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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
TLDR
Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms. Expand
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
TLDR
It is demonstrated for the first time that myotubularin functions to regulate PI3P levels in a vertebrate in vivo, and that homologous myotubbularin-related proteins can functionally compensate for the loss of myotUBularin. Expand
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
TLDR
The type of mutation in the CAPN3 gene does not appear to be a risk factor for becoming dependent on a wheelchair at a determined age, and in the cases with two null mutations, there were significantly fewer patients that were able to walk than in the group of patients with at least one missense mutation. Expand
Zebrafish models of collagen VI-related myopathies
TLDR
Zebrafish models of the collagen VI myopathies are generated, successfully generating the first vertebrate model matching the clinical severity of UCMD and it is demonstrated that CsA provides phenotypic improvement, thus corroborating data from knockout mice supporting the use of mitochondrial permeability transition pore modifiers as therapeutics in patients and providing proof of principle for the utility of the zebrafish as a powerful preclinical model. Expand
A refined diagnostic algorithm for Bethlem myopathy
TLDR
Immunofluorescent labeling of collagen VI in fibroblast cultures is a useful addition to current diagnostic services for Bethlem myopathy and can be used to guide molecular genetic testing, the gold standard diagnostic technique for BM, in a cost-effective and time-saving manner. Expand
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
TLDR
The data supports the uniform hypermutability of CGA>TGA mutations, establishes the frequency of polymorphic muscle (Dp427m) protein isoforms and reveals unique genomic haplotypes associated with “private” mutations. Expand
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy
TLDR
The results suggest that muscle MR may be used, as an additional tool, to identify patients with collagen VI related disorders. Expand
Genotype-phenotype correlations in recessive RYR1-related myopathies
TLDR
The results support a hypothesis that loss of protein function is a key predictive disease parameter and suggest that decreased RyR1 expression may dictate non-core related pathology though, data on protein expression was limited and should be confirmed in a larger cohort. Expand
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
TLDR
The results suggest that some UCMD patients may have dominantly acting mutations rather than recessive disease, and may explain some or all of the cases of UCMD that are unlinked to the COL6 loci under a recessive model. Expand
Nonsense mutation‐associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene
TLDR
A new model based on the combination of exon definition and intronic splicing regulatory elements for the selective association of BMD nonsense mutations with a subset of DMD exons prone to mutation‐induced exon skipping is presented. Expand
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