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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
Neuromuscular Disorders : NMD|December 3, 2014
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutationChet R Villa, Thomas D Ryan, James J Collins, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophyRoberto De Sanctis, Marika Pane, Serena Sivo, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infantsK Vill, J Schessl, V Teusch, et al.
Neuromuscular Disorders : NMD|December 3, 2014
Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritisAlain Meyer, Béatrice Lannes, Raphaël Carapito, et al.
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