Dysferlinopathies.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet (2011) 1.16

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies. J Cell Mol Med (2012) 1.08

Diaphragm displays early and progressive functional deficits in dysferlin-deficient mice. Muscle Nerve (2010) 1.00

Ferlin proteins in myoblast fusion and muscle growth. Curr Top Dev Biol (2011) 0.98

AAV.Dysferlin Overlap Vectors Restore Function in Dysferlinopathy Animal Models. Ann Clin Transl Neurol (2015) 0.95

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. PLoS One (2011) 0.89

Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods. J Histochem Cytochem (2011) 0.85

Improved immunoblotting methods provide critical insights into phenotypic differences between two murine dysferlinopathy models. Muscle Nerve (2014) 0.79

Myofiber damage precedes macrophage infiltration after in vivo injury in dysferlin-deficient A/J mouse skeletal muscle. Am J Pathol (2015) 0.78

Dysferlin-Deficient Muscular Dystrophy Identified Through Laboratory Testing for Elevated Aminotransferases. ACG Case Rep J (2016) 0.77

CD4+ cells, macrophages, MHC-I and C5b-9 involve the pathogenesis of dysferlinopathy. Int J Clin Exp Pathol (2015) 0.77

The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes. BMC Cell Biol (2016) 0.75

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. Hum Mutat (2009) 2.93

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science (2004) 2.71

Satellite cells attract monocytes and use macrophages as a support to escape apoptosis and enhance muscle growth. J Cell Biol (2003) 2.19

Muscle satellite cells and endothelial cells: close neighbors and privileged partners. Mol Biol Cell (2007) 2.16

Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat (2008) 1.78

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol (2007) 1.76

CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol (2006) 1.73

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol (2007) 1.72

Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol (2007) 1.47

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain (2009) 1.44

Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell (2007) 1.43

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet (2006) 1.37

Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up. PLoS One (2009) 1.36

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34

Endomysial fibrosis in Duchenne muscular dystrophy: a marker of poor outcome associated with macrophage alternative activation. J Neuropathol Exp Neurol (2009) 1.31

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat (2007) 1.31

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet (2013) 1.20

A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet (2002) 1.19

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat (2010) 1.18

Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet (2008) 1.17

Unique preservation of neural cells in Hutchinson- Gilford progeria syndrome is due to the expression of the neural-specific miR-9 microRNA. Cell Rep (2012) 1.16

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet (2012) 1.16

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat (2005) 1.15

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet (2009) 1.13

Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat (2009) 1.11

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. Hum Mutat (2011) 1.10

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

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. PLoS Genet (2013) 1.08

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med (2010) 1.04

Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol (2012) 1.03

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy. Hum Gene Ther (2004) 1.01

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS Genet (2012) 1.01

Identification of splicing defects caused by mutations in the dysferlin gene. Hum Mutat (2014) 0.99

Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: a phenotypic study. Eur J Heart Fail (2005) 0.99

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genet Test Mol Biomarkers (2009) 0.98

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Eur J Hum Genet (2010) 0.97

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscul Disord (2009) 0.97

Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. J Allergy Clin Immunol (2011) 0.97

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS One (2012) 0.97

DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice. Biochim Biophys Acta (2007) 0.97

An association of Hutchinson-Gilford progeria and malignancy. Am J Med Genet A (2007) 0.97

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene. Hum Mutat (2011) 0.97

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Neuromuscul Disord (2007) 0.96

Gene expression profiling in limb-girdle muscular dystrophy 2A. PLoS One (2008) 0.93

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. Am J Med Genet A (2004) 0.92

Screening of the CAPN3 gene in patients with possible LGMD2A. Clin Genet (2006) 0.91

LMNA mutations in atypical Werner's syndrome. Lancet (2003) 0.91

Prelamin A processing and functional effects in restrictive dermopathy. Cell Cycle (2010) 0.91

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome. Stem Cells Transl Med (2014) 0.91

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Hum Mol Genet (2013) 0.90

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes. Eur J Hum Genet (2013) 0.89

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease. Hum Mutat (2003) 0.88

Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case. Neurol India (2013) 0.87

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation. Hum Mol Genet (2012) 0.87

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype. Hum Mutat (2015) 0.85

Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: a case control study. Neuromuscul Disord (2009) 0.85

In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol (2005) 0.85

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases. J Neurol (2014) 0.85

Congenital and infantile myotonic dystrophy. Handb Clin Neurol (2013) 0.84

Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion. Ann Genet (2004) 0.84

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Brain (2004) 0.84

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Brain (2013) 0.84

Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. Am J Med Genet A (2008) 0.83

[Autosomal recessive forms of Charcot-Marie-Tooth disease]. Bull Acad Natl Med (2005) 0.83

Left ventricular non-compaction in a patient with myotonic dystrophy type 2. Neuromuscul Disord (2008) 0.83

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clin Genet (2012) 0.82

Translational research and therapeutic perspectives in dysferlinopathies. Mol Med (2011) 0.82

Toxoplasmic myositis as a presenting manifestation of idiopathic CD4 lymphocytopenia. Muscle Nerve (2003) 0.82

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J Rare Dis (2012) 0.82

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. Am J Med Genet A (2006) 0.82

Marked hemiatrophy in carriers of Duchenne muscular dystrophy. Arch Neurol (2010) 0.82

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke (2008) 0.81

Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. Neuromuscul Disord (2011) 0.80

Distinctive clinical features in arthro-myalgic patients with and without aluminum hydroxyde-induced macrophagic myofasciitis: an exploratory study. J Inorg Biochem (2013) 0.80

Clustering of the human skeletal muscle fibers using linear programming and angular Hilbertian metrics. Inf Process Med Imaging (2009) 0.80

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy. Clin Neurol Neurosurg (2005) 0.80

Neonatal screening for sickle cell disease in France: evaluation of the selective process. J Clin Pathol (2010) 0.79

[Dysferlin deficiency: the cause of limb-girdle muscular dystrophy 2B and Miyoshi myopathy in a Chinese pedigree]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2004) 0.79

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations? Muscle Nerve (2011) 0.79

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul Disord (2004) 0.79

Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet (2013) 0.79

Neutral lipid storage disease with myopathy: a whole-body nuclear MRI and metabolic study. Mol Genet Metab (2012) 0.79

Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy. Acta Neuropathol Commun (2014) 0.78