Literature DB >> 19805734

Core-rod myopathy caused by mutations in the nebulin gene.

N B Romero1, V-L Lehtokari, S Quijano-Roy, N Monnier, K G Claeys, R Y Carlier, N Pellegrini, D Orlikowski, A Barois, N G Laing, J Lunardi, M Fardeau, K Pelin, C Wallgren-Pettersson.   

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Year:  2009        PMID： 19805734     DOI： 10.1212/WNL.0b013e3181bacf45

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


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  29 in total

1.  Clinical utility gene card for: Multi-minicore disease.

Authors:  Suzanne Lillis; Steve Abbs; Ana Ferreiro; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-19       Impact factor: 4.246

2.  Clinical utility gene card for: Central core disease.

Authors:  Suzanne Lillis; Stephen Abbs; Clemens R Mueller; Francesco Muntoni; Heinz Jungbluth
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

3.  New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Authors:  Daniela Piga; Francesca Magri; Dario Ronchi; Stefania Corti; Denise Cassandrini; Eugenio Mercuri; Giorgio Tasca; Enrico Bertini; Fabiana Fattori; Antonio Toscano; Sonia Messina; Isabella Moroni; Marina Mora; Maurizio Moggio; Irene Colombo; Teresa Giugliano; Marika Pane; Chiara Fiorillo; Adele D'Amico; Claudio Bruno; Vincenzo Nigro; Nereo Bresolin; Giacomo Pietro Comi
Journal:  J Mol Neurosci       Date:  2016-04-22       Impact factor: 3.444

4.  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

Review 5.  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

6.  Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

Authors:  Julien Ochala; Vilma-Lotta Lehtokari; Hiroyuki Iwamoto; Meishan Li; Han-Zhong Feng; Jian-Ping Jin; Naoto Yagi; Carina Wallgren-Pettersson; Isabelle Pénisson-Besnier; Lars Larsson
Journal:  FASEB J       Date:  2011-02-24       Impact factor: 5.191

7.  Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.

Authors:  Ann E Davidson; Fazeel M Siddiqui; Michael A Lopez; Peter Lunt; Heather A Carlson; Brian E Moore; Seth Love; Donald E Born; Helen Roper; Anirban Majumdar; Suman Jayadev; Hunter R Underhill; Corrine O Smith; Maja von der Hagen; Angela Hubner; Philip Jardine; Andria Merrison; Elizabeth Curtis; Thomas Cullup; Heinz Jungbluth; Mary O Cox; Thomas L Winder; Hossam Abdel Salam; Jun Z Li; Steven A Moore; James J Dowling
Journal:  Brain       Date:  2013-02       Impact factor: 13.501

8.  Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

Authors:  Gilbert Wunderlich; Anna Brunn; Hülya-Sevcan Daimagüler; Tarik Bozoglu; Gereon R Fink; Helmar C Lehmann; Joachim Weis; Sebahattin Cirak
Journal:  Acta Myol       Date:  2018-06-01

Review 9.  Nebulin, a major player in muscle health and disease.

Authors:  Siegfried Labeit; Coen A C Ottenheijm; Henk Granzier
Journal:  FASEB J       Date:  2010-11-29       Impact factor: 5.191

10.  Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Authors:  Mariacristina Scoto; Thomas Cullup; Sebahattin Cirak; Shu Yau; Adnan Y Manzur; Lucy Feng; Thomas S Jacques; Glenn Anderson; Stephen Abbs; Caroline Sewry; Heinz Jungbluth; Francesco Muntoni
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246
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