
Investigación y educación

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Neurología
"Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279* Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings. Mol Neurobiol. 2022 Jun;59(6):3845-3858. Epub 2022"
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Neurología
Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics-Molecular Mechanics Framework. Brain Sci. 2022 Jun
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Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review. Eur J Neurol.
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