Literature DB >> 12467756

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.

Guglielmina Pepe1, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka, Rabah Ben Yaou, Patrizia Sabatelli, Caroline Sewry, Haluk Topaloglu, Anneke van der Kooi.   

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Year:  2002        PMID： 12467756     DOI： 10.1016/s0960-8966(02)00139-6

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


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  25 in total

Review 1.  The congenital muscular dystrophies: recent advances and molecular insights.

Authors:  Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal:  Pediatr Dev Pathol       Date:  2006 Nov-Dec

Review 2.  Minor collagens of the skin with not so minor functions.

Authors:  Georgios Theocharidis; John T Connelly
Journal:  J Anat       Date:  2017-02-02       Impact factor: 2.610

Review 3.  Collagen VI related muscle disorders.

Authors:  A K Lampe; K M D Bushby
Journal:  J Med Genet       Date:  2005-09       Impact factor: 6.318

Review 4.  Respiratory involvement in inherited primary muscle conditions.

Authors:  N Shahrizaila; W J M Kinnear; A J Wills
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-10       Impact factor: 10.154

5.  Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Authors:  A K Lampe; D M Dunn; A C von Niederhausern; C Hamil; A Aoyagi; S H Laval; S K Marie; M-L Chu; K Swoboda; F Muntoni; C G Bonnemann; K M Flanigan; K M D Bushby; R B Weiss
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

Review 6.  Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.

Authors:  Paolo Bernardi; Paolo Bonaldo
Journal:  Cold Spring Harb Perspect Biol       Date:  2013-05-01       Impact factor: 10.005

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.  Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.

Authors:  Luciano Merlini; Alessia Angelin; Tania Tiepolo; Paola Braghetta; Patrizia Sabatelli; Alessandra Zamparelli; Alessandra Ferlini; Nadir M Maraldi; Paolo Bonaldo; Paolo Bernardi
Journal:  Proc Natl Acad Sci U S A       Date:  2008-03-24       Impact factor: 11.205
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