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Muscle & Nerve|August 27, 2005
Syncoilin upregulation in muscle of patients with neuromuscular diseaseSusan C Brown, Silvia Torelli, Isabella Ugo, et al.
International Journal of Molecular Sciences|March 29, 2023
A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical MonitoringRachele Rossi, Camilla Johansson, Wendy Heywood, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the humanMarcella Neri, Silvia Torelli, Sue Brown, et al.
The American Journal of Pathology|January 27, 2004
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophiesSusan C Brown, Silvia Torelli, Martin Brockington, et al.
Molecular Genetics and Metabolism Reports|May 3, 2016
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of GlycosylationWendy E Heywood, Emily Bliss, Philippa Mills, et al.
Human Molecular Genetics|September 11, 2003
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycanCheryl Longman, Martin Brockington, Silvia Torelli, et al.
Frontiers in Physiology|November 8, 2021
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential <i>in vitro</i> Model for Rare Genetic DiseasesMaria Sofia Falzarano, Rachele Rossi, Andrea Grilli, et al.
Annals of Neurology|October 18, 2006
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophyCaroline Godfrey, Diana Escolar, Martin Brockington, et al.
Neuromuscular Disorders : NMD|December 18, 2003
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycanPervin Dinçer, Burcu Balci, Yeliz Yuva, et al.
Archives of Neurology|January 16, 2008
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variantEmma M Clement, Caroline Godfrey, Jenny Tan, et al.
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