Astrocytes are central in the pathomechanisms of vanishing white matter
Dooves, Stephanie, Bugiani, Marianna, Postma, Nienke L, Polder, Emiel, Land, Niels, Horan, Stephen T, van Deijk, Anne-Lieke F, van de Kreeke, Aleid, Jacobs, Gerbren, Vuong, Caroline, Klooster, Jan, Kamermans, Maarten, Wortel, Joke, Loos, Maarten, Wisse, Lisanne E, Scheper, Gert C, Abbink, Truus E M, Heine, Vivi M, van der Knaap, Marjo S
Published in The Journal of clinical investigation (01.04.2016)
Published in The Journal of clinical investigation (01.04.2016)
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Journal Article
Vanishing white matter: deregulated integrated stress response as therapy target
Abbink, Truus E. M., Wisse, Lisanne E., Jaku, Ermelinda, Thiecke, Michiel J., Voltolini‐González, Daniel, Fritsen, Hein, Bobeldijk, Sander, Braak, Timo J., Polder, Emiel, Postma, Nienke L., Bugiani, Marianna, Struijs, Eduard A., Verheijen, Mark, Straat, Nina, Sluis, Sophie, Thomas, Adri A. M., Molenaar, Douwe, Knaap, Marjo S.
Published in Annals of clinical and translational neurology (01.08.2019)
Published in Annals of clinical and translational neurology (01.08.2019)
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Journal Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
KEVELAM, Sietske H, BUGIANI, Marianna, KANHAI, Warsha A, WOLF, Nicole I, ABBINK, Truus E. M, WAISFISZ, Quinten, HEUTINK, Peter, DER KNAAP, Marjo S. Van, SALOMONS, Gajja S, FEIGENBAUM, Annette, BLASER, Susan, PRASAD, Chitra, HÄBERLE, Johannes, BARIC, Ivo, BAKKER, Ingrid M. C, POSTMA, Nienke L
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Journal Article
Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle
Dubey, Mohit, Bugiani, Marianna, Ridder, Margreet C., Postma, Nienke L., Brouwers, Eelke, Polder, Emiel, Jacobs, J. Gerbren, Baayen, Johannes C., Klooster, Jan, Kamermans, Maarten, Aardse, Romy, de Kock, Christiaan P. J., Dekker, Marien P., van Weering, Jan R. T., Heine, Vivi M., Abbink, Truus E. M., Scheper, Gert C., Boor, Ilja, Lodder, Johannes C., Mansvelder, Huibert D., van der Knaap, Marjo S.
Published in Annals of neurology (01.01.2015)
Published in Annals of neurology (01.01.2015)
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Journal Article
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation
Ridder, Margreet C., Boor, Ilja, Lodder, Johannes C., Postma, Nienke L., Capdevila-Nortes, Xavier, Duarri, Anna, Brussaard, Arjen B., Estévez, Raúl, Scheper, Gert C., Mansvelder, Huibert D., van der Knaap, Marjo S.
Published in Brain (London, England : 1878) (01.11.2011)
Published in Brain (London, England : 1878) (01.11.2011)
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Journal Article
Dosage of amyloid precursor protein affects axonal contact guidance in Down syndrome
Sosa, Lucas J, Postma, Nienke L, Estrada-Bernal, Adriana, Hanna, M, Guo, R, Busciglio, Jorge, Pfenninger, Karl H
Published in The FASEB journal (01.01.2014)
Published in The FASEB journal (01.01.2014)
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Journal Article
Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model
Bugiani, Marianna, Dubey, Mohit, Breur, Marjolein, Postma, Nienke L., Dekker, Marien P., Braak, Timo, Boschert, Ursula, Abbink, Truus E. M., Mansvelder, Huibert D., Min, Rogier, Weering, Jan R. T., Knaap, Marjo S.
Published in Annals of clinical and translational neurology (01.07.2017)
Published in Annals of clinical and translational neurology (01.07.2017)
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Journal Article
Integrated Stress Response Deregulation underlies Vanishing White Matter and is a target for therapy
Abbink, Truus Em, Wisse, Lisanne E, Jaku, Ermelinda, Thiecke, Michiel J, Voltolini-Gonzalez, Daniel, Hein Fritsen, Sander Bobeldijk, Ter Braak, Timo J, Polder, Emiel, Postma, Nienke L, Bugiani, Marianna, Struys, Eduard A, Verheijen, Mark, Straat, Nina, Van Der Sluis, Sophie, Adri Am Thomas, Molenaar, Douwe, Marjo S Van Der Knaap
Published in bioRxiv (04.12.2018)
Published in bioRxiv (04.12.2018)
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