Associated Papers
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Mancini C et al.
Neurobiology of Disease, 2019
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.
Szpisjak L et al.
Cerebellum (london, England), 2017
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Colavito D et al.
Biomedical Reports, 2017
A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.
Musova Z et al.
Cerebellum (london, England), 2014
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