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HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

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Bibliographic Details
Title: HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Authors: Dofash, Lein N H1, Miles, Lee B2, Saito, Yoshihiko3, Rivas, Eloy4, Calcinotto, Vanessa2, Oveissi, Sara2, Serrano, Rita J2, Templin, Rachel5, Ramm, Georg5, Rodger, Alison6, Haywood, Joel7, Ingley, Evan1, Clayton, Joshua S1, Taylor, Rhonda L1, Folland, Chiara L1, Groth, David8,9, Hock, Daniella H10,11,12, Stroud, David A10,11,12, Gorokhova, Svetlana13,14, Donkervoort, Sandra15
Source: Brain: A Journal of Neurology; May2025, Vol. 148 Issue 5, p1707-1722, 16p
Database: Applied Science & Technology Source
Description
ISSN:00068950
DOI:10.1093/brain/awae371