Zobrazeno 1 - 10
of 24
pro vyhledávání: '"E E Kors"'
Autor:
L. H. Eunson, E. E. Kors, Paola Imbrici, Tracey D. Graves, Michael G. Hanna, Michel D. Ferrari, Peter J. Goadsby, Rune R. Frants, Joost Haan, Dimitri M. Kullmann, Arn M. J. M. van den Maagdenberg, Gisela M. Terwindt
Publikováno v:
Neurobiology of Disease, Vol 32, Iss 1, Pp 10-15 (2008)
Premature stop codons in CACNA1A, which encodes the alpha(1A) subunit of neuronal P/Q-type (Ca(V)2.1) Ca(2+) channels, cause episodic ataxia type 2 (EA2). CACNA1A undergoes extensive alternative splicing, which contributes to the pharmacological and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efbf4196fdde513958d272d3f1ca5c91
http://www.sciencedirect.com/science/article/pii/S0969996108001265
http://www.sciencedirect.com/science/article/pii/S0969996108001265
Autor:
Gisela M. Terwindt, Joost Haan, R.R. Frants, K R J Vanmolkot, A.M.J.M. van den Maagdenberg, S. Kheradmand Kia, E. E. Kors, P. T. V. M. De Jong, Michel D. Ferrari, Jouke J. Hottenga
Publikováno v:
Cephalalgia, 25(12), 1168-1172. SAGE Publications Ltd
Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three diso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5c0b0029cec2c59b652c0b138a32703
https://doi.org/10.1111/j.1468-2982.2005.00994.x
https://doi.org/10.1111/j.1468-2982.2005.00994.x
Autor:
Gisela M. Terwindt, K R J Vanmolkot, Rune R. Frants, Frans L. M. G. Vermeulen, Michel D. Ferrari, W. Van Paesschen, David Ravine, Joost Haan, A.M.J.M. van den Maagdenberg, S. Keeling, E.R. Brunt, E. E. Kors, Julio Pascual
Publikováno v:
Journal of Neurology. 249:1515-1519
We analysed the CACNA1A gene, located on chromosome 19p13, in three unrelated families and one sporadic case with episodic ataxia type 2 (EA-2). In two of the families and the sporadic patient, novel truncating mutations, which disrupt the reading fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f03c23dc3953bec158c0649f9572082
https://doi.org/10.1007/s00415-002-0860-8
https://doi.org/10.1007/s00415-002-0860-8
Autor:
Robin B. Fitzsimons, Peter Heywood, Arn M. J. M. van den Maagdenberg, Frans L. M. G. Vermeulen, Seth Love, E. E. Kors, Philip Jardine, Rune R. Frants, Michel D. Ferrari, Gisela M. Terwindt, Joost Haan
Publikováno v:
Annals of Neurology. 49:753-760
Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval ("delayed cerebral edema"). Attacks of familial hemiplegic migraine (FHM) can be triggered by minor head trauma and are s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48c9b36e1cafd7a5793ccfb848a8801
https://doi.org/10.1002/ana.1031
https://doi.org/10.1002/ana.1031
Publikováno v:
Current Opinion in Neurology. 12:249-254
Migraine has become an important topic in the field of complex genetic disorders. The identification of a gene on chromosome 19p encoding for an alpha 1A calcium channel subunit causing familial hemiplegic migraine has led to the classification of mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab1e14e96eab82059f754d1f37363689
https://doi.org/10.1097/00019052-199906000-00002
https://doi.org/10.1097/00019052-199906000-00002
Publikováno v:
Cephalalgia. 22:552-554
A family is described in which four members suffer from cycling vomiting syndrome (CVS), without additional symptoms. So far, only a few CVS families have been described in literature, and most patients belonging to these families had other symptoms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e28b3187b21f59da63ef162d25cf3f
https://doi.org/10.1046/j.1468-2982.2002.00420.x
https://doi.org/10.1046/j.1468-2982.2002.00420.x
Autor:
A H Stam, M D Ferrari, J. Haan, K R J Vanmolkot, H.B. Ginjaar, A.M.J.M. van den Maagdenberg, W. S. Frankhuizen, E E Kors, Rune R. Frants, E Leshinsky-Silver, R Gilad, G M Terwindt, H P H Kremer, Jutta Gärtner, J. Brown
Publikováno v:
Clinical Genetics, 74, 5, pp. 481-5
Clinical Genetics, 74, 481-5
Clinical Genetics, 74, 481-5
Contains fulltext : 70291.pdf (Publisher’s version ) (Closed access) Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65166defbaa02853de53f305d9c08e05
https://hdl.handle.net/2066/70291
https://hdl.handle.net/2066/70291
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:
Rune R. Frants, E. H. van den Boogerd, J. J. M. W. van den Heuvel, Jan B. Koenderink, A.M.J.M. van den Maagdenberg, Anine H. Stam, B. B. A. De Vries, H Stroink, E. E. Kors, Michel D. Ferrari, Joost Haan, K R J Vanmolkot, Gisela M. Terwindt
Publikováno v:
Annals of Neurology, 59, 310-4
Annals of Neurology, 59, 2, pp. 310-4
Annals of Neurology, 59, 2, pp. 310-4
Objective Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms. Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f770173220c6727847d556570df4bcf
http://hdl.handle.net/2066/49308
http://hdl.handle.net/2066/49308
Autor:
Kaate R J Vanmolkot, Arn M. J. M. van den Maagdenberg, Michel D. Ferrari, Joost Haan, Rune R. Frants, E. E. Kors
Publikováno v:
Current pain and headache reports. 9(3)
A growing interest in genetic research in migraine has resulted in the identification of several chromosomal regions that are involved in migraine. However, the identification of mutations in the genes for familial hemiplegic migraine (FHM) forms the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa858f63a88f1401ab097e2535f3632
https://pubmed.ncbi.nlm.nih.gov/15907261
https://pubmed.ncbi.nlm.nih.gov/15907261