Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Eugenio Maria Mercuri, Marika Pane, Enzo Ricci, Anna D'Amico, Gessica Vasco, Enrico Silvio Bertini, Salvatore Messina, Cristina Bruno, M Mora, E Pegoraro, Gp Comi, C Aiello, R Biancheri, A Berardinelli, Pietro Boffi, D Cassandrini, A Laverda, M Moggio, Laura Morandi, I MoroniR Pezzani, A Pichiecchio, A Pini, C Minetti, T Mongini, E Mottarelli, Antonello Ruggieri, S Saredi, C Scuderi, A Tessa, A Toscano, G Tortorella, Cp Trevisan, C Uggetti, Fm Santorelli

Risultato della ricerca: Contributo in rivistaArticolo in rivista

134 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1802-1809
Numero di pagine8
RivistaNeurology
Volume72
DOI
Stato di pubblicazionePubblicato - 2009

Keywords

  • Adolescent
  • Brain
  • Child
  • Child, Preschool
  • Cohort Studies
  • Dystroglycans
  • Female
  • Glycosylation
  • Glycosyltransferases
  • Humans
  • Infant
  • Italy
  • Magnetic Resonance Imaging
  • Mannosyltransferases
  • Membrane Proteins
  • Muscle, Skeletal
  • Muscular Dystrophies
  • Mutation
  • N-Acetylglucosaminyltransferases
  • Phenotype
  • Prevalence
  • Proteins

Fingerprint

Entra nei temi di ricerca di 'Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study'. Insieme formano una fingerprint unica.

Cita questo