Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms von van der Knaap, Marjo S., Bugiani, Marianna

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Reply to “Type I IFN Signature in NOTCH1‐Related Leukoencephalopathy” von Verhoeven, Dorit, Tromp, Samantha A. M., Knaap, Marjo S., Kuijpers, Taco W.

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Neuron‐specific translational control shift ensures proteostatic resilience during ER stress von Wolzak, Kimberly, Nölle, Anna, Farina, Margherita, Abbink, Truus EM, van der Knaap, Marjo S, Verhage, Matthijs, Scheper, Wiep

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Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy von Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.

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Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter von Leferink, Prisca S., Dooves, Stephanie, Hillen, Anne E. J., Watanabe, Kyoko, Jacobs, Gerbren, Gasparotto, Lisa, Cornelissen‐Steijger, Paulien, Knaap, Marjo S., Heine, Vivi M.

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Heterogeneity of white matter astrocytes in the human brain von Bugiani, Marianna, Plug, Bonnie C., Man, Jodie H. K., Breur, Marjolein, van der Knaap, Marjo S.

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Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders von Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser‐Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.

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Invited Article : An MRI-based approach to the diagnosis of white matter disorders von SCHIFFMANN, Raphael, VAN DER KNAAP, Marjo S

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Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study von Stellitano, Lesley A, Winstone, Anne Marie, Knaap, Marjo S, Verity, Christopher M

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Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophy von Al‐Saady, Murtadha L., Galabova, Hristina, Schoenmakers, Daphne H., Beerepoot, Shanice, Lindemans, Caroline, Hasselt, Peter M., Knaap, Marjo S., Wolf, Nicole I., Pouwels, Petra J. W.

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A novel role for MLC1 in regulating astrocyte–synapse interactions von Kater, Mandy S. J., Baumgart, Katharina F., Badia‐Soteras, Aina, Heistek, Tim S., Carney, Karen E., Timmerman, A. Jacob, Weering, Jan R. T., Smit, August B., Knaap, Marjo S., Mansvelder, Huibert D., Verheijen, Mark H. G., Min, Rogier

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Vanishing white matter: a leukodystrophy due to astrocytic dysfunction von Bugiani, Marianna, Vuong, Caroline, Breur, Marjolein, van der Knaap, Marjo S.

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Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism von López-Hernández, Tania, Ridder, Margreet C., Montolio, Marisol, Capdevila-Nortes, Xavier, Polder, Emiel, Sirisi, Sònia, Duarri, Anna, Schulte, Uwe, Fakler, Bernd, Nunes, Virginia, Scheper, Gert C., Martínez, Albert, Estévez, Raúl, van der Knaap, Marjo S.

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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency von Klouwer, Femke C C, Roosendaal, Stefan D, Hollak, Carla E M, Langeveld, Mirjam, Poll-The, Bwee Tien, Sorge, Arlette J van, Wolf, Nicole I, Knaap, Marjo S van der, Engelen, Marc

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Genetic defects disrupting glial ion and water homeostasis in the brain von Min, Rogier, van der Knaap, Marjo S.

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Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease von Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola

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Five men with arresting and relapsing cerebral adrenoleukodystrophy von Carlson, Aaron M., Huffnagel, Irene C., Verrips, Aad, van der Knaap, Marjo S., Engelen, Marc, Van Haren, Keith

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Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency von Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo

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Letter to the Editor: The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted von Hamilton, Eline M C, Topaloglu, Pinar, Sinha, Jigyasha, Nicita, Francesco, Bernard, Geneviève, Fatemi, S Ali, van der Knaap, Marjo S

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Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity von Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F.M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J.W., Bevova, Marianna R., Abbink, Truus E.M., van der Knaap, Marjo S., Wolf, Nicole I.

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