Published in J Inherit Metab Dis on January 01, 2004
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Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.31
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A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord (2006) 1.26
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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet (2001) 1.25
168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord (2010) 1.23
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Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Neuropathol Appl Neurobiol (2004) 1.16
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Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord (2003) 1.06
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Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis. Neuromuscul Disord (2013) 1.05
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat (1996) 1.05
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Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord (2001) 1.02
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia. Neuromuscul Disord (2004) 1.02
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord (2001) 1.02
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Gene deletions in spinal muscular atrophy. J Med Genet (1996) 0.99
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60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. Neuromuscul Disord (1999) 0.97
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands. Neuromuscul Disord (2005) 0.97
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology (2005) 0.97
Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia. Hum Genet (2001) 0.97
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J Med Genet (2003) 0.97
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Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy. Neuromuscul Disord (1997) 0.96
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Diagnosis and new treatments in muscular dystrophies. Postgrad Med J (2009) 0.96
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. C R Acad Sci III (1995) 0.96
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord (2012) 0.95
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. J Inherit Metab Dis (2005) 0.95
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Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain (1998) 0.95
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord (1999) 0.95
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology (2003) 0.95
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord (1999) 0.95
POMT2 mutation in a patient with 'MEB-like' phenotype. Neuromuscul Disord (2006) 0.95
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet (1993) 0.95
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. Neuromuscul Disord (2007) 0.94
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart (2004) 0.93
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