about
cDNA cloning and chromosomal localization of human alpha(11) integrin. A collagen-binding, I domain-containing, beta(1)-associated integrin alpha-chain present in muscle tissuesA protocol to develop clinical guidelines for inclusion-body myositisGuidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translationalPrimary Murine Myotubes as a Model for Investigating Muscular DystrophyThe kinase domain of titin controls muscle gene expression and protein turnover.Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation SequencingKnockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscleKnockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathyConsensus statement on standard of care for congenital muscular dystrophies.Consensus statement on standard of care for congenital myopathies.Genetic spectrum of cardiomyopathies with neuromuscular phenotype.Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.Progressive cardiac conduction disease associated with a DSP gene mutation.Up-regulation of a novel integrin alpha-chain (alpha mt) on human fetal myotubes.Analysis of fibronectin and vitronectin receptors on human fetal skeletal muscle cells upon differentiation.Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II.A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.Sustained favorable effects of cognitive training in children with acquired brain injuries.Attention and memory training in children with acquired brain injuries.Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study.Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner.Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up.Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds.Nestin distribution in the developing limb bud in vivo and in vitro.Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubesMuscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatmentBest Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophiesMice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondriaLong-term follow-up of children with obstetric brachial plexus palsy I: functional aspectsLong-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspectsDesmin mutations in a St. Petersburg cohort of cardiomyopathies[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy]Lung clearance in children with Duchenne muscular dystrophy or spinal muscular atrophy with and without CPAP (continuous positive airway pressure)Pediatric rhabdomyosarcomas express the intermediate filament nestin
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description
hulumtues
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հետազոտող
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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Thomas Sejersen
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thomas-sejersen
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0000-0001-5961-7097