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Neuromuscular Disorders : NMD|March 21, 2001
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathyC A Sewry, S C Brown, K Pelin, et al.
The Journal of Clinical Investigation|August 1, 1995
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heartF Muntoni, L Wilson, G Marrosu, et al.
Neuromuscular Disorders : NMD|May 1, 1994
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filamentsF Muntoni, G Catani, A Mateddu, et al.
Brain : a Journal of Neurology|March 2, 1999
Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy studyR Lodi, G J Kemp, F Muntoni, et al.
Neuromuscular Disorders : NMD|April 12, 2001
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophyE Mercuri, M Rutherford, C De Vile, et al.
Neuromuscular Disorders : NMD|September 8, 2004
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic AtaxiaM Kinali, H Jungbluth, L H Eunson, et al.
Archives of Neurology|March 1, 1993
Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosisM G Marrosu, F Muntoni, M R Murru, et al.
Human Genetics|May 12, 2005
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3G S Sellick, C Longman, M Brockington, et al.
Journal of the American College of Cardiology|November 25, 2000
Magnetic resonance spectroscopy evidence of abnormal cardiac energetics in Xp21 muscular dystrophyJ G Crilley, E A Boehm, B Rajagopalan, et al.
Neuropediatrics|February 7, 2003
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literatureG Haliloglu, A Chattopadhyay, L Skorodis, et al.
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