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UnknownDifferential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Not available
S-EPMC10996755 | biostudies-literature
UnknownDifferential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.
Not available
S-EPMC11525221 | biostudies-literature
UnknownGene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
Not available
S-EPMC7878489 | biostudies-literature
UnknownSingle-cell transcriptomic analysis of the identity and function of fibro/adipogenic progenitors in healthy and dystrophic muscle.
Not available
S-EPMC10432818 | biostudies-literature
UnknownA long-read RNA-seq approach to identify novel transcripts of very large genes.
Not available
S-EPMC7370890 | biostudies-literature
UnknownBET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
Not available
S-EPMC8649873 | biostudies-literature
UnknownAllele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Not available
S-EPMC11338111 | biostudies-literature
UnknownBET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
Not available
S-SCDT-EMM-2020-13787 | biostudies-other
UnknownTranscriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.
Not available
S-EPMC8607456 | biostudies-literature
UnknownA selective thyroid hormone β receptor agonist enhances human and rodent oligodendrocyte differentiation.
Not available
S-EPMC4107024 | biostudies-literature
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