about
Congenital muscular dystrophies: a brief reviewDiagnostic approach to the congenital muscular dystrophies.The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.Therapy of collagen VI-related myopathies (Bethlem and Ullrich).Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathiesFrom proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies.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.Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathiesFlow cytometry analysis: a quantitative method for collagen VI deficiency screeningBethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosisCollagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.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.The ever-expanding spectrum of congenital muscular dystrophies.Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy.Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.Autosomal recessive inheritance of classic Bethlem myopathy.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 Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.Bethlem myopathy in a Portuguese patient - case report.Inflammatory myopathy in a patient with collagen VI mutations
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
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2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
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2008年學術文章
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name
A refined diagnostic algorithm for Bethlem myopathy.
@en
A refined diagnostic algorithm for Bethlem myopathy.
@nl
type
label
A refined diagnostic algorithm for Bethlem myopathy.
@en
A refined diagnostic algorithm for Bethlem myopathy.
@nl
prefLabel
A refined diagnostic algorithm for Bethlem myopathy.
@en
A refined diagnostic algorithm for Bethlem myopathy.
@nl
P2093
P1433
P1476
A refined diagnostic algorithm for Bethlem myopathy.
@en
P2093
C Fiorillo
C G Bonnemann
R Charlton
P304
P356
10.1212/01.WNL.0000307749.66438.6D
P407
P577
2008-04-01T00:00:00Z