Last Updated: 09/26/2026
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Found 15 publications
Pearls & Oy-sters: Radiologic Lag in Pediatric-Onset Multiple Sclerosis.
Journal: Neurology
Published: June 19, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).
Journal: Molecular genetics and metabolism
Published: December 16, 2025
Pediatric acquired demyelinating syndromes: updates in diagnosis, testing, and management.
Journal: Current opinion in pediatrics
Published: November 07, 2024
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy.
Journal: Molecular genetics and metabolism
Published: June 24, 2024
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Journal: Journal of medical genetics
Published: February 16, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Journal: Pediatric neurology
Published: November 08, 2022
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Journal: Pediatric neurology
Published: November 01, 2022
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Journal: Child neurology open
Published: May 13, 2021
Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.
Journal: Journal of child neurology
Published: July 29, 2020
Last Updated: 09/26/2026