Literature DB >> 19264483

161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.

Nigel G Laing1, Carina Wallgren-Pettersson.   

Abstract

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Year:  2009        PMID: 19264483     DOI: 10.1016/j.nmd.2009.02.002

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


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  6 in total

1.  Consensus statement on standard of care for congenital myopathies.

Authors:  Ching H Wang; James J Dowling; Kathryn North; Mary K Schroth; Thomas Sejersen; Frederic Shapiro; Jonathan Bellini; Hali Weiss; Marc Guillet; Kimberly Amburgey; Susan Apkon; Enrico Bertini; Carsten Bonnemann; Nigel Clarke; Anne M Connolly; Brigitte Estournet-Mathiaud; Dominic Fitzgerald; Julaine M Florence; Richard Gee; Juliana Gurgel-Giannetti; Allan M Glanzman; Brittany Hofmeister; Heinz Jungbluth; Anastassios C Koumbourlis; Nigel G Laing; Marion Main; Leslie A Morrison; Craig Munns; Kristy Rose; Pamela M Schuler; Caroline Sewry; Kari Storhaug; Mariz Vainzof; Nanci Yuan
Journal:  J Child Neurol       Date:  2012-03       Impact factor: 1.987

Review 2.  Congenital myopathies: an update.

Authors:  Jessica R Nance; James J Dowling; Elizabeth M Gibbs; Carsten G Bönnemann
Journal:  Curr Neurol Neurosci Rep       Date:  2012-04       Impact factor: 5.081

3.  Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Authors:  Nyamkhishig Sambuughin; Kyle S Yau; Montse Olivé; Rachael M Duff; Munkhuu Bayarsaikhan; Shajia Lu; Laura Gonzalez-Mera; Padma Sivadorai; Kristen J Nowak; Gianina Ravenscroft; Frank L Mastaglia; Kathryn N North; Biljana Ilkovski; Hannie Kremer; Martin Lammens; Baziel G M van Engelen; Vicki Fabian; Phillipa Lamont; Mark R Davis; Nigel G Laing; Lev G Goldfarb
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

4.  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

Review 5.  Tropomodulin capping of actin filaments in striated muscle development and physiology.

Authors:  David S Gokhin; Velia M Fowler
Journal:  J Biomed Biotechnol       Date:  2011-10-17

6.  Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Authors:  William R Telfer; Darcee D Nelson; Trent Waugh; Susan V Brooks; James J Dowling
Journal:  Dis Model Mech       Date:  2011-12-12       Impact factor: 5.758

  6 in total

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