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  1. Tracey D. Graves; Paola Imbrici; Esther E. Kors; Gisela M. Terwindt; Louise H. Eunson; Rune R. Frants; Joost Haan; Michel D. Ferrari; Peter J. Goadsby; Michael G. Hanna; Arn M.J.M. van den Maagdenberg; Dimitri M. Kullmann

    Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2

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    2008

    Published in: Neurobiology of Disease

  2. Pelzer, Nadine; Haan, Joost; Stam, Anine H.; Vijfhuizen, Lisanne S.; Koelewijn, Stephany C.; Smagge, Amber; de Vries, Boukje; Ferrari, Michel D.; van den Maagdenberg, Arn M.J.M.; Terwindt, Gisela M.

    Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation

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    Ovid Technologies (Wolters Kluwer Health), 2018

    Published in: Neurology

  3. van Etten, Ellis S.; Verbeek, Marcel M.; van der Grond, Jeroen; Zielman, Ronald; van Rooden, Sanneke; van Zwet, Erik W.; van Opstal, Anna M.; Haan, Joost; Greenberg, Steven M.; van Buchem, Mark A.; Wermer, Marieke J.H.; Terwindt, Gisela M.

    β-Amyloid in CSF : Biomarker for preclinical cerebral amyloid angiopathy : Biomarker for preclinical cerebral amyloid angiopathy

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    Ovid Technologies (Wolters Kluwer Health), 2017

    Published in: Neurology

  4. van Etten, Ellis S.; Gurol, M. Edip; van der Grond, Jeroen; Haan, Joost; Viswanathan, Anand; Schwab, Kristin M.; Ayres, Alison M.; Algra, Ale; Rosand, Jonathan; van Buchem, Mark A.; Terwindt, Gisela M.; Greenberg, Steven M.; Wermer, Marieke J.H.

    Recurrent hemorrhage risk and mortality in hereditary and sporadic cerebral amyloid angiopathy

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    Ovid Technologies (Wolters Kluwer Health), 2016

    Published in: Neurology

  5. Vanmolkot, Kaate R J; Stam, Anine H; Raman, Ashok; Koenderink, Jan B; de Vries, Boukje; van den Boogerd, Eelke H; van Vark, Judith; van den Heuvel, Jeroen J M W; Bajaj, Nin; Terwindt, Gisela M; Haan, Joost; Frants, Rune R; Ferrari, Michel D; van den Maagdenberg, Arn M J M

    First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine

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    Springer Science and Business Media LLC, 2007

    Published in: European Journal of Human Genetics

  6. de Vries, Boukje; Mamsa, Hafsa; Stam, Anine H.; Wan, Jijun; Bakker, Stef L. M.; Vanmolkot, Kaate R. J.; Haan, Joost; Terwindt, Gisela M.; Boon, Elles M. J.; Howard, Bruce D.; Frants, Rune R.; Baloh, Robert W.; Ferrari, Michel D.; Jen, Joanna C.; van den Maagdenberg, Arn M. J. M.

    Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

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    American Medical Association (AMA), 2009

    Published in: Archives of Neurology

  7. De Vries, Boukje; Stam, Anine H.; Kirkpatrick, Martin; Vanmolkot, Kaate R.J.; Koenderink, Jan B.; Van Den Heuvel, Jeroen J.M.W.; Stunnenberg, Bas; Goudie, David; Shetty, Jay; Jain, Vivek; Van Vark, Judith; Terwindt, Gisela M.; Frants, Rune R.; Haan, Joost; Van Den Maagdenberg, Arn M.J.M.; Ferrari, Michel D.

    Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

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    Wiley, 2009

    Published in: Epilepsia

  8. Vanmolkot, Kaate R.J.; Babini, Elena; de Vries, Boukje; Stam, Anine H.; Freilinger, Tobias; Terwindt, Gisela M.; Norris, Lisa; Haan, Joost; Frants, Rune R.; Ramadan, Nabih M.; Ferrari, Michel D.; Pusch, Michael; van den Maagdenberg, Arn M.J.M.; Dichgans, Martin

    The novel p.L1649Q mutation in theSCN1Aepilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

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    Hindawi Limited, 2007

    Published in: Human Mutation

  9. Ophoff, Roel A; Terwindt, Gisela M; Vergouwe, Monique N; van Eijk, Ronald; Oefner, Peter J; Hoffman, Susan M.G; Lamerdin, Jane E; Mohrenweiser, Harvey W; Bulman, Dennis E; Ferrari, Maurizio; Haan, Joost; Lindhout, Dick; van Ommen, Gert-Jan B; Hofker, Marten H; Ferrari, Michel D; Frants, Rune R

    Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

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    Elsevier BV, 1996

    Published in: Cell

  10. Richards, Anna; van den Maagdenberg, Arn M J M; Jen, Joanna C; Kavanagh, David; Bertram, Paula; Spitzer, Dirk; Liszewski, M Kathryn; Barilla-LaBarca, Maria-Louise; Terwindt, Gisela M; Kasai, Yumi; McLellan, Mike; Grand, Mark Gilbert; Vanmolkot, Kaate R J; de Vries, Boukje; Wan, Jijun; Kane, Michael J; Mamsa, Hafsa; Schäfer, Ruth; Stam, Anine H; Haan, Joost; de Jong, Paulus T V M; Storimans, Caroline W; van Schooneveld, Mary J; Oosterhuis, Jendo A; [...]

    C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

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    Springer Science and Business Media LLC, 2007

    Published in: Nature Genetics

  11. Stam, Anine H.; Kothari, Parul H.; Shaikh, Aisha; Gschwendter, Andreas; Jen, Joanna C.; Hodgkinson, Suzanne; Hardy, Todd A.; Hayes, Michael; Kempster, Peter A.; Kotschet, Katya E.; Bajema, Ingeborg M.; van Duinen, Sjoerd G.; Maat-Schieman, Marion L. C.; de Jong, Paulus T. V. M.; de Smet, Marc D.; de Wolff-Rouendaal, Didi; Dijkman, Greet; Pelzer, Nadine; Kolar, Grant R.; Schmidt, Robert E.; Lacey, JoAnne; Joseph, Daniel; Fintak, David R.; Grand, M. Gilbert; [...]

    Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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    Oxford University Press (OUP), 2016

    Published in: Brain