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
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
Bugiani, Marianna, Kevelam, Sietske H, Bakels, Hannah S, Waisfisz, Quinten, Ceuterick-de Groote, Chantal, Niessen, Hans W M, Abbink, Truus E M, Lesnik Oberstein, Saskia A M J, van der Knaap, Marjo S
Published in Neurology (25.10.2016)
Published in Neurology (25.10.2016)
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Journal Article
DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder
Wolf, Nicole I, Toro, Camilo, Kister, Ilya, Latif, Kartikasalwah Abd, Leventer, Richard, Pizzino, Amy, Simons, Cas, Abbink, Truus E M, Taft, Ryan J, van der Knaap, Marjo S, Vanderver, Adeline
Published in Neurology (20.01.2015)
Published in Neurology (20.01.2015)
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Journal Article
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F.M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J.W., Bevova, Marianna R., Abbink, Truus E.M., van der Knaap, Marjo S., Wolf, Nicole I.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Journal Article
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
Hamilton, Eline M C, Bertini, Enrico, Kalaydjieva, Luba, Morar, Bharti, Dojčáková, Dana, Liu, Judy, Vanderver, Adeline, Curiel, Julian, Persoon, Claudia M, Diodato, Daria, Pinelli, Lorenzo, van der Meij, Nathalie L, Plecko, Barbara, Blaser, Susan, Wolf, Nicole I, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S
Published in Neurology (24.10.2017)
Published in Neurology (24.10.2017)
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Journal Article
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
Melchionda, Laura, Haack, Tobias B., Hardy, Steven, Abbink, Truus E.M., Fernandez-Vizarra, Erika, Lamantea, Eleonora, Marchet, Silvia, Morandi, Lucia, Moggio, Maurizio, Carrozzo, Rosalba, Torraco, Alessandra, Diodato, Daria, Strom, Tim M., Meitinger, Thomas, Tekturk, Pinar, Yapici, Zuhal, Al-Murshedi, Fathiya, Stevens, René, Rodenburg, Richard J., Lamperti, Costanza, Ardissone, Anna, Moroni, Isabella, Uziel, Graziella, Prokisch, Holger, Taylor, Robert W., Bertini, Enrico, van der Knaap, Marjo S., Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
Identification of 3 Novel Patients with CLCN2-Related Leukoencephalopathy due to CLCN2 Mutations
Zeydan, Burcu, Uygunoglu, Ugur, Altintas, Ayse, Saip, Sabahattin, Siva, Aksel, Abbink, Truus E M, van der Knaap, Marjo S, Yalcinkaya, Cengiz
Published in European neurology (01.01.2017)
Published in European neurology (01.01.2017)
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Journal Article
ISR mRNAs as potential blood biomarkers in patients with vanishing white matter
Oudejans, Ellen, Rooijen-van Leeuwen, Gemma van, Takanohashi, Asako, van der Sluis, Sophie, Abbink, Truus E.M., Vanderver, Adeline L., van der Knaap, Marjo S.
Published in Brain disorders (01.12.2023)
Published in Brain disorders (01.12.2023)
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Journal Article
Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation
Hanagasi, Hasmet A, Bilgiç, Başar, Abbink, Truus E.M., PhD, Hanagasi, Figen, M.D, Tüfekçioğlu, Zeynep, M.D, Gürvit, Hakan, Başak, Nazlı, van der Knaap, Marjo S, Emre, Murat
Published in Parkinsonism & related disorders (01.05.2015)
Published in Parkinsonism & related disorders (01.05.2015)
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Journal Article
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
Slynko, Inna, Nguyen, Stephanie, Hamilton, Eline M. C., Wisse, Lisanne E., Esch, Iwan J. P., Graaf, Chris, Bruning, John B., Proud, Christopher G., Abbink, Truus E. M., Knaap, Marjo S.
Published in Molecular genetics & genomic medicine (01.03.2021)
Published in Molecular genetics & genomic medicine (01.03.2021)
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Journal Article
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
Bugiani, Marianna, Abbink, Truus E. M., Edridge, Arthur W. D., Hoek, Lia, Hillen, Anne E. J., Til, Niek P., Hu‐A‐Ng, Gino V., Breur, Marjolein, Aiach, Karen, Drevot, Philippe, Hocquemiller, Michaël, Laufer, Ralph, Wijburg, Frits A., Knaap, Marjo S.
Published in Annals of clinical and translational neurology (01.06.2023)
Published in Annals of clinical and translational neurology (01.06.2023)
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Journal Article
Circularization of the HIV-1 RNA genome
Ooms, Marcel, Abbink, Truus E.M, Pham, Chi, Berkhout, Ben
Published in Nucleic acids research (01.08.2007)
Published in Nucleic acids research (01.08.2007)
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Journal Article
Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts
Kariminejad, Ariana, Rajaee, Ahmad, Ashrafi, Mahmoud Reza, Alizadeh, Houman, Tonekaboni, Seyed Hasan, Malamiri, Reza Azizi, Ghofrani, Mohamad, Karimzadeh, Parvaneh, Mohammadi, Mohsen Molla, Baghalshooshtari, Ali, Bozorgmehr, Bita, Kariminejad, Mohamad Hasan, Postma, N, Abbink, Truus E.M, van der Knaap, Marjo S
Published in European journal of medical genetics (01.02.2015)
Published in European journal of medical genetics (01.02.2015)
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Journal Article
An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts
Kocaman, Gulsen, Eryigit, Gozde, Abbink, Truus E.M, Kılıcarslan, Rukiye, Asil, Talip, Alkan, Alpay, Van der Knaap, Marjo S, Kocer, Abdulkadir
Published in Clinical neurology and neurosurgery (01.08.2013)
Published in Clinical neurology and neurosurgery (01.08.2013)
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Journal Article
Silencing of a Gene Encoding a Protein Component of the Oxygen-Evolving Complex of Photosystem II Enhances Virus Replication in Plants
Abbink, Truus E.M., Peart, Jack R., Mos, Thera N.M., Baulcombe, David C., Bol, John F., Linthorst, Huub J.M.
Published in Virology (New York, N.Y.) (10.04.2002)
Published in Virology (New York, N.Y.) (10.04.2002)
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Journal Article
Novel (ovario) leukodystrophy related to AARS2 mutations
Dallabona, Cristina, Diodato, Daria, Kevelam, Sietske H, Haack, Tobias B, Wong, Lee-Jun, Salomons, Gajja S, Baruffini, Enrico, Melchionda, Laura, Mariotti, Caterina, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Chapman, Kim, Colley, Alison, Rocha, Helena, Ounap, Katrin, Schiffmann, Raphael, Salsano, Ettore, Savoiardo, Mario, Hamilton, Eline M, Abbink, Truus E M, Wolf, Nicole I, Ferrero, Ileana, Lamperti, Costanza, Zeviani, Massimo, Vanderver, Adeline, Ghezzi, Daniele, van der Knaap, Marjo S
Published in Neurology (10.06.2014)
Published in Neurology (10.06.2014)
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Journal Article
Vanishing white matter
van der Knaap, Marjo S., Bugiani, Marianna, Abbink, Truus E.M.
Published in Handbook of Clinical Neurology (2024)
Published in Handbook of Clinical Neurology (2024)
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Book Chapter
Journal Article