Adult mouse eIF2Bε Arg191His astrocytes display a normal integrated stress response in vitro

por Wisse, Lisanne E., ter Braak, Timo J., van de Beek, Malu-Clair, van Berkel, Carola G. M., Wortel, Joke, Heine, Vivi M., Proud, Chris G., van der Knaap, Marjo S., Abbink, Truus E. M.
Publicado 2018

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

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

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

por 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.
Publicado 2016

Altered PLP1 splicing causes hypomyelination of early myelinating structures

por 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
Publicado 2015