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Brain Communications|December 4, 2023
Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalitiesRita J Serrano, Viola Oorschot, Dashika Palipana, et al.
Nature Communications|June 12, 2024
CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkitLee B Miles, Vanessa Calcinotto, Sara Oveissi, et al.
Human Molecular Genetics|April 15, 2024
Mitochondrial abnormalities contribute to muscle weakness in a Dnajb6 deficient zebrafish modelEmily A McKaige, Clara Lee, Vanessa Calcinotto, et al.
Brain : a Journal of Neurology|November 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal modelLein N H Dofash, Lee B Miles, Yoshihiko Saito, et al.
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