Marjo S. van der Knaap
Department of Pediatrics/Child Neurology
VU University Medical Centre
Amsterdam
Netherlands. Electronic address:
Name/email consistency: high
- Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis. van der Knaap, M.S., Boor, I., Estévez, R. Lancet. Neurol (2012)
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Steenweg, M.E., Ghezzi, D., Haack, T., Abbink, T.E., Martinelli, D., van Berkel, C.G., Bley, A., Diogo, L., Grillo, E., Te Water Naudé, J., Strom, T.M., Bertini, E., Prokisch, H., van der Knaap, M.S., Zeviani, M. Brain (2012)
- Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation. Ridder, M.C., Boor, I., Lodder, J.C., Postma, N.L., Capdevila-Nortes, X., Duarri, A., Brussaard, A.B., Estévez, R., Scheper, G.C., Mansvelder, H.D., van der Knaap, M.S. Brain (2011)
- Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging. Steenweg, M.E., Pouwels, P.J., Wolf, N.I., van Wieringen, W.N., Barkhof, F., van der Knaap, M.S. Brain (2011)
- Cerebellar leukoencephalopathy: most likely histiocytosis-related. van der Knaap, M.S., Arts, W.F., Garbern, J.Y., Hedlund, G., Winkler, F., Barbosa, C., King, M.D., Bjørnstad, A., Hussain, N., Beyer, M.K., Gomez, C., Patterson, M.C., Grattan-Smith, P., Timmons, M., van der Valk, P. Neurology (2008)
- Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology. van der Knaap, M.S., Linnankivi, T., Paetau, A., Feigenbaum, A., Wakusawa, K., Haginoya, K., Köhler, W., Henneke, M., Dinopoulos, A., Grattan-Smith, P., Brockmann, K., Schiffmann, R., Blaser, S. Neurology (2007)
- MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Boor, I., Nagtegaal, M., Kamphorst, W., van der Valk, P., Pronk, J.C., van Horssen, J., Dinopoulos, A., Bove, K.E., Pascual-Castroviejo, I., Muntoni, F., Estévez, R., Scheper, G.C., van der Knaap, M.S. Acta Neuropathol. (2007)
- Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. van der Knaap, M.S., Smit, L.M., Barkhof, F., Pijnenburg, Y.A., Zweegman, S., Niessen, H.W., Imhof, S., Heutink, P. Ann. Neurol. (2006)
- Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. van der Knaap, M.S., Ramesh, V., Schiffmann, R., Blaser, S., Kyllerman, M., Gholkar, A., Ellison, D.W., van der Voorn, J.P., van Dooren, S.J., Jakobs, C., Barkhof, F., Salomons, G.S. Neurology (2006)
- Vanishing white matter disease. van der Knaap, M.S., Pronk, J.C., Scheper, G.C. Lancet. Neurol (2006)
- Unusual variants of Alexander's disease. van der Knaap, M.S., Salomons, G.S., Li, R., Franzoni, E., Gutiérrez-Solana, L.G., Smit, L.M., Robinson, R., Ferrie, C.D., Cree, B., Reddy, A., Thomas, N., Banwell, B., Barkhof, F., Jakobs, C., Johnson, A., Messing, A., Brenner, M. Ann. Neurol. (2005)
- Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. van der Knaap, M.S., Leegwater, P.A., van Berkel, C.G., Brenner, C., Storey, E., Di Rocco, M., Salvi, F., Pronk, J.C. Neurology (2004)
- A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. van der Knaap, M.S., van der Voorn, P., Barkhof, F., Van Coster, R., Krägeloh-Mann, I., Feigenbaum, A., Blaser, S., Vles, J.S., Rieckmann, P., Pouwels, P.J. Ann. Neurol. (2003)
- eIF2B-related disorders: antenatal onset and involvement of multiple organs. van der Knaap, M.S., van Berkel, C.G., Herms, J., van Coster, R., Baethmann, M., Naidu, S., Boltshauser, E., Willemsen, M.A., Plecko, B., Hoffmann, G.F., Proud, C.G., Scheper, G.C., Pronk, J.C. Am. J. Hum. Genet. (2003)
- Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. van der Knaap, M.S., Leegwater, P.A., Könst, A.A., Visser, A., Naidu, S., Oudejans, C.B., Schutgens, R.B., Pronk, J.C. Ann. Neurol. (2002)