Disease: Leukodystrophy- psuedometachromatic
- <em>In silico</em> characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (<em>SHQ1</em>) from Indian population
- 4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum
- A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
- A case report of POL3A leukodystrophy presenting with first episode psychosis
- A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy
- A systematic review on the birth prevalence of metachromatic leukodystrophy
- Adult-onset Leukodystrophy due to TMEM63A Variant Presenting with Rapidly Progressive Dementia with Parkinsonism
- Allogeneic hematopoietic cell transplantation for adult metachromatic leukodystrophy: a case series
- Allogeneic Hematopoietic Stem Cell Transplantation for Adult Metachromatic Leukodystrophy (MLD): A Case Series
- Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia
- Anti-NMDA receptor encephalitis presenting as a progression of disease in a patient with underlying congenital leukodystrophy: Case report
- Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy
- Atidarsagene autotemcel for metachromatic leukodystrophy
- Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease
- Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation
- Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia
- Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
- Characterization of the molecular dysfunctions occurring in Aicardi-Goutières syndrome patients with mutations in ADAR1
- Chronic Rapamycin administration via drinking water mitigates the pathological phenotype in a Krabbe disease mouse model through autophagy activation
- Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility
- Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation
- Combining CRISPR-Cas9 and TCR exchange to generate a safe and efficient cord blood-derived T cell product for pediatric relapsed AML
- Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
- Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
- Debut and evolution MRI images of a child with a new genetic variant of vanishing white matter leukodystrophy
- Differential diagnosis between multiple sclerosis and leukodystrophies - A scoping review
- Dihydroceramide desaturase governs endoplasmic reticulum and lipid droplet homeostasis to promote glial function in the nervous system
- Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy
- Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
- Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
- Emerging Evidence of Golgi Stress Signaling for Neuropathies
- Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India
- Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease
- Experiences of patients with metachromatic leukodystrophy, adrenoleukodystrophy, or Krabbe disease and their family members: a qualitative systematic review
- FDA approves gene therapy for metachromatic leukodystrophy, the tenth for a genetic disease and the priciest yet
- Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A
- Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
- Generation and characterization of a zebrafish gain-of-function <em>ACOX1</em> Mitchell disease model
- Genetic analysis of a case with Adult-onset globoid cell leukodystrophy
- Genetic and pharmacological modulation of lamin A farnesylation determines its function and turnover
- Genetic Myelopathies
- Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
- Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
- Hereditary spastic paraplegia type 35 in a Turkish girl with fatty acid hydroxylase-associated neurodegeneration
- Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
- Imaging feature of Leukoencephalopathy with calcifications and cysts (Labrune syndrome)
- Impact on physical, social, and family functioning of patients with metachromatic leukodystrophy and their family members in Japan: A qualitative study
- Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
- In Silico Structural Modeling and Binding Site Analysis of Cerebroside Sulfotransferase (CST): A Therapeutic Target for Developing Substrate Reduction Therapy for Metachromatic Leukodystrophy
- In vivo base editing of a pathogenic Eif2b5 variant improves vanishing white matter phenotypes in mice
- Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
- Less common phenotypes of myelin oligodendrocyte glycoprotein antibody-related diseases in children deserve more attention
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease
- Lithium: effects in animal models of vanishing white matter are not promising
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
- Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy
- Loss of dihydroceramide desaturase drives neurodegeneration by disrupting endoplasmic reticulum and lipid droplet homeostasis in glial cells
- Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism
- Loss of TMEM106B exacerbates Tau pathology and neurodegeneration in PS19 mice
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature
- Magnetic resonance fingerprinting-based myelin water fraction mapping for the assessment of white matter maturation and integrity in typical development and leukodystrophies
- Male Carrier of X-Linked Adrenal Leukodystrophy Due to 47, XXY Karyotype
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
- Metachromatic leukodystrophy: A story of hope woven from sorrow
- Missense mutation (C667F) in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
- Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
- NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review
- Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
- Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements
- Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
- Novel <em>SLC13A3</em> Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review
- Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35)
- Nucleotide metabolism, leukodystrophies, and CNS pathology
- Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy
- PAEDIATRIC SYMPTOMATIC SEIZURES IN INDIA: UNRAVELLING VARIED ETIOLOGIES AND NEUROIMAGING PATTERNS - A MULTICENTRIC STUDY
- Pearls & Oy-sters: AARS2 Leukodystrophy-Tremor and Tribulations
- Pelizaeus-Merzbacher disease: on the cusp of myelin medicine
- Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease
- POLR3-related leukodystrophy caused by biallelic POLR3A and 1C pathogenic variants: a single-center experience
- Progress in leukodystrophies with zebrafish
- Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series
- RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review
- RNF220-mediated K63-linked polyubiquitination stabilizes Olig proteins during oligodendroglial development and myelination
- Spastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease
- Spectrum of <em>ERCC6</em>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
- Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
- The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases
- The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland
- The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
- The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy
- The Effects of the S1P Receptor Agonist Fingolimod (FTY720) on Central and Peripheral Myelin in Twitcher Mice
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review
- The pathology of X-linked adrenoleukodystrophy: tissue specific changes as a clue to pathophysiology
- Utilizing hiPSC-derived oligodendrocytes to study myelin pathophysiology in neuropsychiatric and neurodegenerative disorders
- Viral Vectors in Gene Replacement Therapy
- What can pediatricians learn from adult inherited metabolic diseases?
- What is the cross-disciplinary pathway for a patient receiving gene therapy?