Adult-Onset Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Normal Lactate: Case Report

by Özdem Ertürk, Cengiz Yalçınkaya, Aksel Siva, Marjo S van der Knaap
Published 2010-06-01

Adult-Onset Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Normal Lactate: Case Report

by Özdem Ertürk, Cengiz Yalçınkaya, Aksel Siva, Marjo S van der Knaap
Published 2010-06-01

Atypical presentation of vanishing white matter disease Ataxia da infância com hipomielinização central atípica

by Lucia Maria da Costa Fontenelle, Gert C. Scheper, Lara Brandão, Marjo S. van der Knaap
Published 2008-09-01

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy

by Wouter J. C. van Ballegoij, Wouter J. C. van Ballegoij, Stephanie I. W. van de Stadt, Irene C. Huffnagel, Stephan Kemp, Stephan Kemp, Marjo S. van der Knaap, Marjo S. van der Knaap, Marc Engelen
Published 2020-07-01

Pathology of the neurovascular unit in leukodystrophies

by Parand Zarekiani, Marjolein Breur, Nicole I. Wolf, Helga E. de Vries, Marjo S. van der Knaap, Marianna Bugiani
Published 2021-06-01

Cell Replacement Therapy Improves Pathological Hallmarks in a Mouse Model of Leukodystrophy Vanishing White Matter

by Stephanie Dooves, Prisca S. Leferink, Sander Krabbenborg, Nicole Breeuwsma, Saskia Bots, Anne E.J. Hillen, Gerbren Jacobs, Marjo S. van der Knaap, Vivi M. Heine
Published 2019-03-01

Cerebellar ataxia as the first manifestation of Alexander's disease

by Sheyla Ariêh de Souza Rezende, Maurício Fernandes, Renato Puppi Munhoz, Salmo Raskin, Arthur Oscar Schelp, Marjo S. van der Knaap, Hélio A. G. Teive
Published 2012-04-01

Regulation of protein synthesis in lymphoblasts from vanishing white matter patients

by Barbara van Kollenburg, Adri A.M. Thomas, Gerre Vermeulen, Gesina A.M. Bertrand, Carola G.M. van Berkel, Jan C. Pronk, Christopher G. Proud, Marjo S. van der Knaap, Gert C. Scheper
Published 2006-03-01

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations

by Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. deEsch, Chris deGraaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. van derKnaap
Published 2021-03-01

Proteomic and Metabolomic Analyses of Vanishing White Matter Mouse Astrocytes Reveal Deregulation of ER Functions

by Lisanne E. Wisse, Renske Penning, Esther A. Zaal, Carola G. M. van Berkel, Timo J. ter Braak, Emiel Polder, Justin W. Kenney, Christopher G. Proud, Celia R. Berkers, Maarten A. F. Altelaar, Dave Speijer, Marjo S. van der Knaap, Truus E. M. Abbink
Published 2017-12-01

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

by Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C. Ridder, Marisol Montolio, Tania López-Hernández, Ilja Boor, Chun-Fu Lien, Tracy Hagemann, Albee Messing, Dariusz C. Gorecki, Gert C. Scheper, Albert Martínez, Virginia Nunes, Marjo S. van der Knaap, Raúl Estévez
Published 2011-07-01

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

by Nicole I. Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. vanRappard, Sharon I. deVries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van derKnaap, Caroline A. Lindemans, Peter M. vanHasselt, Jaap J. Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani
Published 2020-02-01

Specific MRI abnormalities reveal severe Perrault syndrome due to CLPP defects

by Tom EJ Theunissen, Tom EJ Theunissen, Radek Szklarczyk, Mike Gerards, Debby MEI Hellebrekers, Elvira NM Mulder-Den Hartog, Jo Vanoevelen, Rick Kamps, Bart de Koning, S Lane Rutledge, Thomas Schmitt-Mechelke, Carola GM van Berkel, Marjo S van der Knaap, Irenaeus FM de Coo, Hubert JM Smeets, Hubert JM Smeets, Hubert JM Smeets
Published 2016-11-01

Vanishing white matter: deregulated integrated stress response as therapy target

by Truus E. M. Abbink, Lisanne E. Wisse, Ermelinda Jaku, Michiel J. Thiecke, Daniel Voltolini‐González, Hein Fritsen, Sander Bobeldijk, Timo J. terBraak, Emiel Polder, Nienke L. Postma, Marianna Bugiani, Eduard A. Struijs, Mark Verheijen, Nina Straat, Sophie van derSluis, Adri A. M. Thomas, Douwe Molenaar, Marjo S. van derKnaap
Published 2019-08-01

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

by Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Published 2020-01-01

Genome sequencing in persistently unsolved white matter disorders

by Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Published 2020-01-01