Literature DB >> 11801404

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

Guglielmina Pepe1, Marianne de Visser, Enrico Bertini, Kate Bushby, Olga Camacho Vanegas, Mon Li Chu, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Andoni Urtizberea.   

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Year:  2002        PMID： 11801404     DOI： 10.1016/s0960-8966(01)00275-9

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


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  10 in total

Review 1.  Collagen VI related muscle disorders.

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

2.  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

3.  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

Review 4.  Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.

Authors:  N C Voermans; C G Bonnemann; B C J Hamel; H Jungbluth; B G van Engelen
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

5.  ColVI myopathies: where do we stand, where do we go?

Authors:  Valérie Allamand; Laura Briñas; Pascale Richard; Tanya Stojkovic; Susana Quijano-Roy; Gisèle Bonne
Journal:  Skelet Muscle       Date:  2011-09-23       Impact factor: 4.912

6.  Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis.

Authors:  Aralikatte Onkarappa Saroja; Karkal Ravishankar Naik; Atcharayam Nalini; Narayanappa Gayathri
Journal:  Ann Indian Acad Neurol       Date:  2013-10       Impact factor: 1.383

7.  Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy.

Authors:  Silvia Toni; Riccardo Morandi; Marcello Busacchi; Lucia Tardini; Luciano Merlini; Nino Carlo Battistini; Massimo Pellegrini
Journal:  Front Aging Neurosci       Date:  2014-11-17       Impact factor: 5.750

8.  Col6a1 null mice as a model to study skin phenotypes in patients with collagen VI related myopathies: expression of classical and novel collagen VI variants during wound healing.

Authors:  Sandra Lettmann; Wilhelm Bloch; Tobias Maaß; Anja Niehoff; Jan-Niklas Schulz; Beate Eckes; Sabine A Eming; Paolo Bonaldo; Mats Paulsson; Raimund Wagener
Journal:  PLoS One       Date:  2014-08-26       Impact factor: 3.240

9.  Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy.

Authors:  Patrizia Sabatelli; Luciano Merlini; Alberto Di Martino; Vittoria Cenni; Cesare Faldini
Journal:  Int J Environ Res Public Health       Date:  2022-01-23       Impact factor: 3.390

10.  A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish.

Authors:  Zlatko Radev; Jean-Michel Hermel; Yannick Elipot; Sandrine Bretaud; Sylvain Arnould; Philippe Duchateau; Florence Ruggiero; Jean-Stéphane Joly; Frédéric Sohm
Journal:  PLoS One       Date:  2015-07-29       Impact factor: 3.240
  10 in total

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