Characterization of Childhood Neurodegeneration and Associated Ataxia in UBTF-Related Disorder
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Presenting Author - Amanda M. Nagy, MD; Co-Author - Anna Luddy, BS; Co-Author - Francine Molay, MSW, LICSW; Co-Author - Lizbeth De La Rosa Abreu, BS; Co-Author - Catherine Becker, NP; Co-Author - Anoopum Gupta, MD, PhD; Co-Author - Florian Eichler, MD;
Meta Tag
Brain/Nervous System
Clinical History
Cognitive Disorders
Natural History
Phenotype
Co-Author Anna Luddy, BS
Co-Author Francine Molay, MSW, LICSW
Co-Author Lizbeth De La Rosa Abreu, BS
Co-Author Catherine Becker, NP
Co-Author Anoopum Gupta, MD, PhD
Co-Author Florian Eichler, MD
Presenting Author Amanda M. Nagy, MD
Keywords
childhood-onset neurodegeneration
UBTF gene
developmental regression
movement disorders
epilepsy
wrist accelerometer
ankle accelerometer
Ataxia-Telangiectasia
motor activity data
motor biomarker

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