Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
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Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathiesCollagen VI related muscle disordersAutomated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesZebrafish models of collagen VI-related myopathiesMonoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies.Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors.Therapy of collagen VI-related myopathies (Bethlem and Ullrich).Protein defects in neuromuscular diseases.ColVI myopathies: where do we stand, where do we go?Cyclosporine A in Ullrich congenital muscular dystrophy: long-term resultsMitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsAltered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null miceCritical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathiesDiscovery, Synthesis, and Optimization of Diarylisoxazole-3-carboxamides as Potent Inhibitors of the Mitochondrial Permeability Transition Pore.Respiratory involvement in inherited primary muscle conditions.The congenital muscular dystrophies: recent advances and molecular insights.Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.Cell-matrix interactions in muscle disease.Autophagy in skeletal muscle homeostasis and in muscular dystrophiesUllrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation.Early onset collagen VI myopathies: Genetic and clinical correlations.Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
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P2860
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
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2002 nî lūn-bûn
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年學術文章
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Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
@en
Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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prefLabel
Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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P2093
P50
P1476
Bethlem myopathy (BETHLEM) and ...... 001, Naarden, The Netherlands.
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P2093
Anneke van der Kooi
Caroline Sewry
Ikuya Nonaka
Kate Bushby
Marianne de Visser
Paolo Bonaldo
Patrizia Sabatelli
P304
P356
10.1016/S0960-8966(02)00139-6
P50
P577
2002-12-01T00:00:00Z