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Last Updated: 10/31/2025
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Found 371 publications
Neuroglial Pathophysiology of Leukodystrophies.
Journal: Advances in neurobiology
Published: June 11, 2025
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Journal: Human gene therapy
Published: April 21, 2025
Treatment of leukodystrophies: Advances and challenges.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: January 16, 2025
Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease.
Journal: Pediatric neurology
Published: December 07, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Journal: Human gene therapy
Published: December 04, 2024
Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.
Journal: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Published: June 11, 2024
Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.
Journal: Biochimica et biophysica acta. Proteins and proteomics
Published: June 05, 2024
Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease.
Journal: Experimental animals
Published: March 27, 2024
Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease.
Journal: Molecular genetics and metabolism
Published: February 29, 2024
Last Updated: 10/31/2025