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dr. G.E.M. Abbink

dr.

20122018
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Research Output 2012 2018

  • 20 Article
  • 2 PhD Thesis - Research VU, graduation VU
  • 1 Chapter
2018

Towards the molecular mechanism of vanishing white matter

Wisse, L. E., 2018, 214 p.

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File
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, J. G., Vuong, C., Klooster, J., Kamermans, M., Wortel, J., Loos, M., Wisse, L. E., Scheper, G. C., Abbink, G. E. M., Heine, V. M. & Knaap, M., 2016, In : Journal of Clinical Investigation. 126, p. 1512-1524 4.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
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

Open Access

CLCN2-Related Leukoencephalopathy

Knaap, M., Depienne, C., Sedel, F. & Abbink, T. E. M., 2015, GeneReviews® [internet]. Pagon, R. A., Adam, M. P. & Ardinger, H. H. (eds.). Seattle (WA): University of Washington

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

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

Leukoencephalopathies
Steroids
Spinal Cord
Paraplegia
Mutation

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

Mutation
Megalencephaly
Seizures
Magnetic Resonance Imaging
Inbreeding

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

Open Access
Endosomal Sorting Complexes Required for Transport
HIV-1
Viruses
Virion
HIV

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

Open Access
RNA Helicases
Virus Replication
Small Interfering RNA
HIV-1
Viral Drug Resistance

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

Leukoencephalopathies
Cysts
Astrocytes
Edema
Brain

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

Brain Diseases
Mutation
Magnetic Resonance Imaging
Exome
Genes

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

Vanishing white matter: A study of phenotypic variation and the relationship between genotype and phenotype

van der Lei, H. D. W., 2015

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File
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

Dimerization
Virus Replication
Viruses
Dimers
HIV-1

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

Genetic Association Studies
Basal Ganglia
Cerebellum
Atrophy
Phenotype

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

Aspartate-tRNA Ligase
Mutation
Therapeutics
Genetic Association Studies
Phenotype

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

Open Access
Cytochrome-c Oxidase Deficiency
Leukoencephalopathies
Mitochondria
Mitochondrial Diseases
Oxidoreductases

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

Mutation
Leukoencephalopathies
Phenotype
Cardiomyopathies
Alanine-tRNA Ligase
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

Observational Studies
Edema
Leukoencephalopathies
Brain
Homeostasis

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

Exome
Brain Diseases
Magnetic Resonance Imaging
Atrophy
Brain

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

Open Access
Leukoencephalopathies
Brain Stem
Leg
Spinal Cord
Mutation

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

Mutation
Exome
Fibroblasts
Sulfur
Iron
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

Leukoencephalopathies
Thalamus
Brain Stem
Lactic Acid
Magnetic Resonance Imaging