Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Frans L M G, Vermeulen"'
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:
Hans Speelman, Marina A. J. Tijssen, Fleur van Rootselaar, Petra M.C. Callenbach, Oebele F. Brouwer, Frans L. M. G. Vermeulen, Jouke J. Hottenga
Publikováno v:
Journal of Neurology. 249:829-834
To describe the clinical characteristics of a large Dutch family with cortical tremor with epilepsy (FCTE) and to test for genetic linkage of FCTE to chromosome 8q23.3–q24.1. FCTE is an idiopathic generalised epilepsy of adult onset with autosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4d2b220cbb900c26c0529e342ba1473
https://doi.org/10.1007/s00415-002-0729-x
https://doi.org/10.1007/s00415-002-0729-x
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
Autor:
Fleur, van Rootselaar, Petra M C, Callenbach, Jouke J, Hottenga, Frans L M G, Vermeulen, Hans D, Speelman, Oebele F, Brouwer, Marina A J, Tijssen
Publikováno v:
Journal of neurology. 249(7)
To describe the clinical characteristics of a large Dutch family with cortical tremor with epilepsy (FCTE) and to test for genetic linkage of FCTE to chromosome 8q23.3-q24.1.FCTE is an idiopathic generalised epilepsy of adult onset with autosomal dom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6858b849a2d948cc1fc881e1ebc4d7ad
https://pubmed.ncbi.nlm.nih.gov/12140665
https://pubmed.ncbi.nlm.nih.gov/12140665