about
Congenital muscular dystrophies: a brief reviewDiagnostic approach to the congenital muscular dystrophies.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 myopathiesWhole-genome sequencing and the clinician: a tale of two citiesThe 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 dystrophySarcopenia and sarcopenic obesity in patients with muscular dystrophy.Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies.Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy.Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Correlated mRNAs and miRNAs from co-expression and regulatory networks affect porcine muscle and finally meat properties.Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathiesAberrant 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?Cyclosporine A in Ullrich congenital muscular dystrophy: long-term resultsExpression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.Flow cytometry analysis: a quantitative method for collagen VI deficiency screeningBethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosisNatural history of pulmonary function in collagen VI-related myopathiesLarge genomic deletions: a novel cause of Ullrich congenital muscular dystrophyThe collagen VI-related myopathies: muscle meets its matrix.Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Early onset collagen VI myopathies: Genetic and clinical correlations.Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.Bethlem myopathy in a Portuguese patient - case report.Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Autosomal recessive Bethlem myopathy.
@ast
Autosomal recessive Bethlem myopathy.
@en
type
label
Autosomal recessive Bethlem myopathy.
@ast
Autosomal recessive Bethlem myopathy.
@en
prefLabel
Autosomal recessive Bethlem myopathy.
@ast
Autosomal recessive Bethlem myopathy.
@en
P2093
P50
P1433
P1476
Autosomal recessive Bethlem myopathy.
@en
P2093
A Franchella
A Urciuolo
F Gualandi
P Sabatelli
P304
P356
10.1212/WNL.0B013E3181C3FD2A
P407
P577
2009-12-01T00:00:00Z