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UnknownNEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Not available
S-EPMC12319130 | biostudies-literature
UnknownThick and thin filament gene mutations in striated muscle diseases.
Not available
S-EPMC2635722 | biostudies-literature
UnknownMyosinopathies: pathology and mechanisms.
Not available
S-EPMC3535372 | biostudies-literature
UnknownPhenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.
Not available
S-EPMC3769345 | biostudies-literature
UnknownExpression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.
Not available
S-EPMC3549291 | biostudies-literature
UnknownMyosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.
Not available
S-EPMC5268365 | biostudies-literature
UnknownTruncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
Not available
S-EPMC4886457 | biostudies-literature
UnknownAutosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.
Not available
S-EPMC18967 | biostudies-literature
UnknownAtaxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.
Not available
S-EPMC6283458 | biostudies-literature
UnknownDrosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.
Not available
S-EPMC6048496 | biostudies-literature
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