Associated Papers
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Weiß M et al.
Human Gene Therapy, 2025
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.
Posern C et al.
Molecular Genetics and Metabolism, 2024
Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.
Grønbæk-Thygesen M et al.
Nature Communications, 2024
Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.
Grønbæk-Thygesen M et al.
Cell & Bioscience, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.
Kotambail A et al.
European Journal of Human Genetics : Ejhg, 2023
An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.
Irilouzadian R et al.
Sage Open Medical Case Reports, 2023
Severe retinal degeneration in a patient with Canavan disease.
Benson MD et al.
Ophthalmic Genetics, 2021
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.
Zhang H et al.
Brain & Development, 2010
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Unalp A et al.
Journal of Tropical Pediatrics, 2008
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Janson CG et al.
Annals of Neurology, 2006
Atypical MRI findings in Canavan disease: a patient with a mild course.
Yalcinkaya C et al.
Neuropediatrics, 2005
Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.
Surendran S et al.
Journal of Child Neurology, 2003