Associated Papers
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.
Nagy A et al.
Human Gene Therapy, 2024
Feline Spongy Encephalopathy With a Mutation in the ASPA Gene.
Takaichi Y et al.
Veterinary Pathology, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Bley A et al.
Orphanet Journal of Rare Diseases, 2021
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
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 case of Canavan disease with microcephaly.
Gowda VK et al.
Brain & Development, 2016
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.
Bijarnia S et al.
Indian Journal of Pediatrics, 2013
Long-term follow-up after gene therapy for canavan disease.
Leone P et al.
Science Translational Medicine, 2012
Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.
Sreevishnupriya K et al.
Science China. Life Sciences, 2012
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.
Cozzolino M et al.
Molecular Genetics and Metabolism, 2011
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Journal of Inherited Metabolic Disease, 2002
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
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Molecular Genetics and Metabolism, 0
Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.
Gowda VK et al.
Annals of Indian Academy of Neurology, 0