Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective von Beerepoot, Shanice, Nierkens, Stefan, Boelens, Jaap Jan, Lindemans, Caroline, Bugiani, Marianna, Wolf, Nicole I

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Case definition and classification of leukodystrophies and leukoencephalopathies von Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Marc C., Van Hove, Johan L.K., Schmidt, Johanna, Wolf, Nicole I., Boespflug-Tanguy, Odile, Schiffmann, Raphael, van der Knaap, Marjo S.

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De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy von Djordjevic, Djurdja, Pinard, Maxime, Gauthier, Marie-Soleil, Smith-Hicks, Constance, Hoffman, Trevor L., Wolf, Nicole I., Oegema, Renske, van Binsbergen, Ellen, Baskin, Berivan, Bernard, Geneviève, Fribourg, Sébastien, Coulombe, Benoit, Yoon, Grace

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Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy von Yan, Huifang, Helman, Guy, Murthy, Swetha E., Ji, Haoran, Crawford, Joanna, Kubisiak, Thomas, Bent, Stephen J., Xiao, Jiangxi, Taft, Ryan J., Coombs, Adam, Wu, Ye, Pop, Ana, Li, Dongxiao, de Vries, Linda S., Jiang, Yuwu, Salomons, Gajja S., van der Knaap, Marjo S., Patapoutian, Ardem, Simons, Cas, Burmeister, Margit, Wang, Jingmin, Wolf, Nicole I.

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A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum von Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Jürgen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J., Vanderver, Adeline

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Aminoacyl-tRNA synthetase deficiencies in search of common themes von Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.

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Hypomyelinating leukodystrophies: Translational research progress and prospects von Pouwels, Petra J. W., Vanderver, Adeline, Bernard, Genevieve, Wolf, Nicole I., Dreha-Kulczewksi, Steffi F., Deoni, Sean C. L., Bertini, Enrico, Kohlschütter, Alfried, Richardson, William, ffrench-Constant, Charles, Köhler, Wolfgang, Rowitch, David, Barkovich, A. James

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Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures von Knierim, Ellen, Hirata, Hiromi, Wolf, Nicole I., Morales-Gonzalez, Susanne, Schottmann, Gudrun, Tanaka, Yu, Rudnik-Schöneborn, Sabine, Orgeur, Mickael, Zerres, Klaus, Vogt, Stefanie, van Riesen, Anne, Gill, Esther, Seifert, Franziska, Zwirner, Angelika, Kirschner, Janbernd, Goebel, Hans Hilmar, Hübner, Christoph, Stricker, Sigmar, Meierhofer, David, Stenzel, Werner, Schuelke, Markus

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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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Mitochondrial Disease: A Practical Approach for Primary Care Physicians von Haas, Richard H, Parikh, Sumit, Falk, Marni J, Saneto, Russell P, Wolf, Nicole I, Darin, Niklas, Cohen, Bruce H

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Occasional seizures, epilepsy, and inborn errors of metabolism von Dulac, Olivier, Prof, Plecko, Barbara, Prof, Gataullina, Svetlana, MD, Wolf, Nicole I, MD

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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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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy init... von Schoenmakers, Daphne H, Beerepoot, Shanice, van den Berg, Sibren, Adang, Laura, Bley, Annette, Boelens, Jaap-Jan, Fumagalli, Francesca, Goettsch, Wim G, Grønborg, Sabine, Groeschel, Samuel, van Hasselt, Peter M, Hollak, Carla E M, Lindemans, Caroline, Mochel, Fanny, Mol, Peter G M, Sevin, Caroline, Zerem, Ayelet, Schöls, Ludger, Wolf, Nicole I

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Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries von Schoenmakers, Daphne H, Mochel, Fanny, Adang, Laura A, Boelens, Jaap-Jan, Calbi, Valeria, Eklund, Erik A, Grønborg, Sabine W, Fumagalli, Francesca, Groeschel, Samuel, Lindemans, Caroline, Sevin, Caroline, Schöls, Ludger, Ram, Dipak, Zerem, Ayelet, Graessner, Holm, Wolf, Nicole I

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Mutations in RARS cause hypomyelination von Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo S., Waisfisz, Quinten

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The in-depth evaluation of suspected mitochondrial disease von Haas, Richard H., Parikh, Sumit, Falk, Marni J., Saneto, Russell P., Wolf, Nicole I., Darin, Niklas, Wong, Lee-Jun, Cohen, Bruce H., Naviaux, Robert K.

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Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction von Panneman, Daan M., Wortmann, Saskia B., Haaxma, Charlotte A., Hasselt, Peter M., Wolf, Nicole I., Hendriks, Yvonne, Küsters, Benno, Emst‐de Vries, Sjenet, Westerlo, Els, Koopman, Werner J.H., Wintjes, Liesbeth, Brandt, Frans, Vries, Maaike, Lefeber, Dirk J., Smeitink, Jan A.M., Rodenburg, Richard J.

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Riboflavin transporter deficiency in young adults unmasked by dietary changes von Jaeger, Bregje, Langeveld, Mirjam, Brunkhorst, Robert, Distelmaier, Felix, Pop, Ana, Wolf, Nicole I., Bosch, Annet M.

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Metachromatic leukodystrophy: Disease spectrum and approaches for treatment von van Rappard, Diane F., MD, Boelens, Jaap Jan, MD, PhD, Wolf, Nicole I., MD, PhD

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Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates von Schoenmakers, Daphne H, Leferink, Prisca S, Vanderver, Adeline, Bonkowsky, Joshua L, Krägeloh-Mann, Ingeborg, Bernard, Geneviève, Bertini, Enrico, Fatemi, Ali, Fogel, Brent L, Wolf, Nicole I, Skwirut, Donna, Buck, Allyson, Holberg, Brett, Saunier-Vivar, Elise F, Rauner, Robert, Dekker, Hanka, van Bokhoven, Pieter, Stellingwerff, Menno D, Berkhof, Johannes, van der Knaap, Marjo S

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