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  • Martin Brockington, Derek J Blake, +11 authors Francesco Muntoni
  • Medicine, Biology
  • American journal of human genetics
  • 2001 (First Publication: 1 December 2001)
  • The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders presenting in infancy with muscle weakness, contractures, and dystrophic changes onContinue Reading
  • Mario Pescatori, Aldobrando Broccolini, +14 authors Enzo Ricci
  • Biology, Medicine
  • FASEB journal : official publication of the…
  • 2007 (First Publication: 1 April 2007)
  • Genome-wide gene expression profiling of skeletal muscle from Duchenne muscular dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD children older than 5 years. ByContinue Reading
  • Caroline Godfrey, Emma M Clement, +19 authors Francesco Muntoni
  • Medicine, Biology
  • Brain : a journal of neurology
  • 2007 (First Publication: 1 October 2007)
  • Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions whichContinue Reading
  • Marion Main, Harvey Kairon, Eugenio Mercuri, Francesco Muntoni
  • Medicine, Biology
  • European journal of paediatric neurology : EJPN…
  • 2001 (First Publication: 1 September 2001)
  • A functional motor scale was devised for use in children with spinal muscular atrophy type 2 and type 3, in particular those with limited mobility, to give objective information on motor ability andContinue Reading
  • Mary A. Rutherford, Jacqueline M. Pennock, +4 authors Alexander D. Edwards
  • Medicine
  • Pediatrics
  • 1998 (First Publication: 1 August 1998)
  • OBJECTIVE The aim of this study was to establish whether abnormal signal intensity in the posterior limb of the internal capsule (PLIC) on magnetic resonance imaging is an accurate predictor ofContinue Reading