Literature DB >> 12921796

114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).

F Muntoni1, B Valero de Bernabe, R Bittner, D Blake, H van Bokhoven, M Brockington, S Brown, K Bushby, K P Campbell, M Fiszman, S Gruenewald, L Merlini, S Quijano-Roy, N Romero, P Sabatelli, C A Sewry, V Straub, B Talim, H Topaloglu, T Voit, P D Yurchenco, J A Urtizberea, U M Wewer, P Guicheney.   

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Year:  2003        PMID： 12921796     DOI： 10.1016/s0960-8966(03)00072-5

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


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  6 in total

Review 1.  Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases.

Authors:  Craig M McDonald
Journal:  Phys Med Rehabil Clin N Am       Date:  2012-08       Impact factor: 1.784

2.  Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.

Authors:  Claudia C Leite; Leandro T Lucato; Maria G M Martin; Lucio G Ferreira; Maria B D Resende; Mary S Carvalho; Suely K N Marie; J Randy Jinkins; Umbertina C Reed
Journal:  Pediatr Radiol       Date:  2005-03-05

3.  New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.

Authors:  Nacim Louhichi; Chahnez Triki; Susana Quijano-Roy; Pascale Richard; Samira Makri; Mériem Méziou; Brigitte Estournet; Slah Mrad; Norma B Romero; Hammadi Ayadi; Pascale Guicheney; Faiza Fakhfakh
Journal:  Neurogenetics       Date:  2003-12-02       Impact factor: 2.660

Review 4.  Congenital muscular dystrophy: from muscle to brain.

Authors:  Raffaele Falsaperla; Andrea D Praticò; Martino Ruggieri; Enrico Parano; Renata Rizzo; Giovanni Corsello; Giovanna Vitaliti; Piero Pavone
Journal:  Ital J Pediatr       Date:  2016-08-31       Impact factor: 2.638

5.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05

6.  Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy.

Authors:  S Pasteuning-Vuhman; K Putker; C L Tanganyika-de Winter; J W Boertje-van der Meulen; L van Vliet; M Overzier; J J Plomp; A Aartsma-Rus; M van Putten
Journal:  PLoS One       Date:  2018-05-15       Impact factor: 3.240
  6 in total

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