Pages that link to "Q55671360"
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The following pages link to Autosomal recessive myosclerosis myopathy is a collagen VI disorder (Q55671360):
Displaying 50 items.
- Physical exercise stimulates autophagy in normal skeletal muscles but is detrimental for collagen VI-deficient muscles (Q24629897) (← links)
- A Comprehensive View of the Structural and Functional Alterations of Extracellular Matrix by Snake Venom Metalloproteinases (SVMPs): Novel Perspectives on the Pathophysiology of Envenoming (Q28077573) (← links)
- Congenital muscular dystrophies: a brief review (Q28255519) (← links)
- A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16 (Q28505521) (← 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)
- Extracellular matrix molecules: potential targets in pharmacotherapy. (Q33694487) (← links)
- Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (Q33744396) (← links)
- Zebrafish models of collagen VI-related myopathies (Q33878282) (← links)
- Col6a1 null mice as a model to study skin phenotypes in patients with collagen VI related myopathies: expression of classical and novel collagen VI variants during wound healing (Q34089837) (← links)
- The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) (← links)
- Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy (Q34236492) (← links)
- Sarcopenia and sarcopenic obesity in patients with muscular dystrophy (Q34299706) (← links)
- Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. (Q34338854) (← links)
- The expanded collagen VI family: new chains and new questions (Q34358567) (← links)
- Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. (Q34529706) (← 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)
- Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report (Q34759706) (← links)
- Therapy of collagen VI-related myopathies (Bethlem and Ullrich). (Q34883830) (← links)
- Correlated mRNAs and miRNAs from co-expression and regulatory networks affect porcine muscle and finally meat properties (Q34894895) (← links)
- Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Q35046733) (← links)
- Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (Q35080325) (← 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)
- Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice (Q35842479) (← links)
- Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis (Q35859674) (← links)
- An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia (Q35896989) (← 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)
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies (Q36153344) (← links)
- Collagen VI deficiency reduces muscle pathology, but does not improve muscle function, in the γ-sarcoglycan-null mouse (Q36676817) (← links)
- Flow cytometry analysis: a quantitative method for collagen VI deficiency screening (Q36852826) (← links)
- Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy (Q36856928) (← 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)
- Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial (Q37520725) (← links)
- Consensus statement on standard of care for congenital muscular dystrophies (Q37552615) (← links)
- The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
- Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies (Q37613885) (← links)
- Cyclophilin D in mitochondrial pathophysiology (Q37660604) (← links)
- The collagenopathies: review of clinical phenotypes and molecular correlations (Q38171408) (← links)
- Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s). (Q38221009) (← links)
- The neuromuscular differential diagnosis of joint hypermobility (Q38395355) (← links)
- Extracellular matrix biomimicry for the creation of investigational and therapeutic devices (Q38520155) (← links)
- Costamere proteins and their involvement in myopathic processes. (Q38531654) (← links)
- Heterogeneity of Collagen VI Microfibrils: STRUCTURAL ANALYSIS OF NON-COLLAGENOUS REGIONS. (Q38771279) (← links)
- Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) (← links)
- Autosomal recessive inheritance of classic Bethlem myopathy (Q41809708) (← links)
- Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging (Q41883614) (← links)
- Authentication of collagen VI antibodies (Q42183234) (← links)
- Detecting collagen VI in Bethlem myopathy. (Q43195444) (← links)