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Myotubes differentiate optimally on substrates with tissue-like stiffness
TLDR
Contractile myocytes provide a test of the hypothesis that cells sense their mechanical as well as molecular microenvironment, altering expression, organization, and/or morphology accordingly, and have major implications for in vivo introduction of stem cells into diseased or damaged striated muscle of altered mechanical composition. Expand
The collagen VI-related myopathies: muscle meets its matrix
TLDR
Optimize respiratory management, including noninvasive nocturnal ventilation together with careful orthopedic management, are the current mainstays of treatment and have already led to a considerable improvement in life expectancy for children with Ullrich congenital muscular dystrophy. Expand
De novo LMNA mutations cause a new form of congenital muscular dystrophy
TLDR
A new entity of congenital muscular dystrophies caused by de novo LMNA mutations is described, and it is proposed that this entity may represent a new type of dystrophy. Expand
Molecular Organization of Sarcoglycan Complex in Mouse Myotubes in Culture
TLDR
The proposed model of their interactions helps to explain some of the emerging data on the consequences of mutations in the individual sarcoglycans, their effect on the complex, and potentially the clinical course of muscular dystrophies. Expand
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
TLDR
This study represents a large systematic application of transcriptome sequencing to rare disease diagnosis and highlights its utility for the detection and interpretation of variants missed by current standard diagnostic approaches. Expand
β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
TLDR
The isolation of cDNAs encoding the 43 kD sarcoglycan protein β–sarcoglycan (A3b) and the localization of the human gene to chromosome 4q12 are reported and a young girl with ARMD with truncating mutations on both alleles is described. Expand
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
TLDR
FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment. Expand
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
TLDR
A novel laser microdissection/proteomics approach has helped identify both inherited and de novo mutations in FHL1, thereby defining a new X-linked protein aggregation disorder of muscle. Expand
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
TLDR
It is demonstrated that mutations in the gene encoding L MOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle. Expand
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset
TLDR
The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between Mmd and RSMD. Expand
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