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HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Brain. 2025 May 13;148(5):1707-1722. doi: 10.1093/brain/awae371.
Brain. 2025.
PMID: 39531736
CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit.
Miles LB, Calcinotto V, Oveissi S, Serrano RJ, Sonntag C, Mulia O, Lee C, Bryson-Richardson RJ.
Miles LB, et al. Among authors: calcinotto v.
Nat Commun. 2024 Jun 12;15(1):5011. doi: 10.1038/s41467-024-49341-7.
Nat Commun. 2024.
PMID: 38866742
Free PMC article.
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Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish model.
McKaige EA, Lee C, Calcinotto V, Giri S, Crawford S, McGrath MJ, Ramm G, Bryson-Richardson RJ.
McKaige EA, et al. Among authors: calcinotto v.
Hum Mol Genet. 2024 Jul 6;33(14):1195-1206. doi: 10.1093/hmg/ddae061.
Hum Mol Genet. 2024.
PMID: 38621658
Free PMC article.
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Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.
Serrano RJ, Oorschot V, Palipana D, Calcinotto V, Sonntag C, Ramm G, Bryson-Richardson RJ.
Serrano RJ, et al. Among authors: calcinotto v.
Brain Commun. 2023 Nov 20;5(6):fcad317. doi: 10.1093/braincomms/fcad317. eCollection 2023.
Brain Commun. 2023.
PMID: 38046095
Free PMC article.
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