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
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 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.
Posern C et al.
Molecular Genetics and Metabolism, 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
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.
Tan IL et al.
Cell Reports, 2023
Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases.
Feng L et al.
Iscience, 2023
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Corti M et al.
Molecular Therapy. Methods & Clinical Development, 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
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
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
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Leung ML et al.
The Journal of Molecular Diagnostics : Jmd, 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
Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.
Crawford DC et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2020
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
Mendes MI et al.
Human Mutation, 2017
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Atypical clinical and radiological course of a patient with Canavan disease.
Sarret C et al.
Metabolic Brain Disease, 2016
Canavan disease - unusual imaging features in a child with mild clinical presentation.
Nguyen HV et al.
Pediatric Radiology, 2015
A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Ashrafi M et al.
Iranian Journal of Child Neurology, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
Tanner AK et al.
The Journal of Molecular Diagnostics : Jmd, 2014
[Megalencephaly with dystonia revealing Canavan disease].
Maaloul I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2013
Relationship between enzyme properties and disease progression in Canavan disease.
Zano S et al.
Journal of Inherited Metabolic Disease, 2013
High-throughput carrier screening using TaqMan allelic discrimination.
Fedick A et al.
Plos One, 2013
Leukodystrophies with astrocytic dysfunction.
Rodriguez D
Handbook of Clinical Neurology, 2013
Acetate supplementation induces growth arrest of NG2/PDGFRα-positive oligodendroglioma-derived tumor-initiating cells.
Long PM et al.
Plos One, 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
A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
Durmaz AA et al.
Fetal and Pediatric Pathology, 2012
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH et al.
Genetic Counseling (geneva, Switzerland), 2012
A safety trial of high dose glyceryl triacetate for Canavan disease.
Segel R et al.
Molecular Genetics and Metabolism, 2011
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.
Zhang H et al.
Brain & Development, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Scott SA et al.
Human Mutation, 2010
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Kaya N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Unalp A et al.
Journal of Tropical Pediatrics, 2008
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database.
Zlotogora J et al.
Human Mutation, 2007
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.
Herga S et al.
Febs Letters, 2006
Canavan disease: studies on the knockout mouse.
Matalon R et al.
Advances in Experimental Medicine and Biology, 2006
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
Zeng BJ et al.
Advances in Experimental Medicine and Biology, 2006
Canavan disease: a white matter disorder.
Kumar S et al.
Mental Retardation and Developmental Disabilities Research Reviews, 2006
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.
Feigenbaum A et al.
American Journal of Medical Genetics. Part A, 2004