Literature DB >> 8534290

Congenital muscular dystrophies: clinical review and proposed classification.

E Parano1, L Pavone, A Fiumara, R Falsaperla, R R Trifiletti, W B Dobyns.   

Abstract

The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndromes.

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Year:  1995        PMID： 8534290     DOI： 10.1016/0887-8994(95)00148-9

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  6 in total

1.  Conditional knockout of protein O-mannosyltransferase 2 reveals tissue-specific roles of O-mannosyl glycosylation in brain development.

Authors:  Huaiyu Hu; Jing Li; Christine S Gagen; Noel W Gray; Zhen Zhang; Yue Qi; Peng Zhang
Journal:  J Comp Neurol       Date:  2011-05-01       Impact factor: 3.215

2.  Developmental expression of the neuron-specific N-acetylglucosaminyltransferase Vb (GnT-Vb/IX) and identification of its in vivo glycan products in comparison with those of its paralog, GnT-V.

Authors:  Jin Kyu Lee; Russell T Matthews; Jae-Min Lim; Kiara Swanier; Lance Wells; J Michael Pierce
Journal:  J Biol Chem       Date:  2012-06-19       Impact factor: 5.157

3.  Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies.

Authors:  Jing Li; Miao Yu; Gang Feng; Huaiyu Hu; Xiaofeng Li
Journal:  Neurosci Lett       Date:  2011-09-29       Impact factor: 3.046

4.  Retinal ectopias and mechanically weakened basement membrane in a mouse model of muscle-eye-brain (MEB) disease congenital muscular dystrophy.

Authors:  Huaiyu Hu; Joseph Candiello; Peng Zhang; Sherry L Ball; David A Cameron; Willi Halfter
Journal:  Mol Vis       Date:  2010-07-28       Impact factor: 2.367

5.  Central nervous system involvement in the animal model of myodystrophy.

Authors:  Clarissa M Comim; Bruna P Mendonça; Diogo Dominguini; Andreza L Cipriano; Amanda V Steckert; Giselli Scaini; Mariz Vainzof; Emílio L Streck; Felipe Dal-Pizzol; João Quevedo
Journal:  Mol Neurobiol       Date:  2013-03-19       Impact factor: 5.590

Review 6.  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
  6 in total

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