Published in Neuromuscul Disord on March 21, 2007
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Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation. Neuromuscul Disord (2010) 1.50
Multi-minicore Disease. Orphanet J Rare Dis (2007) 1.29
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol (2011) 1.13
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Sarcolipin deletion exacerbates soleus muscle atrophy and weakness in phospholamban overexpressing mice. PLoS One (2017) 0.75
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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm (2009) 4.99
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Dystroglycanopathies: coming into focus. Curr Opin Genet Dev (2011) 2.75
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet (2003) 2.69
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res (2002) 2.66
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A (2003) 2.65
A mutation in the thyroid hormone receptor alpha gene. N Engl J Med (2011) 2.62
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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation (2007) 2.38
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet (2008) 2.28
Lack of myostatin results in excessive muscle growth but impaired force generation. Proc Natl Acad Sci U S A (2007) 2.25
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy. J Neurol Neurosurg Psychiatry (2012) 2.05
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord (2007) 2.03
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet (2005) 1.98
MOG1: a new susceptibility gene for Brugada syndrome. Circ Cardiovasc Genet (2011) 1.97
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet (2012) 1.93
Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging (2007) 1.91
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain (2006) 1.88
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet (2013) 1.86
Myasthenia in pregnancy: best practice guidelines from a U.K. multispecialty working group. J Neurol Neurosurg Psychiatry (2013) 1.83
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol (2008) 1.83
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol (2010) 1.80
Muscular dystrophies. Lancet (2013) 1.79
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation (2009) 1.76
Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain (2010) 1.76
Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits. Cardiovasc Res (2012) 1.74
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm (2010) 1.71
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration. J Cell Sci (2008) 1.68
A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med (2011) 1.67
Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res (2005) 1.66
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A (2010) 1.64
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet (2012) 1.64
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet (2009) 1.64
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol (2003) 1.64
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy. Hum Mol Genet (2005) 1.61
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation. J Cardiovasc Electrophysiol (2013) 1.60
Dynamin 2 and human diseases. J Mol Med (Berl) (2010) 1.59
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. Science (2013) 1.57
Female predominance and transmission distortion in the long-QT syndrome. N Engl J Med (2006) 1.55
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesth Analg (2010) 1.55
The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands. Europace (2012) 1.54
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet (2013) 1.51
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.50
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain (2012) 1.50
Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice. Mol Ther (2010) 1.48
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol (2007) 1.47
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Am J Hum Genet (2013) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscul Disord (2005) 1.46
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest (2008) 1.46
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet (2002) 1.46
Activation of endoplasmic reticulum stress response by hepatitis viruses up-regulates protein phosphatase 2A. Hepatology (2007) 1.44
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet (2002) 1.41
Nemaline myopathies. Semin Pediatr Neurol (2011) 1.40
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. Mol Ther (2010) 1.38
Reintubation in the ICU versus in the operating room in cardiac surgery patients. Eur J Anaesthesiol (2020) 1.37
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet (2010) 1.35
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet (2010) 1.34
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol (2008) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33