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New therapeutic strategies for the treatment of metachromatic leukodystrophy

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

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Leukodystrophy with disorders of sex development due to WT1 mutations

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A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy

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Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies

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Ovarioleukodystrophy Due to EIF2B Genes: Systematic Review and Case Report

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Adult‐onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients

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Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features

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Oligodendrocyte: Structure, Function and Pathology

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Pediatric Multiple Sclerosis

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A novel remitting leukodystrophy associated with a variant in FBP2

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HepaCAM shapes astrocyte territories, stabilizes gap-junction coupling, and influences neuronal excitability

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Glutaric Acid Neurotoxicity: Mechanisms and Actions

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Rare Diseases in Glycosphingolipid Metabolism

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Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature

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A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review

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A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms

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Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox

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Progress in leukodystrophies with zebrafish

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4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum

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Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I

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Neuroglia in leukodystrophies

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Case report: Neuropsychological assessment in a patient with 4H leukodystrophy

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Potential Disease‐Modifying Effects of Ganglioside GM1 Pulse Treatment on Spinocerebellar Ataxia Type 3, a Parallel‐Group, Double‐Blind, Randomized, Controlled Trial

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A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family

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Early Signs and Symptoms of Leukodystrophies: A Case-Based Guide

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Glutaric Acid Neurotoxicity: Mechanisms and Actions

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Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy

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Alexander disease: The story behind an eponym

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TMEM106B and myelination: rare leukodystrophy families reveal unexpected connections

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Defective myelination in an RNA polymerase III mutant leukodystrophic mousePreprint

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Landscape of human spinal cord cell type diversity at midgestationPreprint

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Terra incognita of glial cell dynamics in the etiology of leukodystrophies: Broadening disease and therapeutic perspectives

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Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

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Genetic analysis of leukodystrophies in children: towards improved diagnostic yield

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Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy

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Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction

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Truncating GAS6 Variant Disrupts Neuroglial Homeostasis in a Childhood‐Onset Demyelinating Disorder

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Anesthetic Management of a Patient with Type II Alexander Disease: A Case Report

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POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences With the Health Care System

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POLR3-Related Leukodystrophy: A Case Series from the Indian Scenario

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Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids.

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Classifying Hypomyelination: A Critical (White) Matter

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Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies

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Case report: Analysis of a gene variant and prenatal diagnosis in a family with megalencephalic leukoencephalopathy with subcortical cysts

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T1-weighted fast fluid-attenuated inversion-recovery sequence (T1-FFLAIR) enables the visualization and quantification of fetal brain myelination in utero

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Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern India

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Adult-onset leukodystrophy

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Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility

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The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants

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Cerebellar white matter development is regulated by fractalkine-dependent microglia phagocytosis of oligodendrocyte progenitor cells

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Cognitive and intellectual functioning in leukodystrophy patients: a systematic review

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Differenzialdiagnose der zervikalen Myelitis

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The First Case of 4H Syndrome with Type 1 Diabetes Mellitus

Büyükyılmaz, G., Çavdarlı, B., Adıgüzel, K. T., Adiguzel, M., Kasapkara, Ç. S., Gürbüz, F., Boyraz, M., & Gürkaş, E. (2023) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2023.2023-1-15 · Cited by 2

Leukodystrophies and Inherited Metabolic Conditions

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Sensitivity to myelin using model‐free analysis of the water resonance line‐shape in postmortem mouse brain

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Hypomyelinating leukodystrophy – NKX6–2 gene variant as a cause

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Causes of Congenital Malformations

Lammens, M. M. Y., Bekker, M. N., Willemsen, M. A. A. P., Bugiani, M., van Bokhoven, H., Ulzen, K. K.-V., & ten Donkelaar, H. J. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_3 · Cited by 2

Glial Origins of Inherited White Matter DisordersPreprint

Sevagamoorthy, A., Vanderver, A. L., Fraser, J. L., & Orthmann‐Murphy, J. L. (2024) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a041457 · Cited by 2

Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts

Sadek, A. A., Aladawy, M. A.-A., Mansour, T. M. M., Ibrahim, M. F., Mohamed, M., Gad, E. F., Othman, A. A., Ahmed, H. A., Kasim, A. K., Wagdy, W. M., et al. (2022) · Journal of Child Neurology · doi:10.1177/08830738221078683 · Cited by 1

Tremor syndromes in dogs and cats: an update

Liatis, T., & Decker, S. D. (2023) · Companion animal · doi:10.12968/coan.2023.0031 · Cited by 1

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Rey, F., Esposito, L., Maghraby, E., Mauri, A., Berardo, C., Bonaventura, E., Tonduti, D., Carelli, S., & Cereda, C. (2024) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1854 · Cited by 1

Ring finger protein 216 loss‐of‐function induces white matter hyperintensities by inhibiting oligodendroglia proliferation

Xu, W., Chen, K., Yuan, Y., Guo, M., Dong, Q., & Cui, M. (2024) · Cell Biochemistry and Function · doi:10.1002/cbf.4057 · Cited by 1

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts – A case series

Ganguly, J., Garg, D., Chandarana, M., Basu, P., Pandita, N., Mukherjee, S., Singh, N., Rawool, A., Sannyasi, G., Kumar, P., et al. (2024) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2024.107152 · Cited by 1

Neuropathology of white matter disorders

Jaunmuktane, Z. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00011-9 · Cited by 1

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Eskin‐Schwartz, M., Seraidy, S., Paz, E., Molhem, M., Ranza, E., Antonarakis, S. E., Blanc, X., Herman, K. C., Benko, W. S., Libzon, S., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-109862 · Cited by 1

Biological basis of neurodevelopmental disabilities

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Multiparametric MRI Can Detect Enhanced Myelination in the Ex Vivo Gli1−/− Mouse Brain

Lee, C. H., Holloman, M., Salzer, J. L., & Zhang, J. (2025) · NMR in Biomedicine · doi:10.1002/nbm.70025 · Cited by 1

Neuroglial Pathophysiology of Leukodystrophies

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Demyelination and Remyelination: General Principles

Niu, J., Verkhratsky, A., Butt, A. M., & Yi, C. (2025) · Advances in neurobiology · doi:10.1007/978-3-031-87919-7_9 · Cited by 2

SHQ1-related hypomyelinating leukodystrophy: A case report with imaging features and a homozygous variant

Albathi, A., AlMutairi, A. A., & Aldraihem, A. (2025) · Radiology Case Reports · doi:10.1016/j.radcr.2025.07.048 · Cited by 1

Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots

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Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3

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