Stem cell therapy for white matter disorders: don’t forget the microenvironment!

by Dooves, Stephanie, van der Knaap, Marjo S., Heine, Vivi M.
Published 2016

Progress in understanding 2-hydroxyglutaric acidurias

by Kranendijk, Martijn, Struys, Eduard A., Salomons, Gajja S., Van der Knaap, Marjo S., Jakobs, Cornelis
Published 2012

Interferon-α and the calcifying microangiopathy in Aicardi–Goutières syndrome

by Klok, Melanie D, Bakels, Hannah S, Postma, Nienke L, van Spaendonk, Rosalina M L, van der Knaap, Marjo S, Bugiani, Marianna
Published 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

by Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève
Published 2015

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

by van der Pol, Rachel J., Benninga, Marc A., Magré, Jocelyne, Van Maldergem, Lionel, Rotteveel, Joost, van der Knaap, Marjo S., de Meij, Tim G.
Published 2015

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet

by Boor, Ilja, Nagtegaal, Machiel, Kamphorst, Wouter, van der Valk, Paul, Pronk, Jan C., van Horssen, Jack, Dinopoulos, Argirios, Bove, Kevin E., Pascual-Castroviejo, Ignacio, Muntoni, Francesco, Estévez, Raúl, Scheper, Gert C., van der Knaap, Marjo S.
Published 2007

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy

by Tillema, Jan-Mendelt, Derks, Marloes GM, Pouwels, Petra J W, de Graaf, Pim, van Rappard, Diane F, Barkhof, Frederik, Steenweg, Marjan E, van der Knaap, Marjo S, Wolf, Nicole I
Published 2015

Ubiquitous L1 Mosaicism in Hippocampal Neurons

by Upton, Kyle R., Gerhardt, Daniel J., Jesuadian, J. Samuel, Richardson, Sandra R., Sánchez-Luque, Francisco J., Bodea, Gabriela O., Ewing, Adam D., Salvador-Palomeque, Carmen, van der Knaap, Marjo S., Brennan, Paul M., Vanderver, Adeline, Faulkner, Geoffrey J.
Published 2015

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

by van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.
Published 2011

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

by Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.
Published 2016

CSF and Blood Levels of GFAP in Alexander Disease

by Jany, Paige L., Agosta, Guillermo E., Benko, William S., Eickhoff, Jens C., Keller, Stephanie R., Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L., Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S., Messing, Albee
Published 2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures

by Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
Published 2015

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

by Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève
Published 2015

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

by Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Published 2016