@article{24a9b83310f842f5b4ee9f07c5218abd,
title = "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study",
abstract = "Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases.",
keywords = "Adolescent, Brain, Child, Cohort Studies, Dystroglycans, Female, Glycosylation, Glycosyltransferases, Humans, Infant, Italy, Magnetic Resonance Imaging, Mannosyltransferases, Membrane Proteins, Muscle, Muscular Dystrophies, Mutation, N-Acetylglucosaminyltransferases, Phenotype, Preschool, Prevalence, Proteins, Skeletal, Adolescent, Brain, Child, Cohort Studies, Dystroglycans, Female, Glycosylation, Glycosyltransferases, Humans, Infant, Italy, Magnetic Resonance Imaging, Mannosyltransferases, Membrane Proteins, Muscle, Muscular Dystrophies, Mutation, N-Acetylglucosaminyltransferases, Phenotype, Preschool, Prevalence, Proteins, Skeletal",
author = "Mercuri, \{Eugenio Maria\} and Salvatore Messina and Cristina Bruno and M Mora and E Pegoraro and Gp Comi and Anna D'Amico and C Aiello and R Biancheri and A Berardinelli and Pietro Boffi and D Cassandrini and A Laverda and M Moggio and Laura Morandi and I Moroni and Marika Pane and R Pezzani and A Pichiecchio and A Pini and C Minetti and T Mongini and E Mottarelli and Enzo Ricci and Antonello Ruggieri and S Saredi and C Scuderi and A Tessa and A Toscano and G Tortorella and Cp Trevisan and C Uggetti and Gessica Vasco and Fm Santorelli and Bertini, \{Enrico Silvio\}",
year = "2009",
doi = "10.1212/01.wnl.0000346518.68110.60",
language = "English",
volume = "72",
pages = "1802--1809",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "21",
}