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Palabras clave – provistas por la editorial

polymicrogyria; n/a; neurodegenerative disease; next generation sequencing (NGS); inborn error of metabolism; genetic biomarker; deep learning; TUBA1A; Alzheimer’s disease (AD); ataxia; risk prediction; p.(Arg2His); movement science; tubulin; R2H; diagnosis; machine learning; metal storage disorders; amyotrophic lateral sclerosis (ALS); glucocerebrosidase; Parkinsonism; cerebellar hypoplasia; Gaucher disease; disease phenotyping; tubulinopathy; Parkinson’s disease (PD); dementia; Parkinson’s disease