C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Atkinson, John P, 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, Gschwendter, Andreas, Dichgans, Martin, Kotschet, Katya E, Hodgkinson, Suzanne, Hardy, Todd A, Delatycki, Martin B, Hajj-Ali, Rula A, Kothari, Parul H, Nelson, Stanley F, Frants, Rune R, Baloh, Robert W, Ferrari, Michel D
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
Duijf, Pascal H. G., Vanmolkot, Kaate R. J., Propping, Peter, Friedl, Waltraut, Krieger, Elmar, McKeon, Frank, Dötsch, Volker, Brunner, Han G., van Bokhoven, Hans
Published in Human molecular genetics (01.04.2002)
Published in Human molecular genetics (01.04.2002)
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Journal Article
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions
Vanmolkot, Kaate R. J., Kors, Esther E., Hottenga, Jouke-Jan, Terwindt, Gisela M., Haan, Joost, Hoefnagels, Wil A. J., Black, David F., Sandkuijl, Lodewijk A., Frants, Rune R., Ferrari, Michel D., Van Den Maagdenberg, Arn M. J. M.
Published in Annals of neurology (01.09.2003)
Published in Annals of neurology (01.09.2003)
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Journal Article
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine
VANMOLKOT, Kaate R. J, STAM, Anine H, BAJAJ, Nin, TERWINDT, Gisela M, HAAN, Joost, FRANTS, Rune R, FERRARI, Michel D, VAN DEN MAAGDENBERG, Arn M. J. M, RAMAN, Ashok, KOENDERINK, Jan B, DE VRIES, Boukje, VAN DEN BOOJERD, Eelke H, VAN VARK, Judith, HAAN, VAN DEN HEUVEL, Jeroen J. M. W
Published in European journal of human genetics : EJHG (01.08.2007)
Published in European journal of human genetics : EJHG (01.08.2007)
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Journal Article
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine
VANMOLKOT, Kaate R. J, KORS, Esther E, FRANTS, Rune R, BARONE, Virginia, FERRARI, Michel D, CASARI, Giorgio, KOENDERINK, Jan B, VAN DEN MAAGDENBERG, Arn M. J. M, TURK, Ulku, TURKDOGAN, Dylsad, KEYSER, Antoine, BROOS, Ludo A. M, KIA, Sima Kheradmand, VAN DEN HEUVEL, Jeroen J. M. W, BLACK, David F, HAAN, Joost
Published in European journal of human genetics : EJHG (01.05.2006)
Published in European journal of human genetics : EJHG (01.05.2006)
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Journal Article
Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation
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.
Published in Epilepsia (Copenhagen) (01.11.2009)
Published in Epilepsia (Copenhagen) (01.11.2009)
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Journal Article
The Phe-124-Cys and A-161T Variants of the Human 5-HT1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan
Mehrotra, Suneet, Vanmolkot, Kaate R. J., Frants, Rune R., Van Den Maagdenberg, Arn M. J. M., Ferrari, Michel D., MaassenVanDenBrink, Antoinette
Published in Headache (01.05.2007)
Published in Headache (01.05.2007)
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Journal Article
Migraine genetics: an update
Haan, J, Kors, E E, Vanmolkot, Kaate R J, van den Maagdenberg, Arn M J M, Frants, Rune R, Ferrari, M D
Published in Current pain and headache reports (01.06.2005)
Published in Current pain and headache reports (01.06.2005)
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Journal Article
Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake
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
Published in Archives of neurology (Chicago) (01.01.2009)
Published in Archives of neurology (Chicago) (01.01.2009)
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Journal Article
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine
Castro, Maria-José, Stam, Anine H, Lemos, Carolina, Barros, José, Gouveia, Raquel G, Martins, Isabel Pavão, Koenderink, Jan B, Vanmolkot, Kaate R J, Mendes, Alexandre P, Frants, Rune R, Ferrari, Michel D, Sequeiros, Jorge, Pereira-Monteiro, José M, van den Maagdenberg, Arn M J M
Published in Journal of human genetics (01.12.2007)
Published in Journal of human genetics (01.12.2007)
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Journal Article
p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation
van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.
Published in American journal of human genetics (01.09.2001)
Published in American journal of human genetics (01.09.2001)
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Journal Article
Toward a molecular genetic classification of familial hemiplegic migraine
Haan, Joost, Kors, Esther E, van den Maagdenberg, Arn M J M, Vanmolkot, Kaate R J, Terwindt, Gisela M, Frants, Rune R, Ferrari, Michel D
Published in Current pain and headache reports (01.06.2004)
Published in Current pain and headache reports (01.06.2004)
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Journal Article
Recent findings in headache genetics
Kors, Esther E, Vanmolkot, Kaate R J, Haan, Joost, Frants, Rune R, van den Maagdenberg, Arn M J M, Ferrari, Michel D
Published in Current opinion in neurology (01.06.2004)
Published in Current opinion in neurology (01.06.2004)
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Journal Article
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families
Lopes, Luciana R, Peres, Mario Fernando Prieto, Vanmolkot, Kaate R J, Tobo, Patrícia R, Zukerman, Eliova, Frants, Rune R, van den Maagdenberg, Arn M J M, Moreira-Filho, Carlos Alberto
Published in Arquivos de neuro-psiquiatria (01.09.2006)
Published in Arquivos de neuro-psiquiatria (01.09.2006)
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Journal Article
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online
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
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Journal Article
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
MCGRATH, John A, DUIJF, Pascal H. G, ORLOW, Seth J, VAN HAERINGEN, Arie, AUSEMS, Margreet G. E. M, YANG, Annle, MCKEON, Frank, BAMSHAD, Michael A, BRUNNER, Han G, HAMEL, Ben C. J, VAN BOKHOVEN, Hans, DOETSCH, Volker, IRVINE, Alan D, DE WAAL, Rob, VANMOLKOT, Kaate R. J, WESSAGOWIT, Vesarat, KELLY, Alexander, ATHERTON, David J, GRIFFITHS, W. Andrew D
Published in Human molecular genetics (01.02.2001)
Published in Human molecular genetics (01.02.2001)
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Journal Article
The Phe‐124‐Cys and A‐161T Variants of the Human 5‐HT 1B Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan
Mehrotra, Suneet, Vanmolkot, Kaate R. J., Frants, Rune R., Van Den Maagdenberg, Arn M. J. M., Ferrari, Michel D., MaassenVanDenBrink, Antoinette
Published in Headache (01.05.2007)
Published in Headache (01.05.2007)
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Journal Article
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies
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
Published in Human mutation (01.05.2007)
Published in Human mutation (01.05.2007)
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Journal Article
The Phe-124-Cys and A-161T Variants of the Human 5-HT sub(1B) Receptor Gene Are Not Major Determinants of the Clinical Response to Sumatriptan
Mehrotra, Suneet, Vanmolkot, Kaate RJ, Frants, Rune R, Van Den Maagdenberg, Arn MJM, Ferrari, Michel D, MaassenVanDenBrink, Antoinette
Published in Headache (01.05.2007)
Published in Headache (01.05.2007)
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