Last Updated: 09/26/2026
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Found 85 publications
Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD.
Journal: medRxiv : the preprint server for health sciences
Published: July 10, 2026
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
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD).
Journal: Molecular genetics and metabolism
Published: December 16, 2025
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies.
Journal: Molecular genetics and metabolism
Published: December 09, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Journal: Annals of the Child Neurology Society
Published: August 26, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Journal: Neurology
Published: June 27, 2025
A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).
Journal: Molecular genetics and metabolism
Published: June 18, 2025
Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).
Journal: Molecular genetics and metabolism
Published: June 03, 2025
Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.
Journal: Journal of child neurology
Published: May 22, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families.
Journal: Journal of child neurology
Published: May 14, 2025
Last Updated: 09/26/2026