Pages that link to "Q28142532"

The following pages link to Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures (Q28142532):

Displaying 47 items.

• Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI (Q24629650) (← links)
• Collagen VI related muscle disorders (Q24673264) (← links)
• A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish (Q27301818) (← links)
• A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) (← links)
• Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (Q30478574) (← links)
• Mechanical and electrophysiological properties of the sarcolemma of muscle fibers in two murine models of muscle dystrophy: col6a1-/- and mdx (Q33781306) (← links)
• Zebrafish models of collagen VI-related myopathies (Q33878282) (← links)
• New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype (Q33905203) (← links)
• Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. (Q34145035) (← links)
• The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← 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)
• Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency. (Q34599342) (← links)
• Transcriptional profiling identifies differentially expressed genes in developing turkey skeletal muscle (Q34699066) (← links)
• Genetic diseases of muscle (Q34997853) (← links)
• The floppy infant: contribution of genetic and metabolic disorders (Q35226294) (← links)
• ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
• Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (Q36153344) (← links)
• Respiratory involvement in inherited primary muscle conditions (Q36596271) (← links)
• COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy (Q36850304) (← links)
• Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy (Q36856928) (← links)
• Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis (Q37345612) (← 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)
• Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies (Q37446660) (← links)
• Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial (Q37520725) (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
• The collagenopathies: review of clinical phenotypes and molecular correlations (Q38171408) (← links)
• Understanding the molecular consequences of inherited muscular dystrophies: advancements through proteomic experimentation. (Q38850056) (← links)
• Autosomal recessive inheritance of classic Bethlem myopathy (Q41809708) (← links)
• Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations (Q43798580) (← links)
• Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands (Q44239703) (← 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)
• Collagen VI Null Mice as a Model for Early Onset Muscle Decline in Aging. (Q47428333) (← links)
• Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome (Q48302894) (← links)
• Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum (Q50223887) (← links)
• Recurrent pneumothoraces associated with nocturnal noninvasive ventilation in a patient with muscular dystrophy. (Q51711051) (← 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)
• (Q56609108) (redirect page) (← links)
• Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts (Q57006982) (← links)
• Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes (Q57334320) (← links)
• Evidence of polygenic adaptation to high altitude from Tibetan and Sherpa genomes (Q58596551) (← links)
• The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach (Q73739715) (← links)
• A new distal arthrogryposis syndrome characterized by plantar flexion contractures (Q79356688) (← links)
• Myopathies with early contractures (Q82029853) (← links)
• Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7 (Q92095446) (← links)