A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
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Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyCongenital muscular dystrophies: a brief reviewTranscriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular RegulatorsDiagnostic approach to the congenital muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.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.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.The expanded collagen VI family: new chains and new questionsTherapy of collagen VI-related myopathies (Bethlem and Ullrich).Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.ColVI myopathies: where do we stand, where do we go?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.Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityFlow cytometry analysis: a quantitative method for collagen VI deficiency screeningSuccessful heart transplantation from a donor with Ullrich congenital muscular dystrophy.Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.The collagen VI-related myopathies: muscle meets its matrix.siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.Cell-matrix interactions in muscle disease.Skin biopsy: a new tool to diagnose sarcoglycanopathy.Early onset collagen VI myopathies: Genetic and clinical correlations.Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis.Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.Authentication of collagen VI antibodiesDetecting collagen VI in Bethlem myopathy.Dystrophinopathy diagnosis made easy: skin biopsy, an emerging novel tool.Dermal ultrastructure in collagen VI myopathy.Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.Extracellular Collagen VI Has Prosurvival and Autophagy Instructive Properties in Mouse Fibroblasts
P2860
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P2860
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
description
article
@en
im Oktober 2006 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в жовтні 2006
@uk
name
A comparative analysis of coll ...... and recessive COL6A mutations
@en
A comparative analysis of coll ...... and recessive COL6A mutations
@nl
type
label
A comparative analysis of coll ...... and recessive COL6A mutations
@en
A comparative analysis of coll ...... and recessive COL6A mutations
@nl
prefLabel
A comparative analysis of coll ...... and recessive COL6A mutations
@en
A comparative analysis of coll ...... and recessive COL6A mutations
@nl
P2093
P50
P1476
A comparative analysis of coll ...... and recessive COL6A mutations
@en
P2093
C Bonnemann
M A Maioli
P304
P356
10.1016/J.NMD.2006.07.015
P577
2006-08-28T00:00:00Z