G
Gisela M. Terwindt
Researcher at Leiden University
Publications - 95
Citations - 10639
Gisela M. Terwindt is an academic researcher from Leiden University. The author has contributed to research in topics: Migraine & Familial hemiplegic migraine. The author has an hindex of 40, co-authored 95 publications receiving 9502 citations. Previous affiliations of Gisela M. Terwindt include Leiden University Medical Center & Maastricht University Medical Centre.
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Journal ArticleDOI
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Roel A. Ophoff,Gisela M. Terwindt,Monique N. Vergouwe,Ronald van Eijk,Peter J. Oefner,Susan M.G. Hoffman,Jane Lamerdin,Harvey W. Mohrenweiser,Dennis E. Bulman,Maurizio Ferrari,Joost Haan,Dick Lindhout,Gert-Jan B. van Ommen,Marten H. Hofker,Michel D. Ferrari,Rune R. Frants +15 more
TL;DR: A brain-specific P/Q-type Ca2+ channel alpha1-subunit gene, CACNL1A4, covering 300 kb with 47 exons is characterized, revealing polymorphic variations, including a (CA)n-repeat (D19S1150), a (CAG) n-repeat in the 3'-UTR, and different types of deleterious mutations in FHM and EA-2.
Journal ArticleDOI
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine
Padhraig Gormley,Verneri Anttila,Verneri Anttila,Bendik S. Winsvold,Bendik S. Winsvold,Priit Palta,Tõnu Esko,Tõnu Esko,Tõnu Esko,Tune H. Pers,Kai-How Farh,Kai-How Farh,Kai-How Farh,Ester Cuenca-León,Mikko Muona,Nicholas A. Furlotte,Tobias Kurth,Tobias Kurth,Andres Ingason,George McMahon,Lannie Ligthart,Gisela M. Terwindt,Mikko Kallela,Tobias Freilinger,Tobias Freilinger,Caroline Ran,Scott G. Gordon,Anine H. Stam,Stacy Steinberg,Guntram Borck,Markku Koiranen,Lydia Quaye,Hieab H.H. Adams,Terho Lehtimäki,Antti-Pekka Sarin,Juho Wedenoja,David A. Hinds,Julie E. Buring,Julie E. Buring,Markus Schürks,Paul M. Ridker,Paul M. Ridker,Maria Gudlaug Hrafnsdottir,Hreinn Stefansson,Susan M. Ring,Jouke-Jan Hottenga,Brenda W.J.H. Penninx,Markus Färkkilä,Ville Artto,Mari A. Kaunisto,Salli Vepsäläinen,Rainer Malik,Andrew C. Heath,Pamela A. F. Madden,Nicholas G. Martin,Grant W. Montgomery,Mitja I. Kurki,Mart Kals,Reedik Mägi,Kalle Pärn,Eija Hamalainen,Hailiang Huang,Hailiang Huang,Andrea Byrnes,Andrea Byrnes,Lude Franke,Jie Huang,Evie Stergiakouli,Phil Lee,Phil Lee,Cynthia Sandor,Caleb Webber,Zameel M. Cader,Zameel M. Cader,Bertram Müller-Myhsok,Stefan Schreiber,Thomas Meitinger,Johan G. Eriksson,Johan G. Eriksson,Veikko Salomaa,Kauko Heikkilä,Elizabeth Loehrer,Elizabeth Loehrer,André G. Uitterlinden,Albert Hofman,Cornelia M. van Duijn,Lynn Cherkas,Linda M. Pedersen,Audun Stubhaug,Audun Stubhaug,Christopher Sivert Nielsen,Christopher Sivert Nielsen,Minna Männikkö,Evelin Mihailov,Lili Milani,Hartmut Göbel,Ann-Louise Esserlind,Anne Francke Christensen,Thomas Hansen,Thomas Werge,Thomas Werge,Thomas Werge,Jaakko Kaprio,Jaakko Kaprio,Arpo Aromaa,Olli T. Raitakari,Olli T. Raitakari,M. Arfan Ikram,Tim D. Spector,Marjo-Riitta Järvelin,Andres Metspalu,Christian Kubisch,David P. Strachan,Michel D. Ferrari,Andrea Carmine Belin,Martin Dichgans,Maija Wessman,Arn M. J. M. van den Maagdenberg,John-Anker Zwart,John-Anker Zwart,Dorret I. Boomsma,George Davey Smith,Kari Stefansson,Kari Stefansson,Nicholas Eriksson,Mark J. Daly,Mark J. Daly,Benjamin M. Neale,Benjamin M. Neale,Jes Olesen,Daniel I. Chasman,Daniel I. Chasman,Dale R. Nyholt,Aarno Palotie +133 more
TL;DR: For example, the authors identified 44 independent single-nucleotide polymorphisms (SNPs) significantly associated with migraine risk (P < 5 × 10−8) that mapped to 38 distinct genomic loci, including 28 loci not previously reported and a locus that to date is the first to be identified on chromosome X.
Journal ArticleDOI
Epidemiology of headache in Europe
TL;DR: It is demonstrated that headache disorders are extremely prevalent and have a vast impact on public health, and the data collected should be used as arguments to increase resources to headache research and care for headache patients all over the continent.
Journal ArticleDOI
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Anna Richards,Arn M. J. M. van den Maagdenberg,Joanna C. Jen,David J. Kavanagh,Paula Bertram,Dirk Spitzer,M. Kathryn Liszewski,Maria Louise Barilla-Labarca,Gisela M. Terwindt,Yumi Kasai,Michael D. McLellan,Mark Gilbert Grand,Kaate R J Vanmolkot,Boukje de Vries,Jijun Wan,Michael J. Kane,Hafsa Mamsa,Ruth Schäfer,Anine H. Stam,Joost Haan,Paulus T. V. M. de Jong,Paulus T. V. M. de Jong,Caroline W. Storimans,Mary J. van Schooneveld,J. A. Oosterhuis,Andreas Gschwendter,Martin Dichgans,Katya E. Kotschet,Suzanne Hodgkinson,Todd A. Hardy,Martin B. Delatycki,Rula A. Hajj-Ali,Parul H. Kothari,Stanley F. Nelson,Rune R. Frants,Robert W. Baloh,Michel D. Ferrari,John P. Atkinson +37 more
TL;DR: Heterozygous C-terminal frameshift mutations in TREX1 retain exonuclease activity but lose normal perinuclear localization, which has implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias.
Journal ArticleDOI
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
Kaate R J Vanmolkot,E. E. Kors,Jouke-Jan Hottenga,Gisela M. Terwindt,Joost Haan,Wil A.J. Hoefnagels,David F. Black,Lodewijk A. Sandkuijl,Rune R. Frants,Michel D. Ferrari,Arn M. J. M. van den Maagdenberg +10 more
TL;DR: Novel missense mutations in the ATP1A2 Na+,K+‐ATPase pump gene on chromosome 1q23 in two families with FHM are described, which involve dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.