Last Updated: 09/26/2026
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Found 25 publications
Neuroradiological patterns and prognostic implications in type I Alexander disease.
Journal: Molecular genetics and metabolism
Published: March 16, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience.
Journal: Nucleic acids research
Published: January 28, 2026
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.
Journal: Journal of inherited metabolic disease
Published: December 19, 2025
Isolated Corticospinal Tract Lesions as an Early Manifestation of Adrenoleukodystrophy in Children.
Journal: Annals of the Child Neurology Society
Published: December 14, 2025
Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.
Journal: Journal of medical genetics
Published: November 11, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Journal: Molecular genetics and metabolism
Published: September 25, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Journal: Annals of the Child Neurology Society
Published: August 26, 2025
Genetic Testing History in Adults With Autism Spectrum Disorder.
Journal: Journal of autism and developmental disorders
Published: August 19, 2025
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Journal: Human gene therapy
Published: April 21, 2025
The Era of Gene Therapy, Newborn Screening, and Improved Management in the Leukodystrophies: A Shifting Framework With Altered Expectations.
Journal: Pediatric neurology
Published: April 18, 2025
Disease Burden in Female Patients With X-Linked Adrenoleukodystrophy.
Journal: Neurology
Published: February 07, 2025
Last Updated: 09/26/2026