Publications
93
Citations
2,710
Est. group size
—
Recurring co-author estimate
Active years
31
Publishing since 1996
Emily de los Reyes conducts clinical research focused on rare pediatric neurological disorders, particularly Batten disease (neuronal ceroid lipofuscinosis, a group of inherited disorders causing progressive nervous system damage in children) and related lysosomal storage disorders (conditions where cells cannot properly break down and recycle certain materials). Much of this work involves evaluating treatments like enzyme replacement therapy and developing tools to track disease progression and patient quality of life. This research area would suit students interested in rare disease clinical trials, natural history studies, and translational pediatric neurology.
Publication output peaked around 2020 with 13 papers and has since settled into a steadier, lower pace of roughly 5-6 papers per year in recent years.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Small-Fiber Neuropathy in an Adolescent With Prader-Willi Syndrome
Pediatric Neurology · 2026
- Development and preliminary analysis from the Batten disease CLN1 registry
Molecular Genetics and Metabolism · 2025
- New Insights into Batten Disease CLN1 from a Patient Facing Registry
medRxiv · 2025
- Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age
Molecular Genetics and Metabolism · 2024
- Exploring concurrent validity of the CLN2 Clinical Rating Scale: Comparison to PedsQL using cerliponase alfa clinical trial data
PLoS ONE · 2024
- Psychometric Validation of the CLN2 Quality of Life Questionnaire in Participants with CLN2 Disease Treated with Cerliponase Alfa
Healthcare · 2024
- Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series
Pediatric Neurology · 2023
- Cerliponase Alfa for the Treatment of CLN2 Disease in a Patient Cohort Including Children under 3 Years
Neuropediatrics · 2023
- Onset and evolution of symptoms in CLN8 disease
Molecular Genetics and Metabolism · 2022
- Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
Orphanet Journal of Rare Diseases · 2021
- Risperidone or Aripiprazole Can Resolve Autism Core Signs and Symptoms in Young Children: Case Study
Children · 2021
- Management of CLN1 Disease: International Clinical Consensus
Pediatric Neurology · 2021
- Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children younger than three years: Interim results from an ongoing clinical study
Molecular Genetics and Metabolism · 2021
- Precision Medicine in the 21st Century: The Personalized Approach to Rare Neurologic Disease
Seminars in Pediatric Neurology · 2021
- Comparing developmental outcomes of children with CLN2 disease receiving cerliponase alfa to a natural history cohort
Molecular Genetics and Metabolism · 2021
- Molecular Genetics and Metabolism×18
- Pediatric Neurology×10
- Neuropediatrics×4
- Journal of Child Neurology×3
- Seminars in Pediatric Neurology×2
- Michael Beck
Medicine · The Ohio State University
- Molly McPheron
Medicine · Indiana University
- Allison M. Bradbury
Medicine · The Ohio State University
- Mari Mori
Medicine · The Ohio State University
- Matthew Nichols
Medicine · The Ohio State University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 19, 2026.
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