Core-rod Myopathy Due to a Novel Mutation in BTB/POZ Domain of KBTBD13 Manifesting As Late Onset LGMD
Overview
Authors
Affiliations
Nemaline Myopathy Type 6 Caused by Variants in the Gene: A Cross-Sectional Study of 24 Patients.
van Kleef E, Bouman K, Molenaar J, Kusters B, Groothuis J, Olive M Neurol Genet. 2024; 10(6):e200214.
PMID: 39651462 PMC: 11623396. DOI: 10.1212/NXG.0000000000200214.
BS148 Reduces the Aggressiveness of Metastatic Melanoma via Sigma-2 Receptor Targeting.
Sorbi C, Belluti S, Atene C, Marocchi F, Linciano P, Roy N Int J Mol Sci. 2023; 24(11).
PMID: 37298633 PMC: 10253401. DOI: 10.3390/ijms24119684.
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
Perry L, Stimpson G, Singh L, Morrow J, Shah S, Baranello G Ann Clin Transl Neurol. 2023; 10(7):1219-1229.
PMID: 37265148 PMC: 10351659. DOI: 10.1002/acn3.51816.
KBTBD13 is a novel cardiomyopathy gene.
de Winter J, Bouman K, Strom J, Methawasin M, Jongbloed J, van der Roest W Hum Mutat. 2022; 43(12):1860-1865.
PMID: 36335629 PMC: 10100581. DOI: 10.1002/humu.24499.
Ubiquitin ligases: guardians of mammalian development.
Cruz Walma D, Chen Z, Bullock A, Yamada K Nat Rev Mol Cell Biol. 2022; 23(5):350-367.
PMID: 35079164 DOI: 10.1038/s41580-021-00448-5.