel; Biljana Ilkovski; Michaela Kreissl; Massimiliano Memo; Cy M Jeffries; Minttu Marttila; Vilma-Lotta Lehtokari; Elina Lemola; Mikaela Grönholm; Nan Yang; Dominique Menard; Pascale Marcorelles; Andoni Echaniz-Laguna; Jens Reimann; Mariz Vainzof; Nicole Monnier; Gianina Ravenscroft; Elyshia McNamara; Kristen J Nowak; Nigel G Laing; Carina Wallgren-Pettersson; Jill Trewhella; Steve Marston; Coen Ottenheijm; Kathryn N North; Nigel F Clarke
Journal:  Brain       Date:  2013-01-31       Impact factor: 13.501
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  5 in total

Review 1.  Overview of the Muscle Cytoskeleton.

Authors:  Christine A Henderson; Christopher G Gomez; Stefanie M Novak; Lei Mi-Mi; Carol C Gregorio
Journal:  Compr Physiol       Date:  2017-06-18       Impact factor: 9.090

2.  Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.

Authors:  Jacquelyn M Evans; Melissa L Cox; Jonathan Huska; Frank Li; Luis Gaitero; Ling T Guo; Margaret L Casal; Henk L Granzier; G Diane Shelton; Leigh Anne Clark
Journal:  Mamm Genome       Date:  2016-05-23       Impact factor: 2.957

3.  Mutation-specific effects on thin filament length in thin filament myopathy.

Authors:  Josine M de Winter; Barbara Joureau; Eun-Jeong Lee; Balázs Kiss; Michaela Yuen; Vandana A Gupta; Christopher T Pappas; Carol C Gregorio; Ger J M Stienen; Simon Edvardson; Carina Wallgren-Pettersson; Vilma-Lotta Lehtokari; Katarina Pelin; Edoardo Malfatti; Norma B Romero; Baziel G van Engelen; Nicol C Voermans; Sandra Donkervoort; C G Bönnemann; Nigel F Clarke; Alan H Beggs; Henk Granzier; Coen A C Ottenheijm
Journal:  Ann Neurol       Date:  2016-04-30       Impact factor: 10.422

4.  L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy.

Authors:  Adriana M Messineo; Charlotte Gineste; Tamar E Sztal; Elyshia L McNamara; Christophe Vilmen; Augustin C Ogier; Dorothee Hahne; David Bendahan; Nigel G Laing; Robert J Bryson-Richardson; Julien Gondin; Kristen J Nowak
Journal:  Sci Rep       Date:  2018-07-31       Impact factor: 4.379

5.  New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Authors:  Sarah Moreau-Le Lan; Elena Aller; Ines Calabria; Lola Gonzalez-Tarancon; Cristina Cardona-Gay; Marina Martinez-Matilla; Maria J Aparisi; Jorge Selles; Lydia Sagath; Inmaculada Pitarch; Nuria Muelas; Jose V Cervera; Jose M Millan; Laia Pedrola
Journal:  PLoS One       Date:  2018-12-05       Impact factor: 3.240
  5 in total

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