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Neuromuscular Disorders : NMD|November 13, 2014
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patientsEmma L Humphrey, Erica Lacey, Lam T Le, et al.
Neuromuscular Disorders : NMD|June 28, 2016
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1bL Corrado, S Magri, A Bagarotti, et al.
Neuromuscular Disorders : NMD|March 2, 2016
Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient miceNorifumi Urao, Rita E Mirza, Ahlke Heydemann, et al.
Neuromuscular Disorders : NMD|February 27, 2016
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort studySonia Messina, Gian Luca Vita, Maria Sframeli, et al.
Neuromuscular Disorders : NMD|February 18, 2016
Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiencySandra Coppens, Pavla Koralkova, Alec Aeby, et al.
Neuromuscular Disorders : NMD|December 4, 2014
RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?Katharine M L Forrest, Nicola Foulds, John S Millar, et al.
Neuromuscular Disorders : NMD|November 2, 2015
Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1Fabio Esposito, Emiliano Cè, Susanna Rampichini, et al.
Neuromuscular Disorders : NMD|November 4, 2015
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical courseI Pezzini, A Geroldi, S Capponi, et al.
Neuromuscular Disorders : NMD|September 7, 2014
When a mid-intronic variation of DMD gene creates an ESE siteMadiha Trabelsi, Caroline Beugnet, Nathalie Deburgrave, et al.
Neuromuscular Disorders : NMD|December 2, 2014
Becoming a back-up carer: parenting sons with Duchenne muscular dystrophy transitioning into adulthoodMiku Yamaguchi, Machiko Suzuki
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