Pages that link to "Q44239703"
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The following pages link to Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands (Q44239703):
Displaying 36 items.
- Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies (Q24647603) (← links)
- Collagen VI related muscle disorders (Q24673264) (← links)
- Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (Q30478574) (← links)
- 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 myopathies (Q33543362) (← links)
- Zebrafish models of collagen VI-related myopathies (Q33878282) (← links)
- Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies (Q34266732) (← links)
- Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. (Q34338854) (← links)
- Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors (Q34547398) (← links)
- Therapy of collagen VI-related myopathies (Bethlem and Ullrich). (Q34883830) (← links)
- Protein defects in neuromuscular diseases (Q35114795) (← links)
- ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
- Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results (Q35418243) (← links)
- Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins (Q35612416) (← links)
- Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice (Q35842479) (← links)
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (Q36153344) (← links)
- Discovery, Synthesis, and Optimization of Diarylisoxazole-3-carboxamides as Potent Inhibitors of the Mitochondrial Permeability Transition Pore. (Q36358813) (← links)
- Respiratory involvement in inherited primary muscle conditions (Q36596271) (← links)
- The congenital muscular dystrophies: recent advances and molecular insights (Q36681282) (← links)
- Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity (Q37346820) (← links)
- Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (Q37426320) (← links)
- Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial (Q37520725) (← links)
- Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives (Q37528083) (← links)
- Cell-matrix interactions in muscle disease (Q37944530) (← links)
- Autophagy in skeletal muscle homeostasis and in muscular dystrophies (Q38202870) (← links)
- Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (Q38221009) (← links)
- Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation. (Q38850056) (← links)
- Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) (← links)
- Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy (Q44996024) (← links)
- Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy (Q46176595) (← links)
- NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. (Q47073612) (← links)
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. (Q53489453) (← links)
- Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (Q54690359) (← links)
- Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies (Q56987133) (← links)
- Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes (Q57334320) (← links)
- Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration (Q57639972) (← links)
- Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation (Q64285884) (← links)