Truus Abbink

20122019
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Research Output 2012 2019

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Article
2019

Vanishing white matter: deregulated integrated stress response as therapy target

Abbink, T. E. M., Wisse, L. E., Jaku, E., Thiecke, M. J., Voltolini-González, D., Fritsen, H., Bobeldijk, S., ter Braak, T. J., Polder, E., Postma, N. L., Bugiani, M., Struijs, E. A., Verheijen, M., Straat, N., van der Sluis, S., Thomas, A. A. M., Molenaar, D. & van der Knaap, M. S., 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1407-1422

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

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

Wisse, L. E., ter Braak, T. J., van de Beek, M-C., van Berkel, C. G. M., Wortel, J., Heine, V. M., Proud, C. G., van der Knaap, M. S. & Abbink, T. E. M., 2018, In : Scientific Reports. 8, 1, 3773.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
Open Access
2017

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model

Bugiani, M., Dubey, M., Breur, M., Postma, N. L., Dekker, M. P., Ter Braak, T., Boschert, U., Abbink, T. E. M., Mansvelder, H. D., Min, R., van Weering, J. R. T. & van der Knaap, M. S., Jul 2017, In : Annals of Clinical and Translational Neurology. 4, 7, p. 450-465 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Proteomic and metabolomic analyses of vanishing white matter mouse astrocytes reveal deregulation of ER functions

Wisse, L. E., Penning, R., Zaal, E. A., van Berkel, C. G. M., ter Braak, T. J., Polder, E., Kenney, J. W., Proud, C. G., Berkers, C. R., Altelaar, M. A. F., Speijer, D., van der Knaap, M. S. & Abbink, T. E. M., 20 Dec 2017, In : Frontiers in Cellular Neuroscience. 11, 411.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Hamilton, E. M. C., Bertini, E., Kalaydjieva, L., Morar, B., Dojčáková, D., Liu, J., Vanderver, A., Curiel, J., Persoon, C. M., Diodato, D., Pinelli, L., Van Der Meij, N. L., Plecko, B., Blaser, S., Wolf, N. I., Waisfisz, Q., Abbink, T. E. M. & Van Der Knaap, M. S., 24 Oct 2017, In : Neurology. 89, 17, p. 1821-1828 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

Astrocytes are central in the pathomechanisms of vanishing white matter

Dooves, S., Bugiani, M., Postma, N. L., Polder, E., Land, N., Horan, S. T., van Deijk, A-L. F., van de Kreeke, A., Jacobs, G., Jacobs, G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, T. E. M., Heine, V. M. & van der Knaap, M. S., Apr 2016, In : Journal of Clinical Investigation. 126, 4, p. 1512-1524

Research output: Contribution to journalArticleAcademicpeer-review

Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Bugiani, M., Kevelam, S. H., Bakels, H. S., Waisfisz, Q., Ceuterick-de Groote, C., Niessen, H. W. M., Abbink, T. E. M., Oberstein, S. A. M. J. L. & van der Knaap, M. S., 25 Oct 2016, In : Neurology. 87, 17, p. 1777-1786 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Dallabona, C., Abbink, T. E. M., Carrozzo, R., Torraco, A., Legati, A., van Berkel, C. G. M., Niceta, M., Langella, T., Verrigni, D., Rizza, T., Diodato, D., Piemonte, F., Lamantea, E., Fang, M., Zhang, J., Martinelli, D., Bevivino, E., Dionisi-Vici, C., Vanderver, A., Philip, S. G. & 14 othersKurian, M. A., Verma, I. C., Bijarnia-Mahay, S., Jacinto, S., Furtado, F., Accorsi, P., Ardissone, A., Moroni, I., Ferrero, I., Tartaglia, M., Goffrini, P., Ghezzi, D., van der Knaap, M. S. & Bertini, E., 1 Mar 2016, In : Brain. 139, p. 782-794

Research output: Contribution to journalArticleAcademicpeer-review

2015

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Kevelam, S. H., Taube, J. R., van Spaendonk, R. M. L., Bertini, E., Sperle, K., Tarnopolsky, M., Tonduti, D., Valente, E. M., Travaglini, L., Sistermans, E. A., Bernard, G., Catsman-Berrevoets, C. E., van Karnebeek, C. D. M., Ostergaard, J. R., Friederich, R. L., Elsaid, M. F., Schieving, J. H., Tarailo-Graovac, M., Orcesi, S., Steenweg, M. E. & 6 othersvan Berkel, C. G. M., Waisfisz, Q., Abbink, G. E. M., Knaap, M., Hobson, G. M. & Wolf, N. I., 2015, In : Annals of Clinical and Translational Neurology. 2, 6, p. 648-661

Research output: Contribution to journalArticleAcademicpeer-review

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

Wolf, N. I., Toro, C., Kister, I., Abd Latif, K., Leventer, R., Pizzino, A., Simons, C., Abbink, G. E. M., Taft, R. J., van der Knaap, M. S. & Vanderver, A., 2015, In : Neurology. 84, 3, p. 226-230

Research output: Contribution to journalArticleAcademicpeer-review

Eight novel mutations in MLC1 from 18 Iranian patients with megalencephalic leukoencephalopathy with subcortical cysts

Kariminejad, A., Rajaee, A., Ashrafi, M. R., Alizadeh, H., Tonekaboni, S. H., Malamiri, R. A., Ghofrani, M., Karimzadeh, P., Mohammadi, M. M., Baghalshooshtari, A., Bozorgmehr, B., Kariminejad, M. H., Postma, N., Abbink, G. E. M. & van der Knaap, M. S., 2015, In : European Journal of Medical Genetics. 58, 2, p. 71-74

Research output: Contribution to journalArticleAcademicpeer-review

Evidence that the endosomal sorting complex required for transport-II (ESCRT-II) is required for efficient human immunodeficiency virus-1 (HIV-1) production

Meng, B., Ip, N. C., Prestwood, L. J., Abbink, G. E. M. & Lever, A. M. L., 2015, In : Retrovirology. 12, 72.

Research output: Contribution to journalArticleAcademicpeer-review

Identification of RNA helicases in human immunodeficiency virus 1 (HIV-1) replication - a targeted small interfering RNA library screen using pseudotyped and WT HIV-1

Williams, C. A., Abbink, G. E. M., Jeang, K. T. & Lever, A. M. L., 2015, In : Journal of General Virology. 96, Pt 6, p. 1484-1489

Research output: Contribution to journalArticleAcademicpeer-review

Mice with megalencephalic leukoencephalopathy with cysts: a developmental angle

Dubey, M., Bugiani, M., Ridder, M. C., Postma, N. L., Brouwers, E., Polder, E., Jacobs, J. G., Baaijen, J. C., Klooster, J., Kamermans, M., Aardse, R., de Kock, C. P. J., Dekker, M. P., van Weering, J. R. T., Heine, V. M., Abbink, T. E. M., Scheper, G. C., Boor, P. K. I., Lodder, J. C., Mansvelder, H. D. & 1 othersKnaap, M., 2015, In : Annals of Neurology. 77, 11, p. 114-131

Research output: Contribution to journalArticleAcademicpeer-review

Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

Kevelam, S. H., Bierau, J., Salvarinova, R., Agrawal, S., Honzik, T., Visser, D., Weiss, M. M., Salomons, G., Abbink, T. E. M., Waisfisz, Q. & van der Knaap, M. S., 2015, In : Annals of Neurology. 78, 4, p. 649-658

Research output: Contribution to journalArticleAcademicpeer-review

Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation

Hanagasi, H. A., Bilgic, B., Abbink, T. E. M., Hanagasi, F., Tufekcioglu, Z., Gurvit, H., Basak, N., van der Knaap, M. S. & Emre, M., 2015, In : Parkinsonism and Related Disorders. 21, 5, p. 544-546

Research output: Contribution to journalArticleAcademicpeer-review

2014

A Short Sequence Motif in the 5 ' Leader of the HIV-1 Genome Modulates Extended RNA Dimer Formation and Virus Replication

van Bel, N., Das, A. T., Cornelissen, M., Abbink, G. E. M. & Berkhout, B., 2014, In : Journal of Biological Chemistry. 289, 51, p. 35061-35074

Research output: Contribution to journalArticleAcademicpeer-review

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Hamilton, E. M. C., Polder, E., Vanderver, A., Naidu, S., Schiffmann, R., Fisher, K., Raguz, A. B., Blumkin, L., van Berkel, C. G. M., Waisfisz, Q., Simons, C., Taft, R. J., Abbink, G. E. M., Wolf, N. I. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1921-1930

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M. C., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wurdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 2 othersScheper, G. C. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1019-1029

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in APOPT1, Encoding a Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Melchionda, L., Haack, T. B., Hardy, S., Abbink, G. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C. & 9 othersArdissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., van der Knaap, M. S., Ghezzi, D. & Zeviani, M., 2014, In : American journal of human genetics. 95, 3, p. 315-325

Research output: Contribution to journalArticleAcademicpeer-review

Novel (ovario) leukodystrophy related to AARS2 mutations

Dallabona, C., Diodato, D., Kevelam, S. H., Haack, T. B., Wong, L. J., Salomons, G. S., Baruffini, E., Melchionda, L., Mariotti, C., Strom, T. M., Meitinger, T., Prokisch, H., Chapman, K., Colley, A., Rocha, H., Ounap, K., Schiffmann, R., Salsano, E., Savoiardo, M., Hamilton, E. M. C. & 8 othersAbbink, G. E. M., Wolf, N. I., Ferrero, I., Lamperti, C., Zeviani, M., Vanderver, A., Ghezzi, D. & van der Knaap, M. S., 2014, In : Neurology. 82, 23, p. 2063-2071

Research output: Contribution to journalArticleAcademicpeer-review

2013

An unusually mild presentation of megalencephalic leukoencephalopathy with subcortical cysts

Kocaman, G., Eryigit, G., Abbink, G. E. M., Kilicarslan, R., Asil, T., Alkan, A., van der Knaap, M. S. & Kocer, A., 2013, In : Clinical Neurology and Neurosurgery. 115, 8, p. 1564-1566

Research output: Contribution to journalArticleAcademicpeer-review

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, C., Bugiani, M., Dupuits, C., Galanaud, D., Touitou, V., Postma, N. L., van Berkel, C. G. M., Polder, E., Tollard, E., Darios, F., Brice, A., de Die-Smulders, C. E., Vles, J. S., Vanderver, A., Uziel, G., Yalcinkaya, C., Frints, S. G., Kalscheuer, V. M., Klooster, J., Kamermans, M. & 4 othersAbbink, G. E. M., Wolf, N. I., Sedel, F. & van der Knaap, M. S., 2013, In : Lancet Neurology. 12, 7, p. 659-668

Research output: Contribution to journalArticleAcademicpeer-review

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Kevelam, S. H. G., Bugiani, M., Salomons, G. S., Feigenbaum, A., Blaser, S., Prasad, C., Haberle, J., Baric, I., Bakker, I. M. C., Postma, N. L., Kanhai, W. A., Wolf, N. I., Abbink, G. E. M., Waisfisz, Q., Heutink, P. & van der Knaap, M. S., 2013, In : Brain. 136, 5, p. 1534-1543

Research output: Contribution to journalArticleAcademicpeer-review

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Taft, R. J., Vanderver, A., Leventer, R. J., Damiani, S. A., Simons, C., Grimmond, S. M., Miller, D., Schmidt, J., Lockhart, P. J., Pope, K., Ru, K. L., Crawford, J., Rosser, T., de Coo, I. F. M., Juneja, M., Verma, I. C., Prabhakar, P., Blaser, S., Raiman, J., Pouwels, P. J. W. & 4 othersBevova, M. R., Abbink, G. E. M., van der Knaap, M. S. & Wolf, N. I., 2013, In : American journal of human genetics. 92, 5, p. 774-780

Research output: Contribution to journalArticleAcademicpeer-review

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Kevelam, S. H. G., Rodenburg, R. J., Wolf, N. I., Ferreira, P., Lunsing, R. J., Nijtmans, L. G., Mitchell, A., Arroyo, H. A., Rating, D., Vanderver, A., van Berkel, C. G. M., Abbink, G. E. M., Heutink, P. & van der Knaap, M. S., 2013, In : Neurology. 80, 17, p. 1577-1583

Research output: Contribution to journalArticleAcademicpeer-review

2012

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Steenweg, M. E., Ghezzi, D., Haack, T., Abbink, G. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A., Diogo, L., Grillo, E., Naude, J. T. W., Strom, T. M., Bertini, E., Prokisch, H., van der Knaap, M. S. & Zeviani, M., 2012, In : Brain. 135, p. 1387-1394

Research output: Contribution to journalArticleAcademicpeer-review