Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Emiel Polder"'
Autor:
Truus E. M. Abbink, Lisanne E. Wisse, Ermelinda Jaku, Michiel J. Thiecke, Daniel Voltolini‐González, Hein Fritsen, Sander Bobeldijk, Timo J. terBraak, Emiel Polder, Nienke L. Postma, Marianna Bugiani, Eduard A. Struijs, Mark Verheijen, Nina Straat, Sophie van derSluis, Adri A. M. Thomas, Douwe Molenaar, Marjo S. van derKnaap
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1407-1422 (2019)
Abstract Objective Vanishing white matter (VWM) is a fatal, stress‐sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is cru
Externí odkaz:
https://doaj.org/article/bc70e13747d84b12b5b25ba59f4dcbfe
Autor:
Lisanne E. Wisse, Renske Penning, Esther A. Zaal, Carola G. M. van Berkel, Timo J. ter Braak, Emiel Polder, Justin W. Kenney, Christopher G. Proud, Celia R. Berkers, Maarten A. F. Altelaar, Dave Speijer, Marjo S. van der Knaap, Truus E. M. Abbink
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
Vanishing white matter (VWM) is a leukodystrophy with predominantly early-childhood onset. Affected children display various neurological signs, including ataxia and spasticity, and die early. VWM patients have bi-allelic mutations in any of the five
Externí odkaz:
https://doaj.org/article/a9b90c5610104ba2a6d226daf4f5408c
Autor:
Sander Bobeldijk, Mark H. G. Verheijen, Adri A. M. Thomas, Douwe Molenaar, Eduard A. Struijs, Marianna Bugiani, Timo J. ter Braak, Nienke L. Postma, Truus Em Abbink, Lisanne E. Wisse, Daniel Voltolini-González, Emiel Polder, Sophie van der Sluis, Michiel J. Thiecke, Ermelinda Jaku, Marjo S. van der Knaap, Hein Fritsen, Nina Straat
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 8, Pp 1407-1422 (2019)
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, ' Vanishing white matter: deregulated integrated stress response as therapy target ', Annals of Clinical and Translational Neurology, vol. 6, no. 8, pp. 1407-1422 . https://doi.org/10.1002/acn3.50826
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, ' Vanishing white matter : deregulated integrated stress response as therapy target ', Annals of Clinical and Translational Neurology, vol. 6, no. 8, pp. 1407-1422 . https://doi.org/10.1002/acn3.50826
Annals of Clinical and Translational Neurology, 6(8), 1407-1422. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
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, ' Vanishing white matter: deregulated integrated stress response as therapy target ', Annals of Clinical and Translational Neurology, vol. 6, no. 8, pp. 1407-1422 . https://doi.org/10.1002/acn3.50826
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, ' Vanishing white matter : deregulated integrated stress response as therapy target ', Annals of Clinical and Translational Neurology, vol. 6, no. 8, pp. 1407-1422 . https://doi.org/10.1002/acn3.50826
Annals of Clinical and Translational Neurology, 6(8), 1407-1422. John Wiley and Sons Ltd
Annals of Clinical and Translational Neurology
Objective: Vanishing white matter (VWM) is a fatal, stress-sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is crucial for i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc38ffb7fe3629e60ea3de02637fcbd1
https://doi.org/10.1002/acn3.50826
https://doi.org/10.1002/acn3.50826
Integrated Stress Response Deregulation underlies Vanishing White Matter and is a target for therapy
Autor:
Michiel J. Thiecke, Nina Straat, Eduard A. Struijs, Ermelinda Jaku, Sophie van der Sluis, Nienke L. Postma, Douwe Molenaar, Truus E.M. Abbink, Emiel Polder, Timo J. ter Braak, Lisanne E. Wisse, Hein Fritsen, Marianna Bugiani, Marjo S. van der Knaap, Adri A. M. Thomas, Daniel Voltolini-González, Sander Bobeldijk, Mark H. G. Verheijen
Vanishing white matter (VWM) is a fatal, stress-sensitive leukodystrophy that mainly affects children and is currently without treatment. VWM is caused by recessive mutations in eukaryotic initiation factor 2B (eIF2B) that is crucial for initiation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247f734a34582ebb188028f4ce1b07a0
https://doi.org/10.1101/460840
https://doi.org/10.1101/460840
Autor:
Margreet C. Ridder, Huibert D. Mansvelder, Marjo S. van der Knaap, Gert C. Scheper, Nienke L. Postma, Mohit Dubey, Johannes C. Baayen, Jan R.T. van Weering, Romy Aardse, J. Gerbren Jacobs, Johannes C. Lodder, Jan Klooster, Eelke Brouwers, Marien P. Dekker, Truus E.M. Abbink, Vivi M. Heine, Christiaan P. J. de Kock, Ilja Boor, Maarten Kamermans, Marianna Bugiani, Emiel Polder
Publikováno v:
Annals of Neurology. 77:114-131
Objective: Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neurological deterioration. Loss of MLC1 function causes MLC. MLC1 is involved in ion-water hom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d918869bde13dcdf03e1ff245862795a
https://doi.org/10.1002/ana.24307
https://doi.org/10.1002/ana.24307
Autor:
Eléonore Tollard, Christel Depienne, Carola G.M. van Berkel, Graziella Uziel, Céline Dupuits, Maarten Kamermans, Truus E.M. Abbink, Suzanna G.M. Frints, Nienke L. Postma, Alexis Brice, Adeline Vanderver, Christine E. M. de Die-Smulders, Emiel Polder, Marjo S. van der Knaap, Nicole I. Wolf, Frédéric Sedel, Marianna Bugiani, Damien Galanaud, J. S. H. Vles, Vera M. Kalscheuer, Valerie Touitou, Jan Klooster, Frédéric Darios, Cengiz Yalcinkaya
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
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, Abbink, G E M, Wolf, N I, Sedel, F & van der Knaap, M S 2013, ' Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ', Lancet Neurology, vol. 12, no. 7, pp. 659-668 . https://doi.org/10.1016/S1474-4422(13)70053-X
Lancet Neurology
Lancet Neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Lancet Neurology, 12(7), 659-668. Elsevier Science
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-668. ⟨10.1016/S1474-4422(13)70053-X⟩
The Lancet Neurology; Vol 12
Lancet Neurology, 12, 659-668. Lancet Publishing Group
Lancet neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
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, Abbink, G E M, Wolf, N I, Sedel, F & van der Knaap, M S 2013, ' Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ', Lancet Neurology, vol. 12, no. 7, pp. 659-668 . https://doi.org/10.1016/S1474-4422(13)70053-X
Lancet Neurology
Lancet Neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Lancet Neurology, 12(7), 659-668. Elsevier Science
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-668. ⟨10.1016/S1474-4422(13)70053-X⟩
The Lancet Neurology; Vol 12
Lancet Neurology, 12, 659-668. Lancet Publishing Group
Lancet neurology, 12(7), 659-668. Lancet Publishing Group
International audience; BACKGROUND: Mutant mouse models suggest that the chloride channel ClC-2 has functions in ion and water homoeostasis, but this has not been confirmed in human beings. We aimed to define novel disorders characterised by distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4620ddd982ef1059e8c44014ce925e72
https://doi.org/10.1016/S1474-4422(13)70053-X
https://doi.org/10.1016/S1474-4422(13)70053-X
Autor:
Catherine Florentz, Marie Sissler, Gert C. Scheper, Agnès Gaudry, Marjo S. van der Knaap, Laura van Berge, Josta T. Kevenaar, Emiel Polder
Publikováno v:
Biochemical Journal, 450, 345-350. Portland Press Ltd.
Biochemical Journal
Biochemical Journal, Portland Press, 2013, 450 (2), pp.345-350. ⟨10.1042/BJ20121564⟩
van Berge, L, Kevenaar, J, Polder, E, Gaudry, A, Florentz, C, Sissler, M, van der Knaap, M S & Scheper, G C 2013, ' Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways ', Biochemical Journal, vol. 450, pp. 345-350 . https://doi.org/10.1042/BJ20121564
Biochemical journal, 450(2), 345-350. Portland Press Ltd.
Biochemical Journal
Biochemical Journal, Portland Press, 2013, 450 (2), pp.345-350. ⟨10.1042/BJ20121564⟩
van Berge, L, Kevenaar, J, Polder, E, Gaudry, A, Florentz, C, Sissler, M, van der Knaap, M S & Scheper, G C 2013, ' Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways ', Biochemical Journal, vol. 450, pp. 345-350 . https://doi.org/10.1042/BJ20121564
Biochemical journal, 450(2), 345-350. Portland Press Ltd.
International audience; The autosomal recessive white matter disorder LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is caused by mutations in DARS2, coding for mtAspRS (mitochondrial aspartyl-tRNA synthe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bda7f48fc597a290f363fdfcfebc0761
https://doi.org/10.1042/bj20121564
https://doi.org/10.1042/bj20121564
Autor:
Stephanie Dooves, Carola G.M. van Berkel, Marjo S. van der Knaap, Laura van Berge, Emiel Polder, Gert C. Scheper
Publikováno v:
Biochemical Journal, 441, 955-962. Portland Press Ltd.
van Berge, L, Dooves, S, van Berkel, C G M, Polder, E, van der Knaap, M S & Scheper, G C 2012, ' Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA ', Biochemical Journal, vol. 441, pp. 955-962 . https://doi.org/10.1042/BJ20110795
Biochemical journal, 441(3), 955-962. Portland Press Ltd.
van Berge, L, Dooves, S, van Berkel, C G M, Polder, E, van der Knaap, M S & Scheper, G C 2012, ' Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is associated with cell-type-dependent splicing of mtAspRS mRNA ', Biochemical Journal, vol. 441, pp. 955-962 . https://doi.org/10.1042/BJ20110795
Biochemical journal, 441(3), 955-962. Portland Press Ltd.
LBSL (leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation) is an autosomal recessive white matter disorder with slowly progressive cerebellar ataxia, spasticity and dorsal column dysfunction. Magnetic resonance imagi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89cd201cda92cc8c7a62627587cd9b3b
https://research.vu.nl/en/publications/2e078f4c-01d1-4d44-8597-ffbffd26c0d8
https://research.vu.nl/en/publications/2e078f4c-01d1-4d44-8597-ffbffd26c0d8
Autor:
C.G.M. van Berkel, Tarja Linnankivi, Esther Hulleman, P.I. Andrews, Nicole I. Wolf, M. al Ghamdi, Ingeborg Krägeloh-Mann, Ba de Jong, Graziella Uziel, Gert C. Scheper, Bakhos A. Tannous, W.N. van Wieringen, T. Wurdinger, Emiel Polder, N.J. Brautaset, L van Berge, Truus E.M. Abbink, Marjan E. Steenweg, Pirjo Isohanni, Emc Hamilton, Eduard A. Struys, van der Knaap
Publikováno v:
Brain, 137. Oxford University Press
van Berge, L, Hamilton, EMC, Linnankivi, T, Uziel, G, Steenweg, M E, Isohanni, P, Wolf, NI, Krägeloh-Mann, I, Brautaset, N J, Andrews, P I, de Jong, BA, al Ghamdi, M, van Wieringen, W N, Tannous, B A, Hulleman, E, Würdinger, T, van Berkel, C G M, Polder, E, Abbink, TE, Struys, E A, Scheper, GC & van der Knaap, MS 2014, ' Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy ', Brain, vol. 137 .
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, Scheper, G C & van der Knaap, M S 2014, ' Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy ', Brain, vol. 137, pp. 1019-1029 . https://doi.org/10.1093/brain/awu026
Brain, 137, 1019-1029. Oxford University Press
van Berge, L, Hamilton, EMC, Linnankivi, T, Uziel, G, Steenweg, M E, Isohanni, P, Wolf, NI, Krägeloh-Mann, I, Brautaset, N J, Andrews, P I, de Jong, BA, al Ghamdi, M, van Wieringen, W N, Tannous, B A, Hulleman, E, Würdinger, T, van Berkel, C G M, Polder, E, Abbink, TE, Struys, E A, Scheper, GC & van der Knaap, MS 2014, ' Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy ', Brain, vol. 137 .
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, Scheper, G C & van der Knaap, M S 2014, ' Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy ', Brain, vol. 137, pp. 1019-1029 . https://doi.org/10.1093/brain/awu026
Brain, 137, 1019-1029. Oxford University Press
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ed4ea247891f0c62ea5c9691a45d8ba
https://research.vumc.nl/en/publications/9563731e-2fb5-468b-89ca-7d54fd1a9c0a
https://research.vumc.nl/en/publications/9563731e-2fb5-468b-89ca-7d54fd1a9c0a
Autor:
Marianna Bugiani, Nienke L. Postma, Marjo S. van der Knaap, Ilja Boor, Peter G. Scheffer, Emiel Polder, Fraser J. Sim, Nikki Dieleman
Publikováno v:
Bugiani, M, Postma, N L, Polder, E, Dieleman, N, Scheffer, P G, Sim, F J, van der Knaap, M S & Boor, P K I 2013, ' Hyaluronan accumulation and arrested oligodendrocyte progenitor maturation in vanishing white matter disease ', Brain, vol. 136, pp. 209-222 . https://doi.org/10.1093/brain/aws320
Brain, 136, 209-222. Oxford University Press
Brain, 136(1), 209-222. Oxford University Press
Brain, 136, 209-222. Oxford University Press
Brain, 136(1), 209-222. Oxford University Press
Vanishing white matter disease is a genetic leukoencephalopathy caused by mutations in eukaryotic translation initiation factor 2B. Patients experience a slowly progressive neurological deterioration with episodes of rapid clinical worsening triggere
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e58b91bce25ee156a8dcb9d512ec8cc
https://research.vumc.nl/en/publications/145b8151-d533-43ac-b5d2-1dadd44bca48
https://research.vumc.nl/en/publications/145b8151-d533-43ac-b5d2-1dadd44bca48