Pages that link to "Q39823975"

The following pages link to Early onset collagen VI myopathies: Genetic and clinical correlations (Q39823975):

Displaying 39 items.

• Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy (Q28239618) (← 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)
• Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← 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)
• 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)
• 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)
• Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia (Q35689799) (← 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)
• Novel pathogenic variants and genes for myopathies identified by whole exome sequencing (Q35907744) (← links)
• Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan (Q36275198) (← links)
• A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy (Q36383108) (← links)
• "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies (Q37157908) (← links)
• Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy (Q37195164) (← links)
• Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis (Q37345612) (← links)
• Natural history of pulmonary function in collagen VI-related myopathies (Q37383472) (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
• Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations (Q37618496) (← links)
• siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy (Q37631970) (← links)
• Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy (Q37632993) (← links)
• Cell-matrix interactions in muscle disease (Q37944530) (← links)
• The ever-expanding spectrum of congenital muscular dystrophies (Q38029277) (← 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)
• Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders (Q40675087) (← links)
• Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy (Q41191227) (← links)
• Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy (Q41590349) (← links)
• Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea. (Q42646168) (← links)
• Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy (Q44996024) (← links)
• Collagen VI Null Mice as a Model for Early Onset Muscle Decline in Aging. (Q47428333) (← links)
• Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum (Q50223887) (← links)
• Type VI Collagen Regulates Dermal Matrix Assembly and Fibroblast Motility. (Q51563382) (← links)
• Immunodetection analysis of muscular dystrophies in Mexico. (Q54529815) (← links)
• Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (Q54690359) (← links)
• A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies (Q64066318) (← links)
• COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report (Q64099330) (← links)
• Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy. (Q64974654) (← links)