Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 3
Results: 7
Morphological and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 233, doi. 10.1093/hmg/ddad183
- By:
- Publication type:
- Article
snRNA-seq analysis in multinucleated myogenic FSHD cells identifies heterogeneous FSHD transcriptome signatures associated with embryonic-like program activation and oxidative stress-induced apoptosis.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 284, doi. 10.1093/hmg/ddad186
- By:
- Publication type:
- Article
The progranulin cleavage product granulin 3 exerts a dominant negative effect on animal fitness.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 245, doi. 10.1093/hmg/ddad184
- By:
- Publication type:
- Article
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 224, doi. 10.1093/hmg/ddad181
- By:
- Publication type:
- Article
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 254, doi. 10.1093/hmg/ddad178
- By:
- Publication type:
- Article
Three linked variants have opposing regulatory effects on isovaleryl-CoA dehydrogenase gene expression.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 270, doi. 10.1093/hmg/ddad177
- By:
- Publication type:
- Article
Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 211, doi. 10.1093/hmg/ddad173
- By:
- Publication type:
- Article