about
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotypeTranscriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular RegulatorsA POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.Gene expression profiling in limb-girdle muscular dystrophy 2AA novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.Analysis of serum miRNA profiles of myasthenia gravis patients.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J miceMuscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyMuscle MRI in muscular dystrophiesMild cholesterol depletion reduces amyloid-beta production by impairing APP trafficking to the cell surface.Limb-girdle muscular dystrophy 2A.Identification of novel GH-regulated genes in C2C12 cells.Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression.Dysferlin regulates cell adhesion in human monocytes.Peripheral neuropathy associated with anti-GM2 ganglioside antibodies: clinical and immunopathological studies.Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy.IgM monoclonal antibody against terminal moiety of GM2, GalNAc-GD1a and GalNAc-GM1b from a pure motor chronic demyelinating polyneuropathy patient: effects on neurotransmitter release.Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.A new phenotype of dysferlinopathy with congenital onset.Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysis.Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.Genetic and epigenetic determinants of low dysferlin expression in monocytes.
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հետազոտող
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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Eduard Gallardo
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7007144409
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0000-0002-3942-3436