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Page 1
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: calcinotto v. 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.