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Epigenetics and Neuroinflammation Associated With Neurodevelopmental Disorders: A Microglial Perspective

Komada, M., & Nishimura, Y. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.852752 · Cited by 32 · see citing works

Biallelic mutations in NRROS cause an early onset lethal microgliopathy

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JAB1 deletion in oligodendrocytes causes senescence-induced inflammation and neurodegeneration in mice

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

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Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders

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Clinico-radiological phenotyping and diagnostic pathways in childhood neurometabolic disorders—a practical introductory guide

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Defective myelination in an RNA polymerase III mutant leukodystrophic mouse

Merheb, E., Cui, M., DuBois, J. C., Branch, C. A., Gulinello, M. E., Shafit‐Zagardo, B., Moir, R. D., & Willis, I. M. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2024378118 · Cited by 30 · see citing works

Cerebral hypomyelination associated with biallelic variants of FIG4

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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Adang, L. A., Sevagamoorthy, A., Sherbini, O., Fraser, J. L., Bonkowsky, J. L., Gavazzi, F., D'Aiello, R., Modesti, N. B., Yu, E. J., Mutua, S., et al. (2024) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2024.108453 · Cited by 28 · see citing works

Critical analysis of translational potential of rodent models of white matter pathology across a wide spectrum of human diseases

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Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa

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Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina

Padiath, Q. S. (2019) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2019.00041 · Cited by 28 · see citing works

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations

Roux, C., Barcia, G., Schiff, M., Sissler, M., Levy, R., Dangouloff‐Ros, V., Desguerre, I., Edvardson, S., Elpeleg, O., Rötig, A., et al. (2021) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2021.04.004 · Cited by 28 · see citing works

AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease

Pardo, B., Herrada-Soler, E., Satrústegui, J., Contreras, L., & del Arco, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23010528 · Cited by 27 · see citing works

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

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Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness

Sferra, A., Fortugno, P., Motta, M., Aiello, C., Petrini, S., Ciolfi, A., Cipressa, F., Moroni, I., Leuzzi, V., Pieroni, L., et al. (2021) · Brain · doi:10.1093/brain/awab185 · Cited by 25 · see citing works

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Pace, R. D., Maroofian, R., Paimboeuf, A., Zamani, M., Zaki, M. S., Sadeghian, S., Malamiri, R. A., Galehdari, H., Zeighami, J., Williamson, C. D., et al. (2023) · Brain · doi:10.1093/brain/awad427 · Cited by 25 · see citing works

Neural stem cells restore myelin in a demyelinating model of Pelizaeus-Merzbacher disease

Gruenenfelder, F. I., McLaughlin, M., Griffiths, I. R., Garbern, J. Y., Thomson, G., Kuzman, P., Barrie, J. A., McCulloch, M. C., Penderis, J., Stassart, R. M., et al. (2020) · Brain · doi:10.1093/brain/awaa080 · Cited by 25 · see citing works

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies

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Oligodendrocyte differentiation alters tRNA modifications and codon optimality-mediated mRNA decay

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Update on leukodystrophies and developing trials

Ceravolo, G., Zhelcheska, K., Squadrito, V., Pellerin, D., Gitto, E., Hartley, L., & Houlden, H. (2023) · Journal of Neurology · doi:10.1007/s00415-023-11996-5 · Cited by 24 · see citing works

Cognitive dysfunction and symptoms of movement disorders in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Ikeuchi, T., Mezaki, N., & Miura, T. (2017) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2017.08.018 · Cited by 24 · see citing works

Leukodystrophies and genetic leukoencephalopathies in children

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Hypomyelinating leukodystrophies in adults: Clinical and genetic features

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Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

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Epilepsy in children with leukodystrophies

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Quantitative MRI in leukodystrophies

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FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration

Dufour, B. D., Bartley, T., McBride, E., Allen, E., McLennan, Y. A., Hagerman, R. J., & Martínez‐Cerdeño, V. (2023) · Annals of Neurology · doi:10.1002/ana.26851 · Cited by 22 · see citing works

Update on pediatric-onset multiple sclerosis

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Animal models of leukodystrophy: a new perspective for the development of therapies

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The pathology of X-linked adrenoleukodystrophy: Tissue specific changes as a clue to pathophysiology

Yska, H. A. F., Engelen, M., & Bugiani, M. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03105-0 · Cited by 20 · see citing works

Safety and Efficacy of Intravenous and Intrathecal Delivery of AAV9-Mediated ARSA in Minipigs

Mullagulova, A. I., Shaimardanova, A. A., Solovyeva, V. V., Mukhamedshina, Y. O., Chulpanova, D. S., Kostennikov, A., Issa, S. S., & Rizvanov, A. A. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119204 · Cited by 20 · see citing works

Oligodendrocytes in central nervous system diseases: the effect of cytokine regulation

Zhang, C., Qiu, M. S., & Fu, H. Q. (2024) · Neural Regeneration Research · doi:10.4103/1673-5374.392854 · Cited by 20 · see citing works

POLR3-related Leukodystrophy

Thomas, A., & Thomas, A. K. (2019) · Journal of Clinical Imaging Science · doi:10.25259/jcis_116_2019 · Cited by 20 · see citing works

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement

Friederich, M. W., Perez, F. A., Knight, K. M., Hove, R. A. V., Yang, S. P., Saneto, R. P., & Hove, J. L. K. V. (2019) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2019.12.013 · Cited by 20 · see citing works

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

Perrier, S., Michell‐Robinson, M. A., & Bernard, G. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.631802 · Cited by 20 · see citing works

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

Lotun, A., Gessler, D. J., & Gao, G. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.661928 · Cited by 20 · see citing works

1,2-Dichloroethane induces cortex demyelination by depressing myelin basic protein via inhibiting aquaporin 4 in mice

Zhong, Y., Liang, B., Meng, H., Ye, R., Li, Z., Du, J., Wang, B., Zhang, B., Huang, Y., Lin, X., et al. (2022) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2022.113180 · Cited by 20 · see citing works

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants

Stellingwerff, M. D., Nulton, C., Helman, G., Roosendaal, S. D., Benko, W. S., Pizzino, A. M., Bugiani, M., Vanderver, A. L., Simons, C., & van der Knaap, M. S. (2022) · Neuropediatrics · doi:10.1055/a-1739-2722 · Cited by 19 · see citing works

Value of white matter hyperintensity volume and total white matter volume for evaluating cognitive impairment in patients with cerebral small-vessel disease

Zhang, S., Hu, Y., Yang, H., Li, Q., Chen, J., & Bai, H. (2023) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2023.1096808 · Cited by 19 · see citing works

Claudin-11 in health and disease: implications for myelin disorders, hearing, and fertility

Gjervan, S. C., Ozgoren, O. K., Gow, A., Stöckler‐Ipsiroglu, S., & Pouladi, M. A. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1344090 · Cited by 19 · see citing works

Brain macrophages in vascular health and dysfunction

Bijnen, M., Sridhar, S., Keller, A., & Greter, M. (2024) · Trends in Immunology · doi:10.1016/j.it.2024.11.012 · Cited by 19 · see citing works

Clinical approach to neurodegenerative disorders in childhood: an updated overview

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Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification

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Interferon-α receptor antisense oligonucleotides reduce neuroinflammation and neuropathology in a mouse model of cerebral interferonopathy

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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

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Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective

Estévez, R., Elorza‐Vidal, X., Gaitán‐Peñas, H., Pérez‐Rius, C., Armand‐Ugón, M., Alonso-Gardón, M., Xicoy-Espaulella, E., Sirisi, S., Arnedo, T., Capdevila‐Nortes, X., et al. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.10.013 · Cited by 18 · see citing works

White Matter Lesions in Adults – a Differential Diagnostic Approach

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Genetic disorders with central nervous system white matter abnormalities: An update

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Diagnostic approach in multiple sclerosis with MRI: an update

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Leukodystrophies

Schrifl, U., Naidu, S., & Fatemi, A. S. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780199937837.003.0070

“Genetic leukodystrophies and leukoencephalopathies in a referral center”

Saldaña, D. G., Peregrino, K. G. E., de Montellano, D. J. D., & Woehrlen, M.-C. B. (2023) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2023.121845

Neuropathology of white matter disorders

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Leukodystrophies—an overview

Engelen, M., & Wolf, N. I. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00074-1

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies

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