Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings.
Aguillon D, Vasquez D, Madrigal L, Moreno S, Hernández D, Isaza-Ruget M, Lopez JJ, Landires I, Nuñez-Samudio V, Restrepo CM, Vidal OM, Vélez JI, Arcos-Holzinger M, Lopera F, Arcos-Burgos M.
Aguillon D, et al.
Mol Neurobiol. 2022 Jun;59(6):3845-3858. doi: 10.1007/s12035-022-02821-7. Epub 2022 Apr 14.
Mol Neurobiol. 2022.
PMID: 35420381