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
Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.
Weiß M et al.
Human Gene Therapy, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.
Poddar NK et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2024
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.
Yalcintepe S et al.
Molecular Syndromology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 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
Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases.
Feng L et al.
Iscience, 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
Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene.
Chao J et al.
Iscience, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Feng L et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.
Froukh T
Biomed Research International, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 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
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.
Merrill ST et al.
Orphanet Journal of Rare Diseases, 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
An atypical case of Canavan disease with stroke-like presentation.
Delaney KE et al.
Pediatric Neurology, 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
[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
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 missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.
Hussain R et al.
Molecular Biology Reports, 2012