Clinical features and X-inactivation in females heterozygous for creatine transporter defect by van de Kamp, JM, Mancini, GMS, Pouwels, PJW, Betsalel, OT, van Dooren, SJM, de Koning, I, Steenweg, ME, Jakobs, C, van der Knaap, MS, Salomons, GS

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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants by Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 by Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.

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Leukoencephalopathy With Vanishing White Matter: A Review by Bugiani, Marianna, Boor, Ilja, Powers, James M, Scheper, Gert C, van der Knaap, Marjo S

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Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly by Gould, Douglas B., Phalan, F. Campbell, Breedveld, Guido J., van Mil, Saskia E., Smith, Richard S., Schimenti, John C., Aguglia, Umberto, van der Knaap, Marjo S., Heutink, Peter, Simon W. M. John

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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs by van der Knaap, Marjo S., van Berkel, Carola G.M., Herms, Jochen, van Coster, Rudy, Baethmann, Martina, Naidu, Sakkubai, Boltshauser, Eugen, Willemsen, Michèl A.A.P., Plecko, Barbara, Hoffmann, Georg F., Proud, Christopher G., Scheper, Gert C., Pronk, Jan C.

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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease by Li, Rong, Johnson, Anne B., Salomons, Gajja, Goldman, James E., Naidu, Sakkubai, Quinlan, Roy, Cree, Bruce, Ruyle, Stephanie Z., Banwell, Brenda, D'Hooghe, Marc, Siebert, Joseph R., Rolf, Cristin M., Cox, Helen, Reddy, Alyssa, Gutiérrez-Solana, Luis González, Collins, Amanda, Weller, Roy O., Messing, Albee, van der Knaap, Marjo S., Brenner, Michael

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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation by GARBERN, James Y, YOOL, Donald A, SHY, Michael E, KAMHOLZ, John A, GRIFFITHS, Ian R, MOORE, Gregory J, WILDS, Ian B, FAULK, Michael W, KLUGMANN, Matthias, NAVE, Klaus-Amin, SISTERMANS, Erik A, VAN DER KNAAP, Marjo S, BIRD, Thomas D

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Correlating Quantitative MR Imaging with Histopathology in X-Linked Adrenoleukodystrophy by VAN DER VOORN, J. P, POUWELS, P. J. W, POWERS, J. M, KAMPHORST, W, MARTIN, J.-J, TROOST, D, SPREEUWENBERG, M. D, BARKHOF, F, VAN DER KNAAP, M. S

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Mutations of MLC1 ( KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts by Leegwater, Peter A.J., Yuan, Bao Qiang, van der Steen, Jeffrey, Mulders, Joyce, Könst, Andrea A.M., Boor, P. K. Ilja, Mejaski-Bosnjak, Vlatka, van der Maarel, Silvère M., Frants, Rune R., Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C., van der Knaap, Marjo S.

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Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: A genetically proven case with distinct MRI findings by Uluc, Kayihan, Baskan, Ozdil, Yildirim, Kadriye Agan, Ozsahin, Selda, Koseoglu, Mesrure, Isak, Baris, Scheper, G.C, Gunal, Dilek Ince, van der Knaap, M.S

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Neonatal porencephaly and adult stroke related to mutations in collagen IV A1 by van der Knaap, Marjo S., Smit, Leo M. E., Barkhof, Frederik, Pijnenburg, Yolande A. L., Zweegman, Sonja, Niessen, Hans W. M., Imhof, Saskia, Heutink, Peter

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The Unfolded Protein Response in Vanishing White Matter Disease by van der Voorn, J Patrick, van Kollenburg, Barbara, Bertrand, Gesina, Van Haren, Keith, Scheper, Gert C, Powers, James M, van der Knaap, Marjo S

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Alexander Disease: Diagnosis with MR Imaging by van der Knaap, Marjo S, Naidu, Sakkubai, Breiter, Steven N, Blaser, Susan, Stroink, Hans, Springer, Stephan, Begeer, Jacobus C, van Coster, Rudy, Barth, Peter G, Thomas, Neil H, Valk, Jacob, Powers, James M

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter by van der Knaap, Marjo S., Leegwater, Peter A. J., Könst, Andrea A.M., Visser, Allerdien, Naidu, Sakkubai, Oudejans, Cees B.M., Schutgens, Ruud B.H., Pronk, Jan C.

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Ribose-5-Phosphate Isomerase Deficiency: New Inborn Error in the Pentose Phosphate Pathway Associated with a Slowly Progressive Leukoencephalopathy by Huck, Jojanneke H.J., Verhoeven, Nanda M., Struys, Eduard A., Salomons, Gajja S., Jakobs, Cornelis, van der Knaap, Marjo S.

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Glia-Specific Activation of All Pathways of the Unfolded Protein Response in Vanishing White Matter Disease by van Kollenburg, Barbara, van Dijk, Jantine, Garbern, James, Thomas, Adri A. M, Scheper, Gert C, Powers, James M, van der Knaap, Marjo S

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Mutations Linked to Leukoencephalopathy with Vanishing White Matter Impair the Function of the Eukaryotic Initiation Factor 2B Complex in Diverse Ways by Li, Wei, Wang, Xuemin, van der Knaap, Marjo S., Proud, Christopher G.

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A new leukodystrophy with brainstem and spinal cord involvement and high lactate by VAN DER KNAAP, Marjo S, VAN DER VOORN, Patrick, BARKHOF, Frederik, VAN COSTER, Rudy, KRÄGELOH-MANN, Ingeborg, FEIGENBAUM, Annette, BLASER, Susan, VLES, Johan S. H, RIECKMANN, Peter, POUWELS, Petra J. W

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Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly by Morris-Rosendahl, DJ, Najm, J, Lachmeijer, AMA, Sztriha, L, Martins, M, Kuechler, A, Haug, V, Zeschnigk, C, Martin, P, Santos, M, Vasconcelos, C, Omran, H, Kraus, U, Van der Knaap, MS, Schuierer, G, Kutsche, K, Uyanik, G

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