Published in Neuromuscul Disord on September 04, 2013
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Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell (2010) 2.42
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
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Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. JAMA (2012) 1.58
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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2009) 1.44
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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
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Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol (2007) 1.29
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Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20
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CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain (2009) 1.18
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Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility. Brain (2011) 1.11
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Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Brain (2006) 1.11
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A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. Brain (2012) 1.08
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