Disease: Leukodystrophy- psuedometachromatic
- A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis
- A novel missense variant in HIKESHI: Clinical phenotype, in vitro functional testing, and potential for gene therapy
- A retrospective observational cohort study of the anesthetic management and outcomes of pediatric patients with Alexander disease undergoing lumbar puncture or magnetic resonance imaging
- A study on interoperability between two Personal Health Train infrastructures in leukodystrophy data analysis
- A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
- Advances on the Mechanisms and Therapeutic Strategies in Non-coding CGG Repeat Expansion Diseases
- Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI
- Altered liver metabolism post-wean abolishes efficacy of vitamin D for breast cancer prevention in a mouse model
- An Algorithmic Approach to MR Imaging of Hypomyelinating Leukodystrophies
- An early-onset case of adult-onset autosomal dominant leukodystrophy
- Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene
- Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies
- Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
- Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities
- Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
- Case report: Spontaneous improvement and treatment considerations in leukoencephalopathy with calcifications and cysts
- Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation
- Cerebellar Ataxia Secondary to Leukodystrophy with a Frameshift CST3 Variant
- Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation
- Chinese patients with adult onset leukodystrophy caused by CST3 variants
- Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study
- Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
- Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
- Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach
- Dietary Supplementation with n-3 Polyunsaturated Fatty Acids Delays the Phenotypic Manifestation of Krabbe Disease and Partially Restores Lipid Mediator Production in the Brain-Study in a Mouse Model of the Disease
- Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance
- Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy
- Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A
- Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
- Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK
- Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy
- Exploring the globoid cell leukodystrophy protein network and therapeutic interventions
- Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
- Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
- Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols
- Glial Origins of Inherited White Matter Disorders
- Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
- Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency
- Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m(6)A site accessibility
- Human iPSC-derived myelinating organoids and globoid cells to study Krabbe Disease
- Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies
- Identification of a Novel Indel Variant in the <em>DARS2</em> Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
- Illustrating the financial consequences of outcome-based payment models from a payers perspective- the case of autologous gene therapy atidarsagene autotemcel (Libmeldy®)
- Illustrating the Financial Consequences of Outcome-Based Payment Models From a Payers Perspective: The Case of Autologous Gene Therapy Atidarsagene Autotemcel (Libmeldy®)
- Imaging Feature of Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome)
- Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
- Impact of mental health in persons living with rare disease: Findings from the AMCP Market Insights Program
- Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice
- In vivo selection in non-human primates identifies AAV capsids for on-target CSF delivery to spinal cord
- Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans
- International Society for Cell & Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced
- International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy
- Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D
- Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: A long-term follow-up pilot study
- Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy
- Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
- Long-standing neuromyelitis optica with leukodystrophy-like asymptomatic MRI changes
- Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model
- Metachromatic leukodystrophy in infant presenting as acute febrile illness: a case report
- Metachromatic leukodystrophy: A story of hope woven from sorrow
- Microbiota gut-brain axis: implications for pediatric-onset leukodystrophies
- Missense mutation (C667F) in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
- Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology
- MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
- NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review
- New Gene Therapy Changes Treatment Landscape for Metachromatic Leukodystrophy
- Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
- Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
- Obituary: Jacob Valk
- Orchard Therapeutics Gains First U.S. Approval for a Metachromatic Leukodystrophy Gene Therapy
- Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report
- Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice
- POLR3A-related disorders: From spastic ataxia to generalised dystonia and long-term efficacy of deep brain stimulation
- POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy
- Primary angiitis of the central nervous system
- Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)
- Promyelinating drugs ameliorate oligodendrocyte pathologies in a mouse model of Krabbe disease
- Proteomic dissection of vanishing white matter pathogenesis
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report
- 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
- RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review
- Region-specific and age-related differences in astrocytes in the human brain
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
- Role of epigenetics and alterations in RNA metabolism in leukodystrophies
- Serum NfL and GFAP are weak predictors of long-term multiple sclerosis prognosis: A 6-year follow-up
- Spectrum of <em>ERCC6</em>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms
- Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature
- Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
- Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy
- Terra incognita of glial cell dynamics in the etiology of leukodystrophies: Broadening disease and therapeutic perspectives
- The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases
- The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization
- Therapeutic potential of human microglia transplantation in a chimeric model of CSF1R-related leukoencephalopathy
- Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine
- Trametinib, an anti-tumor drug, promotes oligodendrocytes generation and myelin formation
- Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study
- Typical and atypical MRI patterns of rare brain disorders: The challenge of low numbers
- Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients
- Vanishing white matter disease, a rare leukodystrophy with mutation in the EIF2B5 gene
- Vanishing white matter disease: imaging, clinical and molecular correlation in Brazilian families