Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms

The Metabolic and Molecular Bases of Inherited Disease

Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101

Copper-Zinc Superoxide Dismutase (SOD1) Is Released by Microglial Cells and Confers Neuroprotection against 6-OHDA Neurotoxicity

Polazzi, E., Mengoni, I., Caprini, M., Peña‐Altamira, E., Kurtys, E., & Monti, B. (2012) · Neurosignals · doi:10.1159/000337115 · Cited by 9,023

Astrocytes: Biology and pathology

Sofroniew, M. V., & Vinters, H. V. (2010) · Acta Neuropathologica · doi:10.1007/s00401-009-0619-8 · Cited by 5,196

Microglia: Active sensor and versatile effector cells in the normal and pathologic brain

Hanisch, U.-K., & Kettenmann, H. (2007) · Nature Neuroscience · doi:10.1038/nn1997 · Cited by 3,676

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

Pantoni, L. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70104-6 · Cited by 3,405

Dynamic instability of microtubule growth

Mitchison, T., & Kirschner, M. (1984) · Nature · doi:10.1038/312237a0 · Cited by 3,337

M2 microglia and macrophages drive oligodendrocyte differentiation during CNS remyelination

Miron, V. E., Boyd, A., Zhao, J.-W., Yuen, T. J., Ruckh, J. M., Shadrach, J. L., van Wijngaarden, P., Wagers, A. J., Williams, A., Franklin, R. J. M., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3469 · Cited by 1,777

Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging

Wardlaw, J. M., Smith, C., & Dichgans, M. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70060-7 · Cited by 1,657

Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity

Fünfschilling, U., Supplie, L. M., Mahad, D., Boretius, S., Saab, A. S., Edgar, J., Brinkmann, B. G., Kassmann, C. M., Tzvetanova, I. D., Möbius, W., et al. (2012) · Nature · doi:10.1038/nature11007 · Cited by 1,523

Neuronal activity promotes oligodendrogenesis and adaptive myelination in the mammalian brain

Gibson, E. M., Purger, D., Mount, C. W., Goldstein, A. K., Lin, G. L., Wood, L. S., Inema, I., Miller, S. E., Bieri, G., Zuchero, J. B., et al. (2014) · Science · doi:10.1126/science.1252304 · Cited by 1,472

Greenfield's Neuropathology

(1964) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.1964.tb115841.x · Cited by 1,411

Translational control of gene expression

Sonenberg, N., Hershey, J. W. B., & Mathews, M. B. (2000) · Cold Spring Harbor Laboratory eBooks · Cited by 1,379

The Mystery and Magic of Glia: A Perspective on Their Roles in Health and Disease

Barres, B. A. (2008) · Neuron · doi:10.1016/j.neuron.2008.10.013 · Cited by 1,352

Cell death and control of cell survival in the oligodendrocyte lineage

Barres, B. A., Hart, I. K., Coles, H. S. R., Burne, J. F., Voyvodic, J. T., Richardson, W. D., & Raff, M. C. (1992) · Cell · doi:10.1016/0092-8674(92)90531-g · Cited by 1,345

Translational control of gene expression

Hannig, E. M. (2001) · BioEssays · doi:10.1002/bies.1108 · Cited by 1,194

Mammalian stress response: cell physiology, structure/function of stress proteins, and implications for medicine and disease

Welch, W. J. (1992) · Physiological Reviews · doi:10.1152/physrev.1992.72.4.1063 · Cited by 1,190

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

Biffi, A., Montini, E., Lorioli, L., Cesani, M., Fumagalli, F., Plati, T., Baldoli, C., Martino, S., Calabria, A., Canale, S., et al. (2013) · Science · doi:10.1126/science.1233158 · Cited by 1,180

Debris clearance by microglia: an essential link between degeneration and regeneration

Neumann, H., Kotter, M. R., & Franklin, R. J. M. (2008) · Brain · doi:10.1093/brain/awn109 · Cited by 1,111

Subcortical ischaemic vascular dementia

Román, G. C., Erkinjuntti, T., Wallin, A., Pantoni, L., & Chui, H. C. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00190-4 · Cited by 1,067

Myelination of the Nervous System: Mechanisms and Functions

Nave, K.-A., & Werner, H. B. (2014) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-100913-013101 · Cited by 983

Oligodendrocyte Dynamics in the Healthy Adult CNS: Evidence for Myelin Remodeling

Young, K. M., Psachoulia, K., Tripathi, R. B., Dunn, S.-J., Cossell, L., Attwell, D., Tohyama, K., & Richardson, W. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.01.006 · Cited by 919 · cited 1×

Origin and differentiation of microglia

Ginhoux, F., Lim, S., Hoeffel, G., Low, D., & Huber, T. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00045 · Cited by 905 · cited 20×

Platelet-derived growth factor promotes division and motility and inhibits premature differentiation of the oligodendrocyte/type-2 astrocyte progenitor ceil

Noble, M., Murray, K., Stroobant, P., Waterfield, M. D., & Riddle, P. (1988) · Nature · doi:10.1038/333560a0 · Cited by 830

Oligodendrocyte progenitors balance growth with self-repulsion to achieve homeostasis in the adult brain

Hughes, E. G., Kang, S. H., Fukaya, M., & Bergles, D. E. (2013) · Nature Neuroscience · doi:10.1038/nn.3390 · Cited by 808

CSF-1 regulation of the wandering macrophage: complexity in action

Pixley, F. J., & Stanley, E. R. (2004) · Trends in Cell Biology · doi:10.1016/j.tcb.2004.09.016 · Cited by 807

Astrocytes: a central element in neurological diseases

Pekny, M., Pekna, M., Messing, A., Steinhäuser, C., Lee, J., Parpura, V., Hol, E. M., Sofroniew, M. V., & Verkhratsky, A. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1513-1 · Cited by 793

Greenfield's Neuropathology

Geddes, J. F. (1997) · Journal of Clinical Pathology · doi:10.1136/jcp.50.9.798-a · Cited by 725

A universal scaling law between gray matter and white matter of cerebral cortex

Zhang, K., & Sejnowski, T. J. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.090504197 · Cited by 723

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

Brenner, M., Johnson, T., Boespflug‐Tanguy, O., Rodriguez, D., Goldman, J. E., & Messing, A. (2001) · Nature Genetics · doi:10.1038/83679 · Cited by 698

Astrocytes promote myelination in response to electrical impulses

Ishibashi, T., Dakin, K. A., Stevens, B., Lee, P. R., Kozlov, S. V., Stewart, C. L., & Fields, R. D. (2006) · Neuron · doi:10.1016/j.neuron.2006.02.006 · Cited by 689

Induction of myelination in the central nervous system by electrical activity

Demerens, C., Stankoff, B., Logak, M., Anglade, P., Allinquant, B., Couraud, F., Zalc, B., & Lubetzki, C. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.18.9887 · Cited by 678

Proliferation of oligodendrocyte precursor cells depends on electrical activity in axons

Barres, B. A., & Raff, M. C. (1993) · Nature · doi:10.1038/361258a0 · Cited by 673

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier, D. S., Proia, R. L., d’Azzo, A., & Tifft, C. J. (2016) · PubMed · Cited by 658

Regulation of oligodendrocyte differentiation and myelination

Emery, B. (2010) · Science · doi:10.1126/science.1190927 · Cited by 653

Myelination and the trophic support of long axons

Nave, K.-A. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2797 · Cited by 648

LINGO-1 negatively regulates myelination by oligodendrocytes

Mi, S., Miller, R. H., Lee, X., Scott, M. L., Shulag-Morskaya, S., Shao, Z., Chang, J., Thill, G., Levesque, M., Zhang, M., et al. (2005) · Nature Neuroscience · doi:10.1038/nn1460 · Cited by 628

Hyaluronan accumulates in demyelinated lesions and inhibits oligodendrocyte progenitor maturation

Back, S. A., Tuohy, T. M. F., Chen, H., Wallingford, N., Craig, A., Struve, J., Luo, N. L., Banine, F., Liu, Y., Chang, A., et al. (2005) · Nature Medicine · doi:10.1038/nm1279 · Cited by 612

Inefficient clearance of myelin debris by microglia impairs remyelinating processes

Lampron, A., Larochelle, A., Laflamme, N., Préfontaine, P., Plante, M.-M., Sánchez, M. G., Yong, V. W., Stys, P. K., Tremblay, M.-È., & Rivest, S. (2015) · Journal of Experimental Medicine · doi:10.1084/jem.20141656 · Cited by 595

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., Lash, J., Wider, C., Wojtas, A., DeJesus-Hernandez, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.1027 · Cited by 571

Invited article: an MRI-based approach to the diagnosis of white matter disorders

Schiffmann, R., & van der Knaap, M. S. (2009) · Neurology · doi:10.1212/01.wnl.0000343049.00540.c8 · Cited by 553

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

Sessa, M., Lorioli, L., Fumagalli, F., Acquati, S., Redaelli, D., Baldoli, C., Canale, S., Lopez, I. D., Morena, F., Calabria, A., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)30374-9 · Cited by 502

Vesicular release of glutamate from unmyelinated axons in white matter

Ziskin, J. L., Nishiyama, A., Rubio, M. E., Fukaya, M., & Bergles, D. E. (2007) · Nature Neuroscience · doi:10.1038/nn1854 · Cited by 488

White matter and cognition: making the connection

Filley, C. M., & Fields, R. D. (2016) · Journal of Neurophysiology · doi:10.1152/jn.00221.2016 · Cited by 479

Magnetic Resonance of Myelination and Myelin Disorders

van der Knaap, M. S., & Valk, J. (2005) · Springer eBooks · doi:10.1007/3-540-27660-2 · Cited by 397

Differentiation and death of premyelinating oligodendrocytes in developing rodent brain

Trapp, B. D., Nishiyama, A., Cheng, D., & Macklin, W. (1997) · The Journal of Cell Biology · doi:10.1083/jcb.137.2.459 · Cited by 395

A new leukoencephalopathy with vanishing white matter

van der Knaap, M. S., Barth, P. G., Gabreëls, F. J. M., Franzonı, E., Begeer, J. H., Stroink, H., Rotteveel, J. J., & Valk, J. (1997) · Neurology · doi:10.1212/wnl.48.4.845 · Cited by 389

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

van der Knaap, M. S., Leegwater, P. A. J., Könst, A. A. M., Visser, A., Naidu, S., Oudejans, C. B. M., Schutgens, R. B. H., & Pronk, J. C. (2001) · Annals of Neurology · doi:10.1002/ana.10112 · Cited by 380

Is There a Cerebral Lymphatic System?

Iliff, J. J., & Nedergaard, M. (2013) · Stroke · doi:10.1161/strokeaha.112.678698 · Cited by 377

Astrocytes regulate myelin clearance through recruitment of microglia during cuprizone-induced demyelination

Skripuletz, T., Hackstette, D., Bauer, K., Gudi, V., Pul, R., Voss, E., Berger, K., Kipp, M., Baumgärtner, W., & Stangel, M. (2013) · Brain · doi:10.1093/brain/aws262 · Cited by 376

Vanishing white matter disease

van der Knaap, M. S., Pronk, J. C., & Scheper, G. C. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70440-9 · Cited by 371

Interactions between ID and OLIG proteins mediate the inhibitory effects of BMP4 on oligodendroglial differentiation

Samanta, J., & Kessler, J. A. (2004) · Development · doi:10.1242/dev.01273 · Cited by 361

Prediction of the Coding Sequences of Unidentified Human Genes. I. The Coding Sequences of 40 New Genes (KIAA0001-KIAA0040) Deduced by Analysis of Randomly Sampled cDNA Clones from Human Immature Myeloid Cell Line KG-1 (Supplement)

Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayasi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K.-I., & Tabata, S. (1994) · DNA Research · doi:10.1093/dnares/1.1.47 · Cited by 357

Individual Oligodendrocytes Have Only a Few Hours in which to Generate New Myelin Sheaths In Vivo

Czopka, T., ffrench‐Constant, C., & Lyons, D. A. (2013) · Developmental Cell · doi:10.1016/j.devcel.2013.05.013 · Cited by 354

Neuregulin and BDNF Induce a Switch to NMDA Receptor-Dependent Myelination by Oligodendrocytes

Lundgaard, I., Luzhynskaya, A., Stockley, J. H., Wang, Z., Evans, K. A., Swire, M., Volbracht, K., Gautier, H. O. B., Franklin, R. J. M., ffrench‐Constant, C., et al. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001743 · Cited by 351

Myelin Regeneration: A Recapitulation of Development?

Fancy, S. P. J., Chan, J. R., Baranzini, S. E., Franklin, R. J. M., & Rowitch, D. H. (2011) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-061010-113629 · Cited by 339

Alexander disease: diagnosis with MR imaging.

van der Knaap, M. S., Naidu, S., Breiter, S. N., Blasér, S., Stroink, H., Springer, S., Begeer, J. C., Coster, R. V., Barth, P. G., Thomas, N. H., et al. (2001) · PubMed Central · Cited by 338

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

van der Knaap, M. S., Barth, P. G., Stroink, H., van Nieuwenhuizen, O., Arts, W. F. M., Hoogenraad, F. G. C., & Valk, J. (1995) · Annals of Neurology · doi:10.1002/ana.410370308 · Cited by 337

Tight Binding of the Phosphorylated α Subunit of Initiation Factor 2 (eIF2α) to the Regulatory Subunits of Guanine Nucleotide Exchange Factor eIF2B Is Required for Inhibition of Translation Initiation

Krishnamoorthy, T., Pavitt, G. D., Zhang, F., Dever, T. E., & Hinnebusch, A. G. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.15.5018-5030.2001 · Cited by 336

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

Sandhoff, K., & HARZER, K. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.0822-13.2013 · Cited by 283

Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease

Purpura, D. P., & Suzuki, K. (1976) · Brain Research · doi:10.1016/0006-8993(76)90245-6 · Cited by 277

Neural Stem Cell Engraftment and Myelination in the Human Brain

Gupta, N. M., Henry, R. G., Strober, J. B., Kang, S., Lim, D. A., Bucci, M., Caverzasi, E., Gaetano, L., Mandelli, M. L., Ryan, T., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004373 · Cited by 277

The Unfolded Protein Response Modulates Disease Severity in Pelizaeus-Merzbacher Disease

Southwood, C. M., Garbern, J. Y., Jiang, W., & Gow, A. (2002) · Neuron · doi:10.1016/s0896-6273(02)01045-0 · Cited by 274

Mechanisms regulating the development of oligodendrocytes and central nervous system myelin

Mitew, S., Hay, C. M., Peckham, H., Xiao, J., Koenning, M., & Emery, B. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2013.11.029 · Cited by 268

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

Leegwater, P. A. J., Yuan, B. Q., van der Steen, J., Mulders, J., Könst, A. A. M., Boor, P. K. I., Mejaški‐Bošnjak, V., van der Maarel, S. M., Frants, R. R., Oudejans, C. B. M., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/319519 · Cited by 266

GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Prust, M. J., Wang, J., Morizono, H., Messing, A., Brenner, M., Gordon, E., Hartka, T., Sokohl, A., Schiffmann, R., Gordish‐Dressman, H., et al. (2011) · Neurology · doi:10.1212/wnl.0b013e3182309f72 · Cited by 264

Case definition and classification of leukodystrophies and leukoencephalopathies

Vanderver, A. L., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J. Y., Eichler, F., Labauge, P. M., Aubourg, P. R., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.01.006 · Cited by 263

Childhood ataxia with diffuse central nervous system hypomyelination

Schiffmann, R., Möller, J. R., Trapp, B. D., Shih, H., Farrer, R. G., Katz, D. A., Alger, J. R., Parker, C. C., Hauer, P. E., Kaneski, C. R., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410350314 · Cited by 253

Alexander Disease

Messing, A., Brenner, M., Feany, M. B., Nedergaard, M., & Goldman, J. E. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.5384-11.2012 · Cited by 250

Prediction of the Coding Sequences of Unidentified Human Genes. I. The Coding Sequences of 40 New Genes (KIAA0001-KIAA0040) Deduced by Analysis of Randomly Sampled cDNA Clones from Human Immature Myeloid Cell Line KG-1

Nomura, N., Miyajima, N., Sazuka, T., Tanaka, A., Kawarabayasi, Y., Sato, S., Nagase, T., Seki, N., Ishikawa, K.-I., & Tabata, S. (1994) · DNA Research · doi:10.1093/dnares/1.1.27 · Cited by 244

Defining and Categorizing Leukoencephalopathies of Unknown Origin: MR Imaging Approach

van der Knaap, M. S., Breiter, S. N., Naidu, S., Hart, A. A. M., & Valk, J. (1999) · Radiology · doi:10.1148/radiology.213.1.r99se01121 · Cited by 240

Progressive Accumulation of Toxic Metabolite in a Genetic Leukodystrophy

Igisu, H., & Suzuki, K. (1984) · Science · doi:10.1126/science.6719111 · Cited by 236

Deletion of Astrocyte Connexins 43 and 30 Leads to a Dysmyelinating Phenotype and Hippocampal CA1 Vacuolation

Lutz, S. E., Zhao, Y., Gulinello, M. E., Lee, S. C., Raine, C. S., & Brosnan, C. F. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0341-09.2009 · Cited by 228

Pathophysiology of Age-Related Cerebral White Matter Changes

Pantoni, L. (2002) · Cerebrovascular Diseases · doi:10.1159/000049143 · Cited by 226

GM1-Ganglioside-Mediated Activation of the Unfolded Protein Response Causes Neuronal Death in a Neurodegenerative Gangliosidosis

Tessitore, A., Martin, M. D. P., Sano, R., Ma, Y., Männ, L., Ingrassia, A. M. T., Laywell, E. D., Steindler, D. A., Hendershot, L. M., & d’Azzo, A. (2004) · Molecular Cell · doi:10.1016/j.molcel.2004.08.029 · Cited by 226

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

Steenweg, M. E., Ghezzi, D., Haack, T. B., Abbink, T. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A. E., Diogo, L. M., Grillo, E., Naudé, J. T. W., et al. (2012) · Brain · doi:10.1093/brain/aws070 · Cited by 216

Metachromatic Leukodystrophy – An Update

Gieselmann, V., & Krägeloh‐Mann, I. (2010) · Neuropediatrics · doi:10.1055/s-0030-1253412 · Cited by 215

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

Magen, D., Georgopoulos, C. P., Bross, P., Ang, D., Segev, Y., Goldsher, D., Nemirovski, A., Shahar, E. M., Ravid, S., LUDER, A. S., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.016 · Cited by 212

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

van Rappard, D. F., Boelens, J. J., & Wolf, N. I. (2014) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2014.10.001 · Cited by 211

Translocation of myelin basic protein mRNA in oligodendrocytes requires microtubules and kinesin

Carson, J. H., Worboys, K., Ainger, K. J., & Barbarese, E. (1997) · Cell Motility and the Cytoskeleton · doi:10.1002/(sici)1097-0169(1997)38:4 · Cited by 209

Astrocyte-derived endothelin-1 inhibits remyelination through notch activation

Hammond, T. R., Gadea, A., Dupree, J., Kerninon, C., Nait-Oumesmar, B., Aguirre, A., & Gallo, V. (2014) · Neuron · doi:10.1016/j.neuron.2013.11.015 · Cited by 206

Selective Glial Vulnerability following Transient Global Ischemia in Rat Brain

Petito, C. K., Olarte, J.-P., Roberts, B., Nowak, T. S., & Pulsinell, W. A. (1998) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199803000-00004 · Cited by 205

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Simons, C., Wolf, N. I., McNeil, N., Caldovic, L., Devaney, J. M., Takanohashi, A., Crawford, J., Ru, K., Grimmond, S. M., Miller, D. K., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.018 · Cited by 203

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Wolf, N. I., Vanderver, A. L., van Spaendonk, R. M. L., Schiffmann, R., Brais, B., Bugiani, M., Sistermans, E. A., Catsman‐Berrevoets, C. E., Kros, J. M., Pinto, P. S., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000001002 · Cited by 203

Type III neuregulin‐1 promotes oligodendrocyte myelination

Taveggia, C., Thaker, P., Petrylak, A., Caporaso, G. L., Toews, A. D., Falls, D. L., Einheber, S., & Salzer, J. L. (2007) · Glia · doi:10.1002/glia.20612 · Cited by 201

Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Fogli, A., Rodriguez, D., Eymard-Pierre, É., Bouhour, F., Labauge, P. M., Meaney, B. F., Zeesman, S., Kaneski, C. R., Schiffmann, R., & Boespflug‐Tanguy, O. (2003) · The American Journal of Human Genetics · doi:10.1086/375404 · Cited by 197

Arrested Oligodendrocyte Lineage Progression During Human Cerebral White Matter Development: Dissociation Between the Timing of Progenitor Differentiation and Myelinogenesis

Back, S. A., Luo, N. L., Borenstein, N. S., Volpe, J. J., & Kinney, H. C. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.2.197 · Cited by 196

Phenotypic variation in leukoencephalopathy with vanishing white matter

van der Knaap, M. S., Kamphorst, W., Barth, P. G., Kraaijeveld, C. L., Gut, E., & Valk, J. (1998) · Neurology · doi:10.1212/wnl.51.2.540 · Cited by 195

The Role and Metabolism of Sulfatide in the Nervous System

Eckhardt, M. (2008) · Molecular Neurobiology · doi:10.1007/s12035-008-8022-3 · Cited by 193

Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism

López-Hernández, T., Ridder, M. C., Montolio, M., Capdevila‐Nortes, X., Polder, E., Sirisi, S., Duarri, A., Schulte, U., Fakler, B., Nunes, V., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.02.009 · Cited by 191

Regulation of translation initiation factors by signal transduction

Kleijn, M., Scheper, G. C., Voorma, H. O., & Thomas, A. A. M. (1998) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1998.2530531.x · Cited by 190

Leukoencephalopathy with vanishing white matter: a review

Bugiani, M., Boor, I., Powers, J. M., Scheper, G. C., & van der Knaap, M. S. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181f2eafa · Cited by 189

Phenotypic variation in leukoencephalopathy with vanishing white matter

Rodriguez, D., Gélot, A., van der Knaap, M. S., & Kamphorst, W. (1999) · Neurology · doi:10.1212/wnl.53.6.1373 · Cited by 189

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

Pareyson, D., Fancellu, R., Mariotti, C., Romano, S., Salmaggi, A., Carella, F., Girotti, F., Gattellaro, G., Carriero, M. R., Farina, L., et al. (2008) · Brain · doi:10.1093/brain/awn178 · Cited by 187

Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites

Trajkovic, K., Dhaunchak, A. S., Goncalves, J. T., Wenzel, D., Schneider, A., Bunt, G., Nave, K.-A., & Simons, M. (2006) · The Journal of Cell Biology · doi:10.1083/jcb.200509022 · Cited by 186

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, R. J., Vanderver, A. L., Leventer, R. J., Damiani, S. A., Simons, C., Grimmond, S. M., Miller, D. K., Schmidt, J., Lockhart, P. J., Pope, K., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.006 · Cited by 186

Role of the oligodendroglial cytoskeleton in differentiation and myelination

Bauer, N. G., Richter‐Landsberg, C., & ffrench‐Constant, C. (2009) · Glia · doi:10.1002/glia.20885 · Cited by 184

Eine eigenartige familiär-hereditäre erkrankungsform (Aplasia axialis extracorticalis congenita)

Merzbacher, L. (1910) · Zeitschrift für die gesamte Neurologie und Psychiatrie · doi:10.1007/bf02893591 · Cited by 184

Sulfatides trigger increase of cytosolic free calcium and enhanced expression of tumor necrosis factor-alpha and interleukin-8 mRNA in human neutrophils. Evidence for a role of L-selectin as a signaling molecule.

Laudanna, C., Constantin, G., Baron, P., Scarpini, E. A., Scarlato, G., Cabrini, G., Dechecchi, M. C., Rossi, F., Cassatella, M. A., & Berton, G. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)41736-4 · Cited by 182

Integrins direct Src family kinases to regulate distinct phases of oligodendrocyte development

Colognato, H., Ramachandrappa, S., Olsen, I. M. L., & ffrench‐Constant, C. (2004) · The Journal of Cell Biology · doi:10.1083/jcb.200404076 · Cited by 182

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, C., Bugiani, M., Dupuits, C., Damien Galanaud, E., Touitou, V., Postma, N. L., van Berkel, C. G. M., Polder, E., Tollard, É., Darios, F. D., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70053-x · Cited by 181

Diffuse White Matter Disease in Three Children: An Encephalopathy with Unique Features on Magnetic Resonance Imaging and Proton Magnetic Resonance Spectroscopy

Hanefeld, F. A., Holzbach, U., Kruse, B., Wilichowski, E., Christen, H. ‐., & Frahm, J. (1993) · Neuropediatrics · doi:10.1055/s-2008-1071551 · Cited by 180

Axonal pathology in myelin disorders

Bjartmar, C., Yin, X., & Trapp, B. D. (1999) · Journal of Neurocytology · doi:10.1023/a:1007010205037 · Cited by 180

Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

Hersheson, J., Mencacci, N. E., Davis, M. B., MacDonald, N., Trabzuni, D., Ryten, M., Pittman, A. M., Paudel, R., Kara, E., Fawcett, K. A., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23832 · Cited by 179

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Wibom, R., Lasorsa, F. M., Töhönen, V., Barbaro, M., Sterky, F. H., Kucinski, T., Naess, K., Jönsson, M., Pierri, C. L., Palmieri, F., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0900591 · Cited by 175

A molecular insight of Hes5‐dependent inhibition of myelin gene expression: old partners and new players

Liu, A., Li, J., Marin‐Husstege, M., Kageyama, R., Fan, Y., Gélinas, C., & Casaccia‐Bonnefil, P. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7601352 · Cited by 173

Infantile type of so-called neuronal ceroid-lipofuscinosis

Haltia, M., Rapola, J., & Santavuori, P. (1973) · Acta Neuropathologica · doi:10.1007/bf00697751 · Cited by 171

eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

van der Knaap, M. S., van Berkel, C. G. M., Herms, J. W., Coster, R. V., Baethmann, M., Naidu, S., Boltshauser, E., Willemsen, M. A. A. P., Plecko, B., Hoffmann, G. F., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/379524 · Cited by 169

Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes

Simons, M., Krämer, E.-M., Macchi, P., Rathke-Hartlieb, S., Trotter, J., Nave, K.-A., & Schulz, J. B. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200110138 · Cited by 168

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

van der Knaap, M. S., Boor, I., & Estévez, R. (2012) · The Lancet Neurology · doi:10.1016/s1474-4422(12)70192-8 · Cited by 167

CSF1R mutations link POLD and HDLS as a single disease entity

Nicholson, A. M., Baker, M. C., Finch, N. A., Rutherford, N. J., Wider, C. W., Graff‐Radford, N. R., Nelson, P. T., Clark, H. B., Wszołek, Z. K., Dickson, D. W., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e31828726a7 · Cited by 162

Astrocytes are central in the pathomechanisms of vanishing white matter

Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A. F., van de Kreeke, A., Jacobs, G., Vuong, C., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci83908 · Cited by 162

Intrinsic and extrinsic control of oligodendrocyte development

Zuchero, J. B., & Barres, B. A. (2013) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2013.06.005 · Cited by 160

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

Rash, J. E. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.10.028 · Cited by 159

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Lohmann, K., Wilcox, R. A., Winkler, S., Ramı́rez, A., Raković, A., Park, J., Arns, B., Lohnau, T., Groen, J. L., Kasten, M., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23829 · Cited by 157

The neuropathology of phenylketonuria: human and animal studies

Huttenlocher, P. R. (2000) · European Journal of Pediatrics · doi:10.1007/pl00014371 · Cited by 154

Galectin-3 drives oligodendrocyte differentiation to control myelin integrity and function

Pasquini, L. A., Millet, V, Hoyos, H. C., Giannoni, J. P., Croci, D. O., Marder, M., Liu, F. T., Rabinovich, G. A., & Pasquini, J. M. (2011) · Cell Death & Differentiation · doi:10.1038/cdd.2011.40 · Cited by 152

Alexander's disease

RUSSO, L. S., Aron, A. M., & Anderson, P. J. (1976) · Neurology · doi:10.1212/wnl.26.7.607 · Cited by 152

Electrical stimulation of the medullary pyramid promotes proliferation and differentiation of oligodendrocyte progenitor cells in the corticospinal tract of the adult rat

Li, Q., Brus-Ramer, M., Martin, J. H., & McDonald, J. W. (2010) · Neuroscience Letters · doi:10.1016/j.neulet.2010.05.043 · Cited by 150

Untitled work

(1984) · PubMed · Cited by 150

Inflammation and white matter damage in vascular cognitive impairment

Rosenberg, G. A. (2009) · Stroke · doi:10.1161/strokeaha.108.533133 · Cited by 149

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics · doi:10.1038/ng.3661 · Cited by 148

Alexander disease

van der Knaap, M. S., Ramesh, V., Schiffmann, R., Blasér, S., Kyllerman, M., Gholkar, A. R., Ellison, D. W., van der Voorn, J. P., van Dooren, S. J. M., Jakobs, C., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000198770.80743.37 · Cited by 146

Panglial Gap Junctional Communication is Essential for Maintenance of Myelin in the CNS

Tress, O., Maglione, M., May, D., Pivneva, T. A., Richter, N., Seyfarth, J., Binder, S., Zlomuzica, A., Seifert, G., Theis, M., et al. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.0392-12.2012 · Cited by 146

GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a ClC-2 Cl− Channel Auxiliary Subunit

Jeworutzki, E., López-Hernández, T., Capdevila‐Nortes, X., Sirisi, S., Bengtsson, L., Montolio, M., Zifarelli, G., Arnedo, T., Müller, C. S., Schulte, U., et al. (2012) · Neuron · doi:10.1016/j.neuron.2011.12.039 · Cited by 145

ALEXANDER'S DISEASE

Borrett, D. S., & Becker, L. E. (1985) · Brain · doi:10.1093/brain/108.2.367 · Cited by 145

Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course

van der Knaap, M. S., Barth, P. G., Vrensen, G. F. J. M., & Valk, J. (1996) · Acta Neuropathologica · doi:10.1007/s004010050510 · Cited by 140

Neuropathology: A Reference Text of CNS Pathology

Ellison, D. (1998) · Cited by 140

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature

Marotti, J. D., Tobias, S., Fratkin, J. D., Powers, J. M., & Rhodes, C. H. (2004) · Acta Neuropathologica · doi:10.1007/s00401-004-0847-x · Cited by 139

Defective Glial Maturation in Vanishing White Matter Disease

Bugiani, M., Boor, I., van Kollenburg, B., Postma, N. L., Polder, E., van Berkel, C. G. M., van Kesteren, R. E., Windrem, M. S., Hol, E. M., Scheper, G. C., et al. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e318203ae74 · Cited by 139

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

van der Knaap, M. S., Naidu, S., Pouwels, P. J. W., Bonavita, S., Coster, R. V., Lagae, L. G., Sperner, J., Surtees, R. A. H., Schiffmann, R., & Valk, J. (2002) · PubMed Central · Cited by 138

Bone Morphogenetic Protein Signaling and Olig1/2 Interact to Regulate the Differentiation and Maturation of Adult Oligodendrocyte Precursor Cells

Cheng, X., Wang, Y., He, Q., Qiu, M. S., Whittemore, S. R., & Cao, Q. (2007) · Stem Cells · doi:10.1634/stemcells.2007-0284 · Cited by 136

An Integrin–Contactin Complex Regulates CNS Myelination by Differential Fyn Phosphorylation

Laursen, L. S., Chan, C. W., & ffrench‐Constant, C. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.5942-08.2009 · Cited by 133

Netrin 1 and Dcc regulate oligodendrocyte process branching and membrane extension via Fyn and RhoA

Rajasekharan, S., Baker, K. A., Horn, K. E., Jarjour, A. A., Antel, J. P., & Kennedy, T. E. (2009) · Development · doi:10.1242/dev.018234 · Cited by 129

Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

Mahammad, S., Murthy, S. N. P., Didonna, A., Grin, B., Israeli, E., Perrot, R., Bomont, P., Julien, J., Kuczmarski, E. R., Opal, P., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci66387 · Cited by 129

Nonactivated microglia promote oligodendrocyte precursor survival and maturation through the transcription factor NF‐κB

Nicholas, R. S., Wing, M. G., & Compston, A. (2001) · European Journal of Neuroscience · doi:10.1046/j.0953-816x.2001.01470.x · Cited by 129

Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS

Konno, T., Tada, M., Tada, M., Koyama, A., Nozaki, H., Harigaya, Y., Nishimiya, J., Matsunaga, A., Yoshikura, N., Ishihara, K., et al. (2013) · Neurology · doi:10.1212/wnl.0000000000000046 · Cited by 128

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

Fogli, A., Wong, K., Eymard-Pierre, É., Wenger, J. B., Bouffard, J., Goldin, E., Black, D. N., Boespflug‐Tanguy, O., & Schiffmann, R. (2002) · Annals of Neurology · doi:10.1002/ana.10339 · Cited by 125

EIF2B5 mutations compromise GFAP+ astrocyte generation in vanishing white matter leukodystrophy

Dietrich, J., Lacagnina, M., Gass, D. A., Richfield, E. K., Mayer‐Pröschel, M., Noble, M., Torres, C., & Pröschel, C. (2005) · Nature Medicine · doi:10.1038/nm1195 · Cited by 123

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Hamilton, E. M. C., Polder, E., Vanderver, A. L., Naidu, S., Schiffmann, R., Fisher, K., Raguž, A. B., Blumkin, L., van Berkel, C. G. M., Waisfisz, Q., et al. (2014) · Brain · doi:10.1093/brain/awu110 · Cited by 122

Gap junctions in inherited human disorders of the central nervous system

Abrams, C. K., & Scherer, S. S. (2011) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2011.08.015 · Cited by 120

Metachromatic leukodystrophy: an overview of current and prospective treatments

Biffi, A., Lucchini, G., Rovelli, A., & Sessa, M. (2008) · Bone Marrow Transplantation · doi:10.1038/bmt.2008.275 · Cited by 116

Can MR Imaging Diagnose Adult-Onset Alexander Disease?

Farina, L., Pareyson, D., Minati, L., Ceccherini, I., Chiapparini, L., Romano, S., Gambaro, P. I., Fancellu, R., & Savoiardo, M. (2008) · American Journal of Neuroradiology · doi:10.3174/ajnr.a1060 · Cited by 114

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Sundal, C., van Gerpen, J. A., Nicholson, A. M., Wider, C. W., Shuster, E. A., Aasly, J. O., Spina, S., Ghetti, B. F., Roeber, S., Garbern, J. Y., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318263575a · Cited by 113

Update on leukodystrophies: A historical perspective and adapted definition

Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M. (2016) · Neuropediatrics · doi:10.1055/s-0036-1588020 · Cited by 112

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Lesnik Oberstein, S. A. M. J., & van der Knaap, M. S. (2016) · Neurology · doi:10.1212/wnl.0000000000003251 · Cited by 111

Suppression of GFAP toxicity by αB-crystallin in mouse models of Alexander disease

Hagemann, T. L., Boelens, W. C., Wawrousek, E. F., & Messing, A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp013 · Cited by 111

Mutations in α- and β-tubulin encoding genes: Implications in brain malformations

Romaniello, R., Arrigoni, F., Bassi, M. T., & Borgatti, R. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.06.002 · Cited by 109

MLC1: A Novel Protein in Distal Astroglial Processes

Boor, P. K. I., de Groot, K., Waisfisz, Q., Kamphorst, W., Oudejans, C. B. M., Powers, J. M., Pronk, J. C., Scheper, G. C., & van der Knaap, M. S. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.5.412 · Cited by 108

Stimulation of in vitro myelin synthesis by microglia

Hamilton, S. P., & Rome, L. H. (1994) · Glia · doi:10.1002/glia.440110405 · Cited by 108

LINGO-1, a Transmembrane Signaling Protein, Inhibits Oligodendrocyte Differentiation and Myelination through Intercellular Self-interactions

Jepson, S., Vought, B. W., Gross, C. H., Gan, L., Austen, D. A., Frantz, J. D., Zwahlen, J., Lowe, D., Markland, W., & Krauss, R. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.366179 · Cited by 108

Astrocytes produce interferon‐alpha and CXCL10, but not IL‐6 or CXCL8, in aicardi‐Goutières syndrome

van Heteren, J., Rozenberg, F., Aronica, E., Troost, D., Lebon, P., & Kuijpers, T. W. (2008) · Glia · doi:10.1002/glia.20639 · Cited by 106

Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred

Baba, Y., Ghetti, B., Baker, M. C., Uitti, R. J., Hutton, M. L., Yamaguchi, K., Bird, T., Lin, W., DeLucia, M. W., Dickson, D. W., et al. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0046-z · Cited by 106

Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease

Bugiani, M., Postma, N. L., Polder, E., Dieleman, N., Scheffer, P. G., Sim, F. J., van der Knaap, M. S., & Boor, I. (2013) · Brain · doi:10.1093/brain/aws320 · Cited by 105

β‐Tubulin mutations that cause severe neuropathies disrupt axonal transport

Niwa, S., Takahashi, H., & Hirokawa, N. (2013) · The EMBO Journal · doi:10.1038/emboj.2013.59 · Cited by 104

Synergistic Effects of the SAPK/JNK and the Proteasome Pathway on Glial Fibrillary Acidic Protein (GFAP) Accumulation in Alexander Disease

Tang, G., Xu, Z., & Goldman, J. E. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m604942200 · Cited by 104

Defective biosynthesis of proteolipid protein in pelizaeus‐merzbacher disease

Koeppen, A. H., Ronca, N. A., Greenfield, E. A., & Hans, M. B. (1987) · Annals of Neurology · doi:10.1002/ana.410210208 · Cited by 104

Water transport between CNS compartments: functional and molecular interactions between aquaporins and ion channels

Benfenati, V., & Ferroni, S. (2009) · Neuroscience · doi:10.1016/j.neuroscience.2009.12.017 · Cited by 103

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

López-Hernández, T., Sirisi, S., Capdevila‐Nortes, X., Montolio, M., Fernández‐Dueñas, V., Scheper, G. C., van der Knaap, M. S., Casquero, P., Ciruela, F., Ferrer, I., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr238 · Cited by 102

Oligomers of Mutant Glial Fibrillary Acidic Protein (GFAP) Inhibit the Proteasome System in Alexander Disease Astrocytes, and the Small Heat Shock Protein αB-Crystallin Reverses the Inhibition

Tang, G., Perng, M. D., Wilk, S., Quinlan, R. A., & Goldman, J. E. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.067975 · Cited by 100

Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome

Wong, K., Armstrong, R. C., Gyure, K. A., Morrison, A. L., Rodriguez, D., Matalon, R. K., Johnson, T., Wollmann, R. L., Gilbert, E., Le, T. Q., et al. (2000) · Acta Neuropathologica · doi:10.1007/s004010000234 · Cited by 98

Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

Teijido, Ó., Martı́nez, A., Pusch, M., Zorzano, A., Soriano, E., del Rı́o, J. A., Palacı́n, M., & Estévez, R. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh291 · Cited by 98

Down-regulation of Polysialic Acid Is Required for Efficient Myelin Formation

Fewou, S. N., Ramakrishnan, H., Büssow, H., Gieselmann, V., & Eckhardt, M. (2007) · Journal of Biological Chemistry · doi:10.1074/jbc.m610797200 · Cited by 97

Update on genetic disorders affecting white matter

Kaye, E. M. (2001) · Pediatric Neurology · doi:10.1016/s0887-8994(00)00232-0 · Cited by 97

Childhood White Matter Disorders: Quantitative MR Imaging and Spectroscopy

van der Voorn, J. P., Pouwels, P. J. W., Hart, A. A. M., Serrarens, J., Willemsen, M. A. A. P., Kremer, H. P. H., Barkhof, F., & van der Knaap, M. S. (2006) · Radiology · doi:10.1148/radiol.2412051345 · Cited by 95

Megalencephalic leukodystrophy in an Asian Indian ethnic group

Singhal, B. S., Gursahani, R., Udani, V. P., & Biniwale, A. A. (1996) · Pediatric Neurology · doi:10.1016/0887-8994(96)00048-3 · Cited by 94

C anavan disease: Clinical features and recent advances in research

Hoshino, H., & Kubota, M. (2014) · Pediatrics International · doi:10.1111/ped.12422 · Cited by 93

Genomic approaches to elucidation of the Fhit pathway in worms and yeast: Rosetta Stone and synthetic lethals

Brenner, C. (2001) · Nature Genetics · doi:10.1038/87020 · Cited by 93

Microglia and brain macrophages: An update

Sasaki, A. (2016) · Neuropathology · doi:10.1111/neup.12354 · Cited by 91

Regulation of Eukaryotic Initiation Factor eIF2B

Proud, C. G. (2001) · Progress in molecular and subcellular biology · doi:10.1007/978-3-642-56688-2_4 · Cited by 91

Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle

Dubey, M., Bugiani, M., Ridder, M. C., Postma, N. L., Brouwers, E., Polder, E., Jacobs, J. G., Baayen, J. C., Klooster, J., Kamermans, M., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24307 · Cited by 89

Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids

van der Knaap, M. S., Naidu, S., Kleinschmidt-DeMasters, B. K., Kamphorst, W., & Weinstein, H. C. (2000) · Neurology · doi:10.1212/wnl.54.2.463 · Cited by 88

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

Feinstein, M., Markus, B., Noyman, I., Shalev, H., Flusser, H., Shelef, I., Liani-Leibson, K., Shorer, Z., Cohen, I., Khateeb, S., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.016 · Cited by 88

Myelination

Barnett, S. C., & Linington, C. (2012) · The Neuroscientist · doi:10.1177/1073858412465655 · Cited by 87

Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases

Rodriguez, D., Gélot, A., Gaspera, B. D., Robain, O., Ponsot, G., Sarliève, L. L., Ghandour, S., Pompidou, A. J., Dautigny, A., Aubourg, P. R., et al. (1999) · Acta Neuropathologica · doi:10.1007/s004010051016 · Cited by 87

Gangliosides as apoptotic signals in ER stress response

d’Azzo, A., Tessitore, A., & Sano, R. (2006) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4401834 · Cited by 87

Alexander Disease Mutant Glial Fibrillary Acidic Protein Compromises Glutamate Transport in Astrocytes

Tian, R., Wu, X., Hagemann, T. L., Sosunov, A. A., Messing, A., McKhann, G. M., & Goldman, J. E. (2010) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/nen.0b013e3181d3cb52 · Cited by 86

Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders.

van der Voorn, J. P., Pouwels, P. J. W., Kamphorst, W., Powers, J. M., Lammens, M. M. Y., Barkhof, F., & van der Knaap, M. S. (2005) · PubMed Central · Cited by 86

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients

Kantor, L., Harding, H. P., Ron, D., Schiffmann, R., Kaneski, C. R., Kimball, S. R., & Elroy‐Stein, O. (2005) · Human Genetics · doi:10.1007/s00439-005-0024-x · Cited by 85

Formation of GFAP Cytoplasmic Inclusions in Astrocytes and Their Disaggregation by αB-Crystallin

Kōyama, Y., & Goldman, J. E. (1999) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65409-0 · Cited by 84

Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation

Ridder, M. C., Boor, I., Lodder, J. C., Postma, N. L., Capdevila‐Nortes, X., Duarri, A., Brussaard, A. B., Estévez, R., Scheper, G. C., Mansvelder, H. D., et al. (2011) · Brain · doi:10.1093/brain/awr255 · Cited by 82

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Walker, A. K., Daniels, C. M. L., Goldman, J. E., Trojanowski, J. Q., Lee, V. M. ‐., & Messing, A. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.0248-14.2014 · Cited by 81

Galectin-3 controls the response of microglial cells to limit cuprizone-induced demyelination

Hoyos, H. C., Rinaldi, M., Méndez‐Huergo, S. P., Marder, M., Rabinovich, G. A., Pasquini, J. M., & Pasquini, L. A. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.10.023 · Cited by 79

Inhibitors of myelination: ECM changes, CSPGs and PTPs

Harlow, D. E., & Macklin, W. B. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2013.10.017 · Cited by 79

Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes

Liu, R., van der Lei, H. D. W., Wang, X., Wortham, N. C., Tang, H. P., van Berkel, C. G. M., Mufunde, T. A., Huang, W., van der Knaap, M. S., Scheper, G. C., et al. (2011) · Human Mutation · doi:10.1002/humu.21535 · Cited by 79

Alexander's Disease: Clues to Diagnosis

Pridmore, C. L., Baraitser, M., Harding, B. N., Boyd, S. G., Kendall, B. E., & Brett, E. M. (1993) · Journal of Child Neurology · doi:10.1177/088307389300800205 · Cited by 78

Leukodystrophy in patients with ovarian dysgenesis

Schiffmann, R., Tedeschi, G., Kinkel, R. P., Trapp, B. D., Frank, J. A., Kaneski, C. R., Brady, R. O., Barton, N. W., Nelson, L. M., & Yanovski, J. A. (1997) · Annals of Neurology · doi:10.1002/ana.410410515 · Cited by 77

The Life and Death of Oligodendrocytes in Vanishing White Matter Disease

van Haren, K. P., van der Voorn, J. P., Peterson, D. R., van der Knaap, M. S., & Powers, J. M. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.6.618 · Cited by 76

Protein Misfolding and Oxidative Stress Promote Glial-Mediated Neurodegeneration in an Alexander Disease Model

Wang, L., Colodner, K. J., & Feany, M. Β. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.3410-10.2011 · Cited by 76

Genotype–phenotype correlation in vanishing white matter disease

van der Lei, H. D. W., van Berkel, C. G. M., van Wieringen, W. N., Brenner, C., Feigenbaum, A., Mercimek‐Andrews, S., Philippart, M., Tatlı, B., Wassmer, E., Scheper, G. C., et al. (2010) · Neurology · doi:10.1212/wnl.0b013e3181f962ae · Cited by 75

Dysmyelinogenic Leukodystrophy

Wohlwill, F. J., Bernstein, J., & Yakovlev, P. L. (1959) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-195907000-00001 · Cited by 75

Galactosialidosis: review and analysis of CTSA gene mutations

Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-114 · Cited by 73

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Lanciotti, A., Brignone, M. S., Molinari, P., Visentin, S., Nuccio, C. D., Macchia, G., Aiello, C., Bertini, E., Aloisi, F., Petrucci, T. C., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds032 · Cited by 73

Characterization and quantitative determination of gangliosides and neutral glycosphingolipids in human liver.

Nilsson, O., & Svennerholm, L. T. (1982) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)38163-3 · Cited by 72

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Duarri, A., de Heredia, M. L., Capdevila‐Nortes, X., Ridder, M. C., Montolio, M., López-Hernández, T., Boor, I., Lien, C., Hagemann, T. L., Messing, A., et al. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.03.015 · Cited by 71

Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features

Goldman, J. E., Katz, D., Rapin, I., Purpura, D. P., & Suzuki, K. (1981) · Annals of Neurology · doi:10.1002/ana.410090509 · Cited by 71

GlialCAM, an immunoglobulin‐like cell adhesion molecule is expressed in glial cells of the central nervous system

Favre‐Kontula, L., Rolland, A., Bernasconi, L., Karmirantzou, M., Power, C., Antonsson, B. E., & Boschert, U. (2008) · Glia · doi:10.1002/glia.20640 · Cited by 69

Misalignment of PLP/DM20 Transmembrane Domains Determines Protein Misfolding in Pelizaeus–Merzbacher Disease

Dhaunchak, A. S., Colman, D., & Nave, K. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.2097-11.2011 · Cited by 67

Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal

Wilcox, R. A., Winkler, S., Lohmann, K., & Klein, C. (2011) · Movement Disorders · doi:10.1002/mds.23866 · Cited by 67

TUBB4A de novo mutations cause isolated hypomyelination

Pizzino, A. M., Pierson, T. M., Guo, Y., Helman, G., Fortini, S., Guerrero, K., Saitta, S. C., Murphy, J. L., Padiath, Q. S., Xie, Y., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000754 · Cited by 65

Cardiopulmonary effects of endothelin-1 in man

Kiely, D. G. (1997) · Cardiovascular Research · doi:10.1016/s0008-6363(96)00219-2 · Cited by 65

Myelin in the Central Nervous System: Structure, Function, and Pathology

Stadelmann, C., Timmler, S., Barrantes‐Freer, A., & Simons, M. (2019) · Physiological Reviews · doi:10.1152/physrev.00031.2018 · Cited by 799

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

Oosterhof, N., Chang, I. J., Karimiani, E. G., Kuil, L. E., Jensen, D. M., Daza, R., Young, E., Astle, L., van der Linde, H. C., Shivaram, G. M., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.010 · Cited by 247

Disease-associated oligodendrocyte responses across neurodegenerative diseases

Pandey, S., Shen, K., Lee, S.-H., Shen, Y.-A. A., Wang, Y., Otero-García, M., Kotova, N., Vito, S. T., Laufer, B. I., Newton, D. F., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111189 · Cited by 227

CSF1R -related leukoencephalopathy: A major player in primary microgliopathies

Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K. (2018) · Neurology · doi:10.1212/wnl.0000000000006642 · Cited by 208

White matter degeneration in vascular and other ageing‐related dementias

Hase, Y., Horsburgh, K. J., Ihara, M., & Kalaria, R. N. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14271 · Cited by 214

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

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

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

Ashrafi, M. R., Amanat, M., Garshasbi, M., Kameli, R., Nilipour, Y., Heidari, M., Rezaei, Z., & Tavasoli, A. R. (2020) · Figshare · doi:10.6084/m9.figshare.13078446