Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments.

Discovery of N-Acetyltransferase 8-Like (NAT8L) inhibitors based on a N-Acylated (Piperidin-3-ylmethyl)-1,2,4-Oxadiazole Scaffold.

Human iPSC-derived neural progenitor cells rescue motor function and brain pathology in symptomatic Canavan disease mice.

Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot.

Long-Read Sequencing Unveils an Intronic ASPA Retrotransposon Variant Implicated in Canavan Disease.

Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1/2 trial.

A genome-wide association study identifies Asian-specific genetic susceptibility for epigenetic age acceleration.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain Features.

Neuroglial Pathophysiology of Leukodystrophies.

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Case 336: Canavan Disease.

Treatment of leukodystrophies: Advances and challenges.

Deep Intronic SVA_E Retrotransposition as a Novel Factor in Canavan Disease Pathogenesis.

Neuroglia in leukodystrophies.

Progress in AAV-Mediated In Vivo Gene Therapy and Its Applications in Central Nervous System Diseases.

Feasibility, Acceptability, and Reliability of Remote Motor Assessment in Children With Canavan Disease.

Urine N-Acetylaspartate Distinguishes Phenotypes in Canavan Disease.

N-acetylaspartate mitigates pro-inflammatory responses in microglial cells by intersecting lipid metabolism and acetylation processes.

Amyloid-like Aggregation Propensities of Metabolites- Homogentisic Acid, N-Acetyl Aspartic Acid and Isovaleric Acid.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Neurosurgical gene therapy for central nervous system diseases.

Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease.

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease.

The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

LncRNA CRNDE promotes hepatoma cell proliferation by regulating the metabolic reprogramming of M2 macrophages via ERK pathway.

Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants.

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.

Cellular and molecular mechanisms of aspartoacylase and its role in Canavan disease.

Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies.

Myelin lesion in the aspartoacylase (Aspa) knockout rat, an animal model for Canavan disease.

Leukodystrophy Imaging: Insights for Diagnostic Dilemmas.

[Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].

Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.

Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy.

HIF1α-glycolysis engages activation-induced cell death to drive IFN-γ induction in hypoxic T cells.

N-acetyl-aspartate metabolism at the interface of cancer, immunity, and neurodegeneration.

NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model.

Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases.

Aspartic Acid in Health and Disease.

Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice.

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Virus-Based Biological Systems as Next-Generation Carriers for the Therapy of Central Nervous System Diseases.

Developing Hypoimmunogenic Human iPSC-Derived Oligodendrocyte Progenitor Cells as an Off-The-Shelf Cell Therapy for Myelin Disorders.

Renewal of oligodendrocyte lineage reverses dysmyelination and CNS neurodegeneration through corrected N-acetylaspartate metabolism.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Dual-function AAV gene therapy reverses late-stage Canavan disease pathology in mice.

Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.

On Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: Genomic signatures of a founder event.

Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Canavan disease].

Therapeutic development for Canavan disease using patient iPSCs introduced with the wild-type ASPA gene.

The pathogenesis of, and pharmacological treatment for, Canavan disease.

A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome.

Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

Ablating the Transporter Sodium-Dependent Dicarboxylate Transporter 3 Prevents Leukodystrophy in Canavan Disease Mice.

High Throughput Screening Cascade To Identify Human Aspartate N-Acetyltransferase (ANAT) Inhibitors for Canavan Disease.

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

The natural history of Canavan disease: 23 new cases and comparison with patients from literature.

Canavan Disease as a Model for Gene Therapy-Mediated Myelin Repair.

Mapping the degradation pathway of a disease-linked aspartoacylase variant.

Recent Advancements in the Diagnosis and Treatment of Leukodystrophies.

Engineering of a critical membrane-anchored enzyme for high solubility and catalytic activity.

Feline Spongy Encephalopathy With a Mutation in the ASPA Gene.

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene.

Preclinical biodistribution, tropism, and efficacy of oligotropic AAV/Olig001 in a mouse model of congenital white matter disease.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Severe retinal degeneration in a patient with Canavan disease.

Discovery of Novel Inhibitors of a Critical Brain Enzyme Using a Homology Model and a Deep Convolutional Neural Network.

Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions.

Structure of the Brain N-Acetylaspartate Biosynthetic Enzyme NAT8L Revealed by Computer Modeling.

Epilepsy in children with leukodystrophies.

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases.

Kinetic Modeling of the Blood Oxygenation Level Dependent (BOLD) Signals and Biocatalytic Reactions Observed in the Human Brain Using MRI: An Analysis of Normal and Pathological Conditions.

Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.

A case of juvenile Canavan disease with distinct pons involvement.

[Mild Canavan disease in a child].

Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.

Development of bisubstrate analog inhibitors of aspartate N-acetyltransferase, a critical brain enzyme.

Clinical MR spectroscopy of the brain.

First Record Mutations in the Genes ASPA and ARSA Causing Leukodystrophy in Jordan.

Pathophysiology and Treatment of Canavan Disease.

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Allosteric Control of N-Acetyl-Aspartate Hydrolysis by the Y231C and F295S Mutants of Human Aspartoacylase.

Juvenile Canavan Disease: A Leukodystrophy without White Matter Changes.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model.

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

White matter disease: Targeted aspartoacylase gene therapy reverts Canavan disease.

Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.

Canavan disease with typical brain MRI and MRS findings.

Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.

[MR spectroscopy in metabolic disorders of the brain].

Rescuing Canavan disease: engineering the wrong cell at the right time.

Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.

Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease.

Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease.

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience.

N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.

Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts directement aux consommateurs.

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.

Two patients with Canavan disease and structural modeling of a novel mutation.

Non-genetic therapeutic approaches to Canavan disease.

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections.

rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System.

A case of Canavan disease with microcephaly.

Structural modeling of p.V31F variant in the aspartoacylase gene.

Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease.

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Novel mutation in an Egyptian patient with infantile Canavan disease.

Gene Therapy for the Treatment of Neurological Disorders: Metabolic Disorders.

Atypical clinical and radiological course of a patient with Canavan disease.

Purification and characterization of aspartate N-acetyltransferase: A critical enzyme in brain metabolism.

N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.

Early diagnosis of Canavan syndrome: how can we get there?

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.

Canavan disease: an Arab scenario.

Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.

Acetate supplementation as a means of inducing glioblastoma stem-like cell growth arrest.