sameAs
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyNovel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophyTranscriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular RegulatorsAutomated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.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 dystrophyNutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy.Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors.Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.Cyclosporine A in Ullrich congenital muscular dystrophy: long-term resultsMitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporinsTeaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophySuccessful heart transplantation from a donor with Ullrich congenital muscular dystrophy.Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophyNatural history of Ullrich congenital muscular dystrophy.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.Perioperative care of a child with Ullrich congenital muscular dystrophy.Altered threshold of the mitochondrial permeability transition pore in Ullrich congenital muscular dystrophy.Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study.Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.Ullrich congenital muscular dystrophy: report of nine cases from India.[Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis].A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.Moderately progressive Ullrich congenital muscular dystrophyEM.P.5.01 Gene expression and proteome profiles in Col6a1−/− mice, a model of Ullrich congenital muscular dystrophy (UCMD)Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromesVariable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy familiesDominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophyA comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
P921
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P5166
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P921
description
Krankheit
@de
Ullrich congenital muscular dy ...... joints and normal intelligence
@en
distrofia muscolare grave cara ...... erelasticità di quelle distali
@it
maladie génétique musculaire d ...... A3 codant le collagène type VI
@fr
مرض يصيب الإنسان
@ar
name
Ullrich congenital muscular dystrophy
@en
Ullrich congenital muscular dystrophy
@nl
distrofia muscolare congenita di Ullrich
@it
distrofia muscular congénita de Ullrich
@es
dystrophie congénitale musculaire d'Ullrich
@fr
kongenitale Muskeldystrophie Typ Ullrich
@de
type
label
Ullrich congenital muscular dystrophy
@en
Ullrich congenital muscular dystrophy
@nl
distrofia muscolare congenita di Ullrich
@it
distrofia muscular congénita de Ullrich
@es
dystrophie congénitale musculaire d'Ullrich
@fr
kongenitale Muskeldystrophie Typ Ullrich
@de
altLabel
Congenital muscular dystrophy, Ullrich type
@en
Distrofia muscolare di Ullrich
@it
Dystrophie Congénitale Musculaire D'Ullrich
@fr
Dystrophie congenitale musculaire d'Ullrich
@fr
Dystrophie congénitale musculaire d'ullrich
@fr
Scleroatonic Ullrich Disease
@en
Scleroatonic muscular dystrophy
@en
UCMD
@en
UCMD
@es
UCMD
@it
prefLabel
Ullrich congenital muscular dystrophy
@en
Ullrich congenital muscular dystrophy
@nl
distrofia muscolare congenita di Ullrich
@it
distrofia muscular congénita de Ullrich
@es
dystrophie congénitale musculaire d'Ullrich
@fr
kongenitale Muskeldystrophie Typ Ullrich
@de
P2293
P279
P2888
P31
P492
P6366
P1325
P138
P1550
P1748
P2892
P4229
P5270
MONDO:0000355
P6366
2777528758
P668
P699
DOID:0050558