Pages that link to "Q51753135"

The following pages link to Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy. (Q51753135):

Displaying 19 items.

• 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)
• Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines (Q33865755) ‎ (← links)
• The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy (Q34178677) ‎ (← links)
• Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies (Q34266732) ‎ (← links)
• Sarcopenia and sarcopenic obesity in patients with muscular dystrophy (Q34299706) ‎ (← links)
• A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer (Q34521706) ‎ (← links)
• Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies (Q35046733) ‎ (← links)
• Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis (Q35086962) ‎ (← links)
• ColVI myopathies: where do we stand, where do we go? (Q35290709) ‎ (← links)
• Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial (Q37520725) ‎ (← links)
• Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies (Q39040304) ‎ (← links)
• Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy (Q39634474) ‎ (← links)
• Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975) ‎ (← links)
• Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy (Q42412623) ‎ (← links)
• Macrophages: a minimally invasive tool for monitoring collagen VI myopathies (Q44500645) ‎ (← links)
• MKLN1 splicing defect in dogs with lethal acrodermatitis. (Q51732322) ‎ (← links)
• Examining the Genetic Background of Porcine Muscle Growth and Development Based on Transcriptome and miRNAome Data. (Q52719144) ‎ (← 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)