Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kaate R. J. Vanmolkot"'
Autor:
Kaate R J Vanmolkot, Eelke H van den Boogerd, Rune R. Frants, Joost Haan, Anine H. Stam, Ashok Raman, Nin Bajaj, Michel D. Ferrari, Gisela M. Terwindt, Judith van Vark, Jeroen J. M. W. van den Heuvel, Boukje de Vries, Jan B. Koenderink, Arn M. J. M. van den Maagdenberg
Publikováno v:
European Journal of Human Genetics, 15, 884-8
European Journal of Human Genetics, 15, 8, pp. 884-8
European Journal of Human Genetics, 15, 8, pp. 884-8
Familial hemiplegic migraine (FHM) is a rare autosomal-dominant subtype of migraine with aura, associated with hemiparesis during the aura. Here we describe a unique FHM family in which two novel allelic missense mutations in the Na,K-ATPase gene ATP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6449f356a209f0c00ccabb2ffd15905
https://doi.org/10.1038/sj.ejhg.5201841
https://doi.org/10.1038/sj.ejhg.5201841
Autor:
Antoinette MaassenVanDenBrink, Kaate R J Vanmolkot, Rune R. Frants, Michel D. Ferrari, Suneet Mehrotra, Arn M. J. M. van den Maagdenberg
Publikováno v:
Headache, 47(5), 711-716. Wiley-Blackwell Publishing Ltd
Background.—The 5-HT1B/1D receptor agonist sumatriptan is highly effective in the treatment of migraine. However, some patients do not respond to sumatriptan or experience recurrence of the headache after initial relief. In addition, some patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d1e2db41f9a44cf8e865271f2b413e6
https://doi.org/10.1111/j.1526-4610.2007.00792.x
https://doi.org/10.1111/j.1526-4610.2007.00792.x
Autor:
Todd A. Hardy, Anna Richards, M. Kathryn Liszewski, Martin B. Delatycki, Martin Dichgans, Boukje de Vries, Arn M. J. M. van den Maagdenberg, J. A. Oosterhuis, Joost Haan, Mark Gilbert Grand, Hafsa Mamsa, Andreas Gschwendter, Mary J. van Schooneveld, Gisela M. Terwindt, Ruth Schäfer, Michael J. Kane, Kaate R J Vanmolkot, Paulus T. V. M. de Jong, John P. Atkinson, Suzanne Hodgkinson, Dirk Spitzer, Stanley F. Nelson, Anine H. Stam, Maria Louise Barilla-Labarca, Katya E. Kotschet, Rune R. Frants, Paula Bertram, Yumi Kasai, Michel D. Ferrari, Parul H. Kothari, Robert W. Baloh, David J. Kavanagh, Joanna C. Jen, Jijun Wan, Caroline W. Storimans, Michael D. McLellan, Rula A. Hajj-Ali
Publikováno v:
Nature Genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Group
Nature genetics, 39(9), 1068-1070. Nature Publishing Group
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle- age onset. In nine families, we identified heterozygous C- terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7304e32bdf45a345c07f7ac2dcfc7395
https://doi.org/10.1038/ng2082
https://doi.org/10.1038/ng2082
Autor:
Bruce D. Howard, Elles M. J. Boon, Hafsa Mamsa, Stef L. M. Bakker, Rune R. Frants, Anine H. Stam, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Boukje de Vries, Robert W. Baloh, Gisela M. Terwindt, Kaate R J Vanmolkot, Joost Haan, Joanna C. Jen, Jijun Wan
Publikováno v:
Archives of Neurology, 66(1), 97-101. American Medical Association
De Vries, B, Mamsa, H, Stam, A H, Wan, J, Bakker, S L M, Vanmolkot, K R J, Haan, J, Terwindt, G M, Boon, E M J, Howard, B D, Frants, R R, Baloh, R W, Ferrari, M D, Jen, J C & Van Den Maagdenberg, A M J M 2009, ' Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake ', Archives of Neurology, vol. 66, no. 1, pp. 97-101 . https://doi.org/10.1001/archneurol.2008.535
De Vries, B, Mamsa, H, Stam, A H, Wan, J, Bakker, S L M, Vanmolkot, K R J, Haan, J, Terwindt, G M, Boon, E M J, Howard, B D, Frants, R R, Baloh, R W, Ferrari, M D, Jen, J C & Van Den Maagdenberg, A M J M 2009, ' Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake ', Archives of Neurology, vol. 66, no. 1, pp. 97-101 . https://doi.org/10.1001/archneurol.2008.535
Background Episodic ataxia (EA) is variably associated with additional neurologic symptoms. At least 4 genes have been implicated. Recently, a mutation in the SLC1A3 gene encoding the glutamate transporter EAAT1 was identified in a patient with sever
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6777acfe54999158d4dc26418bfdb536
https://research.vumc.nl/en/publications/b8b3148f-d9df-4e6c-b313-97f1a6175f99
https://research.vumc.nl/en/publications/b8b3148f-d9df-4e6c-b313-97f1a6175f99
Autor:
David Goudie, Judith van Vark, Bas C. Stunnenberg, Arn M. J. M. van den Maagdenberg, Vivek Jain, Jeroen J. M. W. van den Heuvel, Jan B. Koenderink, Martin Kirkpatrick, Kaate R J Vanmolkot, Rune R. Frants, Anine H. Stam, Boukje de Vries, Michel D. Ferrari, Joost Haan, Gisela M. Terwindt, Jay Shetty
Publikováno v:
Epilepsia, 50, 2503-4
Epilepsia, 50, 11, pp. 2503-4
Epilepsia, 50, 11, pp. 2503-4
Contains fulltext : 80724.pdf (Publisher’s version ) (Closed access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2e60ea841ac92dae7f9dd896dbbeb6
http://hdl.handle.net/2066/80724
http://hdl.handle.net/2066/80724
Autor:
Jan B. Koenderink, B. B. A. De Vries, J. J. M. W. van den Heuvel, A.M.J.M. van den Maagdenberg, T. Temudo, Kaate R. J. Vanmolkot, Carolina Lemos, José Pereira-Monteiro, João Paulo Pereira Barros, Maria-José Castro, B. Nunes, Rune R. Frants, Jorge Sequeiros
Publikováno v:
Clinical Genetics, 73, 37-43
Clinical Genetics, 73, 1, pp. 37-43
Clinical Genetics, 73, 1, pp. 37-43
Contains fulltext : 70562.pdf (Publisher’s version ) (Closed access) Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with familial hemiplegic migraine type 2. The majority of ATP1A2 mutations were repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f085897926d3de072302ffe9cfe291ad
https://doi.org/10.1111/j.1399-0004.2007.00918.x
https://doi.org/10.1111/j.1399-0004.2007.00918.x
Autor:
Kaate R J, Vanmolkot, Elena, Babini, Boukje, de Vries, Anine H, Stam, Tobias, Freilinger, Gisela M, Terwindt, Lisa, Norris, Joost, Haan, Rune R, Frants, Nabih M, Ramadan, Michel D, Ferrari, Michael, Pusch, Arn M J M, van den Maagdenberg, Martin, Dichgans
Publikováno v:
Human mutation. 28(5)
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946TA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::641cd2618b62890a568a95a3711773dc
https://pubmed.ncbi.nlm.nih.gov/17397047
https://pubmed.ncbi.nlm.nih.gov/17397047
Autor:
Carolina Lemos, Arn M. J. M. van den Maagdenberg, José Pereira-Monteiro, Jorge Sequeiros, José Barros, AH Stam, Michel D. Ferrari, Alexandre Mendes, Raquel Gil Gouveia, Jan B. Koenderink, Maria-José Castro, Rune R. Frants, Isabel Pavão Martins, Kaate R. J. Vanmolkot
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Human Genetics, 52, 990-8
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
Journal of Human Genetics, 52, 12, pp. 990-8
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Human Genetics, 52, 990-8
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
Journal of Human Genetics, 52, 12, pp. 990-8
© The Japan Society of Human Genetics and Springer 2007.
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical va
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1864e04237819d642728e5fee35f3f87
https://hdl.handle.net/10400.16/737
https://hdl.handle.net/10400.16/737
Autor:
Arn M. J. M. van den Maagdenberg, Jan B. Koenderink, Michel D. Ferrari, Virginia Barone, Kaate R J Vanmolkot, Ulku Turk, Giorgio Casari, Sima Kheradmand Kia, Dylsad Turkdogan, David F. Black, Joost Haan, E. E. Kors, Ludo A. M. Broos, Jeroen J. M. W. van den Heuvel, Antoine Keyser, Rune R. Frants
Publikováno v:
European Journal of Human Genetics, 14, 555-60
European Journal of Human Genetics, 14, 5, pp. 555-60
European Journal of Human Genetics, 14, 5, pp. 555-60
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5998c611f6b4064adb7cdf05dfce805b
Autor:
Sian D. Spacey, Robin G Y Hsiung, Kaate R J Vanmolkot, Arn M. J. M. van den Maagdenberg, Colleen Murphy
Publikováno v:
Headache. 45(9)
Background.—Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, which can result from mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. Typically, FHM presents with an aura of hemiplegia accompanied by a moderate-to-severe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd4d9533e19333cff97877905715d51
https://pubmed.ncbi.nlm.nih.gov/16178956
https://pubmed.ncbi.nlm.nih.gov/16178956