Pages that link to "Q56608474"
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The following pages link to Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems (Q56608474):
Displaying 30 items.
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy (Q24561893) (← links)
- Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI (Q24629650) (← links)
- Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies (Q24647603) (← links)
- Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy (Q28239618) (← links)
- Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts (Q33834776) (← 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)
- The floppy infant: contribution of genetic and metabolic disorders (Q35226294) (← links)
- Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins (Q35612416) (← links)
- Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies (Q35903229) (← links)
- Natural history of pulmonary function in collagen VI-related myopathies (Q37383472) (← links)
- Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (Q37426320) (← links)
- Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy (Q37499822) (← links)
- Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives (Q37528083) (← links)
- The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
- Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (Q38221009) (← links)
- Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) (← links)
- A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie) (Q40059941) (← links)
- Two novel COLVI long chains in zebrafish that are essential for muscle development. (Q40547943) (← links)
- Congenital muscular dystrophies: 1997 update (Q41739772) (← links)
- Arthrogryposis multiplex congenita: spectrum of pathologic changes (Q44232431) (← links)
- Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands (Q44239703) (← links)
- Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy (Q44996024) (← links)
- Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation (Q48224272) (← links)
- Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study (Q50056255) (← links)
- Neurologic conditions in the neonatal period. Diagnosis and management. (Q51302441) (← links)
- Pathological characteristics of skeletal muscle in Ullrich's disease with collagen VI deficiency. (Q52102767) (← links)
- Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. (Q53489453) (← links)
- Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes (Q57334320) (← links)
- Specific inhibition of nonsense-mediated mRNA decay components, SMG-1 or Upf1, rescues the phenotype of ullrich disease fibroblasts (Q58323613) (← links)
- Experimental clubfoot and arthrogryposis multiplex congenita (Q79379382) (← links)