Literature DB >> 12374585

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.

Enrico Bertini1, Guglielmina Pepe.   

Abstract

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Year:  2002        PMID： 12374585     DOI： 10.1053/ejpn.2002.0593

Source DB:  PubMed          Journal:  Eur J Paediatr Neurol        ISSN： 1090-3798            Impact factor:   3.140


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  30 in total

Review 1.  Animal models of muscular dystrophy.

Authors:  Rainer Ng; Glen B Banks; John K Hall; Lindsey A Muir; Julian N Ramos; Jacqueline Wicki; Guy L Odom; Patryk Konieczny; Jane Seto; Joel R Chamberlain; Jeffrey S Chamberlain
Journal:  Prog Mol Biol Transl Sci       Date:  2012       Impact factor: 3.622

2.  Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

Authors:  A Reghan Foley; Ying Hu; Yaqun Zou; Michele Yang; Līvija Medne; Meganne Leach; Laura K Conlin; Nancy Spinner; Tamim H Shaikh; Marni Falk; Ann M Neumeyer; Laurie Bliss; Brian S Tseng; Thomas L Winder; Carsten G Bönnemann
Journal:  Ann Neurol       Date:  2011-01       Impact factor: 10.422

3.  An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Authors:  Cristina Dias; Murat Sincan; Praveen F Cherukuri; Rosemarie Rupps; Yan Huang; Hannah Briemberg; Kathryn Selby; James C Mullikin; Thomas C Markello; David R Adams; William A Gahl; Cornelius F Boerkoel
Journal:  Hum Mutat       Date:  2012-02-28       Impact factor: 4.878

Review 4.  The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  Carsten G Bönnemann
Journal:  Handb Clin Neurol       Date:  2011

5.  A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Authors:  Laura Lucarini; Betti Giusti; Rui-Zhu Zhang; Te-Cheng Pan; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Francesco Muntoni; Guglielmina Pepe; Mon-Li Chu
Journal:  Hum Genet       Date:  2005-06-17       Impact factor: 4.132

6.  New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Authors:  Te-Cheng Pan; Rui-Zhu Zhang; Dominick G Sudano; Suely K Marie; Carsten G Bönnemann; Mon-Li Chu
Journal:  Am J Hum Genet       Date:  2003-07-01       Impact factor: 11.025

7.  Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Authors:  Rishika A Pace; Rachel A Peat; Naomi L Baker; Laura Zamurs; Matthias Mörgelin; Melita Irving; Naomi E Adams; John F Bateman; David Mowat; Nicholas J C Smith; Phillipa J Lamont; Steven A Moore; Katherine D Mathews; Kathryn N North; Shireen R Lamandé
Journal:  Ann Neurol       Date:  2008-09       Impact factor: 10.422

8.  Zebrafish models of collagen VI-related myopathies.

Authors:  W R Telfer; A S Busta; C G Bonnemann; E L Feldman; J J Dowling
Journal:  Hum Mol Genet       Date:  2010-03-25       Impact factor: 6.150

9.  Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.

Authors:  Matteo Bovolenta; Marcella Neri; Elena Martoni; Anna Urciuolo; Patrizia Sabatelli; Marina Fabris; Paolo Grumati; Eugenio Mercuri; Enrico Bertini; Luciano Merlini; Paolo Bonaldo; Alessandra Ferlini; Francesca Gualandi
Journal:  BMC Med Genet       Date:  2010-03-19       Impact factor: 2.103

10.  Autosomal recessive inheritance of classic Bethlem myopathy.

Authors:  A Reghan Foley; Ying Hu; Yaqun Zou; Alexandra Columbus; John Shoffner; Diane M Dunn; Robert B Weiss; Carsten G Bönnemann
Journal:  Neuromuscul Disord       Date:  2009-11-01       Impact factor: 4.296
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