Associated Papers
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.
Dominguez Gonzalez CA et al.
Neurology. Genetics, 2025
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A case of juvenile Canavan disease with distinct pons involvement.
Çakar NE et al.
Brain & Development, 2020
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Ashrafi M et al.
Iranian Journal of Child Neurology, 2015
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
Wijayasinghe YS et al.
Biochemistry, 2014
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Hussain R et al.
Molecular Biology Reports, 2012
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Unalp A et al.
Journal of Tropical Pediatrics, 2008
Mutational analysis of aspartoacylase: implications for Canavan disease.
Hershfield JR et al.
Brain Research, 2007
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Janson CG et al.
Annals of Neurology, 2006
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
Tacke U et al.
Neuropediatrics, 2005
Molecular basis of Canavan's disease: from human to mouse.
Surendran S et al.
Journal of Child Neurology, 2003
Spongy degeneration of the brain, Canavan disease: biochemical and molecular findings.
Matalon RM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2000
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Elpeleg ON et al.
Journal of Inherited Metabolic Disease, 1999
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
Shaag A et al.
American Journal of Human Genetics, 1995