Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Stephany C. Koelewijn"'
Autor:
Sander Nieuwenhuis, Peter R. Murphy, Stephen B. R. E. Brown, Marieke Jepma, Stephany C. Koelewijn, Arn M. J. M. van den Maagdenberg, Boukje de Vries
Publikováno v:
Journal of Cognitive Neuroscience
Journal of Cognitive Neuroscience, 30(12), 1803-1820. MIT Press Journals
Journal of Cognitive Neuroscience, 30(12), 1803-1820. MIT Press Journals
To make optimal predictions in a dynamic environment, the impact of new observations on existing beliefs—that is, the learning rate—should be guided by ongoing estimates of change and uncertainty. Theoretical work has proposed specific computatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969d98e5fca61cefc8f069a3e74d2b82
https://dare.uva.nl/personal/pure/en/publications/noradrenergic-and-cholinergic-modulation-of-belief-updating(d46c9fe6-1772-4ea7-aeec-d5b21ff7899d).html
https://dare.uva.nl/personal/pure/en/publications/noradrenergic-and-cholinergic-modulation-of-belief-updating(d46c9fe6-1772-4ea7-aeec-d5b21ff7899d).html
Autor:
Gijs W. E. Santen, Marina A. J. Tijssen, Stephany C. Koelewijn, Arn M. J. M. van den Maagdenberg, Boukje de Vries, A. W. G. Buijink, L. S. Vijfhuizen, Alexander J. Groffen, Anne Fleur van Rootselaar, Petra M.C. Callenbach
Publikováno v:
Neurology, 89(23), 2341-2350
Neurology, 89(23), 2341-2350. Lippincott Williams and Wilkins
Van Rootselaar, A F, Groffen, A J, Vries, B D, Callenbach, P M C, Santen, G W E, Koelewijn, S, Vijfhuizen, L S, Buijink, A, Tijssen, M A J & Van Den Maagdenberg, A M J M 2017, ' δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy ', Neurology, vol. 89, no. 23, pp. 2341-2350 . https://doi.org/10.1212/WNL.0000000000004709
van Rootselaar, A-F, Groffen, A J, de Vries, B, Callenbach, P M C, Santen, G W E, Koelewijn, S, Vijfhuizen, L S, Buijink, A, Tijssen, M A J & van den Maagdenberg, A M J M 2017, ' δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy ', Neurology, vol. 89, no. 23, pp. 2341-2350 . https://doi.org/10.1212/WNL.0000000000004709
Neurology, 89(23), 2341-2350. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 89(23), 2341-2350. American Academy of Neurology
Neurology, 89(23), 2341-2350. Lippincott Williams and Wilkins
Van Rootselaar, A F, Groffen, A J, Vries, B D, Callenbach, P M C, Santen, G W E, Koelewijn, S, Vijfhuizen, L S, Buijink, A, Tijssen, M A J & Van Den Maagdenberg, A M J M 2017, ' δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy ', Neurology, vol. 89, no. 23, pp. 2341-2350 . https://doi.org/10.1212/WNL.0000000000004709
van Rootselaar, A-F, Groffen, A J, de Vries, B, Callenbach, P M C, Santen, G W E, Koelewijn, S, Vijfhuizen, L S, Buijink, A, Tijssen, M A J & van den Maagdenberg, A M J M 2017, ' δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy ', Neurology, vol. 89, no. 23, pp. 2341-2350 . https://doi.org/10.1212/WNL.0000000000004709
Neurology, 89(23), 2341-2350. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 89(23), 2341-2350. American Academy of Neurology
Objective: To identify the causative gene in a large Dutch family with familial cortical myoclonic tremor and epilepsy (FCMTE).Methods: We performed exome sequencing for 3 patients of our FCMTE family. Next, we performed knock-down (shRNA) and rescue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10792db4afbd9376721a247850ebe382
https://hdl.handle.net/1887/94669
https://hdl.handle.net/1887/94669
Autor:
Nadine Pelzer, Boukje de Vries, Joost Haan, Amber Smagge, Michel D. Ferrari, Anine H. Stam, Gisela M. Terwindt, Stephany C. Koelewijn, Arn M. J. M. van den Maagdenberg, L. S. Vijfhuizen
Publikováno v:
Neurology. 90(7)
ObjectiveTo investigate whether the clinical characteristics of patients with hemiplegic migraine with and without autosomal dominant mutations in CACNA1A, ATP1A2, or SCN1A differ, and whether the disease may be caused by mutations in other genes.Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4f6959e638cb3a512464fee35227b15
https://pubmed.ncbi.nlm.nih.gov/29343472
https://pubmed.ncbi.nlm.nih.gov/29343472
Autor:
Nadine Pelzer, Claudia M Weller, Joost Haan, María A Ramos Arroyo, Boukje de Vries, Gisela M. Terwindt, Michel D. Ferrari, Mercè Artigas López, Stephany C. Koelewijn, Arn M. J. M. van den Maagdenberg, AH Stam, Oriol De Fabregues, Julio Pascual
Publikováno v:
Cephalalgia. 34:1062-1069
Background Familial hemiplegic migraine (FHM) is a rare monogenic subtype of migraine with aura, characterized by motor auras. The majority of FHM families have mutations in the CACNA1A and ATP1A2 genes; less than 5% of FHM families are explained by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::798427a2582eda4e2089a9b14015ac28
https://doi.org/10.1177/0333102414529195
https://doi.org/10.1177/0333102414529195
Autor:
Arn M. J. M. van den Maagdenberg, Boukje de Vries, Stephany C. Koelewijn, Boyan Todorov, Peter A C 't Hoen, Else Eising, Rune R. Frants, Ludo A. M. Broos, Judith M. Boer, Michel D. Ferrari
Publikováno v:
Cephalalgia
Cephalalgia, 34(3), 174-182
Cephalalgia, 34(3), 174-182
Background Various CACNA1A missense mutations cause familial hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of migraine with aura. FHM1 mutation R192Q is associated with pure hemiplegic migraine, whereas the S218L mutation causes hemiple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97cb06a83ccdcd9a2af328509da13eae
https://doi.org/10.1177/0333102413502736
https://doi.org/10.1177/0333102413502736
Autor:
Gisela M. Terwindt, Arn M. J. M. van den Maagdenberg, Claudia M Weller, L. S. Vijfhuizen, Jeanine J. Houwing-Duistermaat, Stephany C. Koelewijn, Joost Haan, Michel D. Ferrari, Leopoldine A Wilbrink, Boukje de Vries
Publikováno v:
Cephalalgia, 35(9), 741-747
Background Cluster headache is a severe neurological disorder with a complex genetic background. A missense single nucleotide polymorphism (rs2653349; p.Ile308Val) in the HCRTR2 gene that encodes the hypocretin receptor 2 is the only genetic factor t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411801647458d81cf478d68c49f086f1
https://pubmed.ncbi.nlm.nih.gov/25398231
https://pubmed.ncbi.nlm.nih.gov/25398231
Autor:
Monique M.B. Breteler, Cornelia M. van Duijn, André G. Uitterlinden, Yurii S. Aulchenko, Arn M. J. M. van den Maagdenberg, M. Arfan Ikram, V. Mathijs Kattenberg, Eco J. C. de Geus, Johannes H. Smit, Gonneke Willemsen, Grant W. Montgomery, Lenore J. Launer, Vilmundur Gudnason, Lannie Ligthart, Najaf Amin, Dale R. Nyholt, Gisela M. Terwindt, Ben A. Oostra, Michel D. Ferrari, Stephany C. Koelewijn, Brenda W.J.H. Penninx, Marleen H. M. de Moor, Jouke-Jan Hottenga, Boukje de Vries, Albert Hofman, Frans G. Zitman, A. Cecile J.W. Janssens, Albert V. Smith, Dorret I. Boomsma
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 19(8), 901-907. Nature Publishing Group
Ligthart, L, de Vries, B, Smith, A V, Ikram, M A, Amin, N, Hottenga, J-J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A C J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, D R, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-7 . https://doi.org/10.1038/ejhg.2011.48
European Journal of Human Genetics; Vol 19
European Journal of Human Genetics, 19(8), 901-907
Ligthart, L, de Vries, B, Smith, A V, Arfan Ikram, M, Amin, N, Hottenga, J J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, DR, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-907 . https://doi.org/10.1038/ejhg.2011.48
Ligthart, R S L, de Vries, B, Smith, A V, Arfan Ikram, M, Amin, N, Hottenga, J J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, DR, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-907 . https://doi.org/10.1038/ejhg.2011.48
European Journal of Human Genetics, 19(8), 901-907. Nature Publishing Group
Ligthart, L, de Vries, B, Smith, A V, Ikram, M A, Amin, N, Hottenga, J-J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A C J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, D R, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-7 . https://doi.org/10.1038/ejhg.2011.48
European Journal of Human Genetics; Vol 19
European Journal of Human Genetics, 19(8), 901-907
Ligthart, L, de Vries, B, Smith, A V, Arfan Ikram, M, Amin, N, Hottenga, J J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, DR, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-907 . https://doi.org/10.1038/ejhg.2011.48
Ligthart, R S L, de Vries, B, Smith, A V, Arfan Ikram, M, Amin, N, Hottenga, J J, Koelewijn, S C, Kattenberg, V M, de Moor, M H M, Janssens, A J W, Aulchenko, Y S, Oostra, B A, de Geus, E J C, Smit, J H, Zitman, F G, Uitterlinden, A G, Hofman, A, Willemsen, G, Nyholt, DR, Montgomery, G W, Terwindt, G M, Gudnason, V, Penninx, B W J H, Breteler, M, Ferrari, M D, Launer, L J, van Duijn, C M, van den Maagdenberg, A M J M & Boomsma, D I 2011, ' Meta-analysis of genome-wide association for migraine in six population-based European cohorts ', European Journal of Human Genetics, vol. 19, no. 8, pp. 901-907 . https://doi.org/10.1038/ejhg.2011.48
Migraine is a common neurological disorder with a genetically complex background. This paper describes a meta-analysis of genome-wide association (GWA) studies on migraine, performed by the Dutch-Icelandic migraine genetics (DICE) consortium, which b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e40ba6126996a189c8a791ab3a8a8657
Autor:
A. De Groot, Lewis John Alfred, Stephany C. Koelewijn, Gerrit Jan Weverling, E. Kerkvliet, Menzo J. E. Havenga, Johannes A. Bogaards, Ronald Vogels, Jaap Goudsmit, Maria Grazia Pau, J.Y. Guichoux, Linda Gijsbers, Jerome Custers, Giuseppe Marzio
Publikováno v:
Vaccine, 25(12), 2228-2237. Elsevier BV
Marzio, G, Kerkvliet, E, Bogaards, J A, Koelewijn, S, De Groot, A, Gijsbers, L, Weverling, G J, Vogels, R, Havenga, M, Custers, J, Pau, M G, Guichoux, J Y, Lewis, J & Goudsmit, J 2007, ' A replication-competent adenovirus assay for E1-deleted Ad35 vectors produced in PER.C6 cells ', Vaccine, vol. 25, no. 12, pp. 2228-2237 . https://doi.org/10.1016/j.vaccine.2006.12.011
Marzio, G, Kerkvliet, E, Bogaards, J A, Koelewijn, S, De Groot, A, Gijsbers, L, Weverling, G J, Vogels, R, Havenga, M, Custers, J, Pau, M G, Guichoux, J Y, Lewis, J & Goudsmit, J 2007, ' A replication-competent adenovirus assay for E1-deleted Ad35 vectors produced in PER.C6 cells ', Vaccine, vol. 25, no. 12, pp. 2228-2237 . https://doi.org/10.1016/j.vaccine.2006.12.011
The presence of replication-competent adenovirus (RCA) is a safety concern for biologics based on recombinant adenoviruses and RCA testing is therefore mandatory for release of clinical material. RCA, which arises from homologous recombination betwee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129f681e3f2f4b70eb53167af240f07a
https://pure.amc.nl/en/publications/a-replicationcompetent-adenovirus-assay-for-e1deleted-ad35-vectors-produced-in-perc6-cells(27e0a348-55be-4cdf-9cdd-b110c60dc912).html
https://pure.amc.nl/en/publications/a-replicationcompetent-adenovirus-assay-for-e1deleted-ad35-vectors-produced-in-perc6-cells(27e0a348-55be-4cdf-9cdd-b110c60dc912).html
Autor:
Boukje de Vries, Arn M. J. M. van den Maagdenberg, Petra M.C. Callenbach, Jessica T. Kamphorst, Robert ten Houten, Irenaeus F.M. de Coo, Stephany C. Koelewijn, Claudia M Weller, Oebo F. Brouwer
Publikováno v:
Neurology, 79(21), 2154-2155. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 79(21), 2154-2155
Neurology, 79(21), 2154-2155. Lippincott Williams & Wilkins
Neurology, 79(21), 2154-2155
Neurology, 79(21), 2154-2155. Lippincott Williams & Wilkins
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited epilepsy syndrome with onset between 3 and 12 months of age. It is characterized by brief seizures with motor arrest, cyanosis, hypertonia, and limb jerks. Seizures res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc26476658a4f6467569547cf8dac4bc
https://doi.org/10.1212/wnl.0b013e3182752c30
https://doi.org/10.1212/wnl.0b013e3182752c30
Autor:
Ferrari, Joost Haan, Gisela M. Terwindt, Anine H. Stam, Claudia M Weller, B. B. A. de Vries, O De Fàbregues, Amj van den Maagdenberg, Stephany C. Koelewijn
Publikováno v:
The Journal of Headache and Pain
Familial hemiplegic migraine (FHM) is a monogenic subtype of migraine with aura. So far three FHM genes are identified; the CACNA1A gene, the ATP1A2 gene and the SCN1A gene.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d385d081dd629f926422e8143da70b