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

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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
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  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 185679056
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: <searchLink fieldCode="JN" term="%22Brain%3A+A+Journal+of+Neurology%22">Brain: A Journal of Neurology</searchLink>; May2025, Vol. 148 Issue 5, p1707-1722, 16p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=185679056
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        Value: 10.1093/brain/awae371
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      – Code: eng
        Text: English
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        PageCount: 16
        StartPage: 1707
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      – TitleFull: HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
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            – D: 01
              M: 05
              Text: May2025
              Type: published
              Y: 2025
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            – TitleFull: Brain: A Journal of Neurology
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