Last Updated: 09/26/2026
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Found 9 publications
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Journal: Human gene therapy
Published: December 04, 2024
Psychometric properties of the Infantile Neuroaxonal Dystrophy Rating Scale.
Journal: Developmental medicine and child neurology
Published: November 16, 2024
The infantile neuroaxonal dystrophy rating scale (INAD-RS).
Journal: Orphanet journal of rare diseases
Published: April 24, 2020
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
Journal: Annals of neurology
Published: March 27, 2020
Poor nighttime sleep is positively associated with dyskinesia in Parkinson's disease patients.
Journal: Parkinsonism & related disorders
Published: May 29, 2017
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Journal: Human mutation
Published: December 17, 2015
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Last Updated: 09/26/2026