Last Updated: 09/26/2026
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Found 30 publications
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.
Journal: medRxiv : the preprint server for health sciences
Published: June 05, 2026
Finding comfort in complexity: The role of palliative care in children with leukodystrophy.
Journal: Molecular genetics and metabolism
Published: January 31, 2026
The Impact of RNA Polymerase III-Related Leukodystrophy on Nonaffected Family Members: A Qualitative Study.
Journal: Pediatric neurology
Published: August 27, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Journal: Annals of the Child Neurology Society
Published: August 26, 2025
Risk of Seizures and Epilepsy in the Leukodystrophies.
Journal: Pediatric neurology
Published: August 18, 2025
Large-scale experimental assessment of coyote behavior across urban and rural landscapes.
Journal: Scientific reports
Published: August 05, 2025
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Journal: HGG advances
Published: April 18, 2025
Peripheral Neuropathy as an Early Marker in Newborn-Screened Krabbe Disease: The Value of Pre-Confirmatory Neurophysiological Testing.
Journal: Journal of the peripheral nervous system : JPNS
Published: April 01, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 16, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.
Journal: Journal of child neurology
Published: October 21, 2024
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System.
Journal: Pediatric neurology
Published: October 08, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data.
Journal: Molecular genetics and metabolism
Published: May 29, 2024
Last Updated: 09/26/2026