Found: 16

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  • Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

    Published in:
    EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1764, doi. 10.15252/emmm.201708525
    By:
    • Dejanovic, Borislav;
    • Djémié, Tania;
    • Grünewald, Nora;
    • Suls, Arvid;
    • Kress, Vanessa;
    • Hetsch, Florian;
    • Craiu, Dana;
    • Zemel, Matthew;
    • Gormley, Padhraig;
    • Lal, Dennis;
    • Myers, Candace T;
    • Mefford, Heather C;
    • Palotie, Aarno;
    • Helbig, Ingo;
    • Meier, Jochen C;
    • De Jonghe, Peter;
    • Weckhuysen, Sarah;
    • Schwarz, Guenter
    Publication type:
    Article

  • Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

    Published in:
    EMBO Molecular Medicine, 2015, v. 7, n. 12, p. 1580, doi. 10.15252/emmm.201505323
    By:
    • Dejanovic, Borislav;
    • Djémié, Tania;
    • Grünewald, Nora;
    • Suls, Arvid;
    • Kress, Vanessa;
    • Hetsch, Florian;
    • Craiu, Dana;
    • Zemel, Matthew;
    • Gormley, Padhraig;
    • Lal, Dennis;
    • Myers, Candace T;
    • Mefford, Heather C;
    • Palotie, Aarno;
    • Helbig, Ingo;
    • Meier, Jochen C;
    • De Jonghe, Peter;
    • Weckhuysen, Sarah;
    • Schwarz, Guenter
    Publication type:
    Article

  • The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.

    Published in:
    2018
    By:
    • Hiekkala, Marjo Eveliina;
    • Vuola, Pietari;
    • Artto, Ville;
    • Häppölä, Paavo;
    • Häppölä, Elisa;
    • Vepsäläinen, Salli;
    • Cuenca-León, Ester;
    • Lal, Dennis;
    • Gormley, Padhraig;
    • Hämäläinen, Eija;
    • Ilmavirta, Matti;
    • Nissilä, Markku;
    • Säkö, Erkki;
    • Sumelahti, Marja-Liisa;
    • Harno, Hanna;
    • Havanka, Hannele;
    • Keski-Säntti, Petra;
    • Färkkilä, Markus;
    • Palotie, Aarno;
    • Wessman, Maija
    Publication type:
    journal article

  • Genome-wide meta-analysis identifies new susceptibility loci for migraine.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 912, doi. 10.1038/ng.2676
    By:
    • Anttila, Verneri;
    • Winsvold, Bendik S;
    • Gormley, Padhraig;
    • Kurth, Tobias;
    • Bettella, Francesco;
    • McMahon, George;
    • Kallela, Mikko;
    • Malik, Rainer;
    • de Vries, Boukje;
    • Terwindt, Gisela;
    • Medland, Sarah E;
    • Todt, Unda;
    • McArdle, Wendy L;
    • Quaye, Lydia;
    • Koiranen, Markku;
    • Ikram, M Arfan;
    • Lehtimäki, Terho;
    • Stam, Anine H;
    • Ligthart, Lannie;
    • Wedenoja, Juho
    Publication type:
    Article

  • Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y
    By:
    • Kurki, Mitja I.;
    • Saarentaus, Elmo;
    • Pietiläinen, Olli;
    • Gormley, Padhraig;
    • Lal, Dennis;
    • Kerminen, Sini;
    • Torniainen-Holm, Minna;
    • Hämäläinen, Eija;
    • Rahikkala, Elisa;
    • Keski-Filppula, Riikka;
    • Rauhala, Merja;
    • Korpi-Heikkilä, Satu;
    • Komulainen-Ebrahim, Jonna;
    • Helander, Heli;
    • Vieira, Päivi;
    • Männikkö, Minna;
    • Peltonen, Markku;
    • Havulinna, Aki S.;
    • Salomaa, Veikko;
    • Pirinen, Matti
    Publication type:
    Article

  • Causal relationships between migraine and microstructural white matter: a Mendelian randomization study.

    Published in:
    Journal of Headache & Pain, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s10194-023-01550-z
    By:
    • Zhao, Lei;
    • Zhao, Wenhui;
    • International Headache Genetics Consortium (IHGC);
    • Anttila, Verneri;
    • Artto, Ville;
    • Belin, Andrea C.;
    • Bjornsdottir, Anna;
    • Bjornsdottir, Gyda;
    • Boomsma, Dorret I.;
    • Børte, Sigrid;
    • Chalmer, Mona A.;
    • Chasman, Daniel I.;
    • Cormand, Bru;
    • Cuenca-Leon, Ester;
    • Davey-Smith, George;
    • de Boer, Irene;
    • Dichgans, Martin;
    • Esko, Tonu;
    • Freilinger, Tobias;
    • Gormley, Padhraig
    Publication type:
    Article

  • Habitual sleep disturbances and migraine: a Mendelian randomization study.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2370, doi. 10.1002/acn3.51228
    By:
    • Daghlas, Iyas;
    • Vgontzas, Angeliki;
    • Guo, Yanjun;
    • Chasman, Daniel I.;
    • Saxena, Richa;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai‐How;
    • Cuenca‐Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.
    Publication type:
    Article

  • Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families.

    Published in:
    Cephalalgia, 2022, v. 42, n. 4/5, p. 345, doi. 10.1177/03331024211045651
    By:
    • Häppölä, Paavo;
    • Gormley, Padhraig;
    • Nuottamo, Marjo E;
    • Artto, Ville;
    • Sumelahti, Marja-Liisa;
    • Nissilä, Markku;
    • Keski-Säntti, Petra;
    • Ilmavirta, Matti;
    • Kaunisto, Mari A;
    • Hämäläinen, Eija I;
    • Ripatti, Samuli;
    • Pirinen, Matti;
    • Wessman, Maija;
    • Palotie, Aarno;
    • Kallela, Mikko
    Publication type:
    Article

  • Pitfalls in genetic testing: the story of missed SCN1A mutations.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 4, p. 457, doi. 10.1002/mgg3.217
    By:
    • Djémié, Tania;
    • Weckhuysen, Sarah;
    • Spiczak, Sarah;
    • Carvill, Gemma L.;
    • Jaehn, Johanna;
    • Anttonen, Anna‐Kaisa;
    • Brilstra, Eva;
    • Caglayan, Hande S.;
    • Kovel, Carolien G.;
    • Depienne, Christel;
    • Gaily, Eija;
    • Gennaro, Elena;
    • Giraldez, Beatriz G.;
    • Gormley, Padhraig;
    • Guerrero‐López, Rosa;
    • Guerrini, Renzo;
    • Hämäläinen, Eija;
    • Hartmann, Corinna;
    • Hernandez‐Hernandez, Laura;
    • Hjalgrim, Helle
    Publication type:
    Article

  • Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150426
    By:
    • Lal, Dennis;
    • Reinthaler, Eva M.;
    • Dejanovic, Borislav;
    • May, Patrick;
    • Thiele, Holger;
    • Lehesjoki, Anna-Elina;
    • Schwarz, Günter;
    • Riesch, Erik;
    • Ikram, M. Arfan;
    • Duijn, Cornelia M. van;
    • Uitterlinden, Andre G.;
    • Hofman, Albert;
    • Steinböck, Hannelore;
    • Gruber-Sedlmayr, Ursula;
    • Neophytou, Birgit;
    • Zara, Federico;
    • Hahn, Andreas;
    • null, null;
    • Gormley, Padhraig;
    • Becker, Felicitas
    Publication type:
    Article

  • Migraine, inflammatory bowel disease and celiac disease: A Mendelian randomization study.

    Published in:
    Headache: The Journal of Head & Face Pain, 2023, v. 63, n. 5, p. 642, doi. 10.1111/head.14470
    By:
    • Welander, Nike Zoe;
    • Rukh, Gull;
    • Rask‐Andersen, Mathias;
    • Harder, Aster V. E.;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai‐How;
    • Cuenca‐Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.;
    • Kallela, Mikko
    Publication type:
    Article

  • De novo mutations in schizophrenia implicate synaptic networks.

    Published in:
    Nature, 2014, v. 506, n. 7487, p. 179, doi. 10.1038/nature12929
    By:
    • Fromer, Menachem;
    • Pocklington, Andrew J.;
    • Kavanagh, David H.;
    • Williams, Hywel J.;
    • Dwyer, Sarah;
    • Gormley, Padhraig;
    • Georgieva, Lyudmila;
    • Rees, Elliott;
    • Palta, Priit;
    • Ruderfer, Douglas M.;
    • Carrera, Noa;
    • Humphreys, Isla;
    • Johnson, Jessica S.;
    • Roussos, Panos;
    • Barker, Douglas D.;
    • Banks, Eric;
    • Milanova, Vihra;
    • Grant, Seth G.;
    • Hannon, Eilis;
    • Rose, Samuel A.
    Publication type:
    Article

  • Problem solving techniques in cognitive science.

    Published in:
    Artificial Intelligence Review, 2010, v. 34, n. 3, p. 221, doi. 10.1007/s10462-010-9171-0
    By:
    • Condell, Joan;
    • Wade, John;
    • Galway, Leo;
    • McBride, Michael;
    • Gormley, Padhraig;
    • Brennan, Joseph;
    • Somasundram, Thiyagesan
    Publication type:
    Article

  • Migraine genetics: from genome-wide association studies to translational insights.

    Published in:
    2016
    By:
    • Gormley, Padhraig;
    • Winsvold, Bendik S.;
    • Nyholt, Dale R.;
    • Kallela, Mikko;
    • Chasman, Daniel I.;
    • Palotie, Aarno
    Publication type:
    Opinion

  • A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17002-0
    By:
    • Guo, Yanjun;
    • Rist, Pamela M.;
    • Daghlas, Iyas;
    • Giulianini, Franco;
    • The International Headache Genetics Consortium;
    • Gormley, Padhraig;
    • Anttila, Verneri;
    • Winsvold, Bendik S.;
    • Palta, Priit;
    • Esko, Tonu;
    • Pers, Tune H.;
    • Farh, Kai-How;
    • Cuenca-Leon, Ester;
    • Muona, Mikko;
    • Furlotte, Nicholas A.;
    • Kurth, Tobias;
    • Ingason, Andres;
    • McMahon, George;
    • Ligthart, Lannie;
    • Terwindt, Gisela M.
    Publication type:
    Article

  • Shared genetic risk between migraine and coronary artery disease: A genome-wide analysis of common variants.

    Published in:
    PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185663
    By:
    • Winsvold, Bendik S.;
    • Bettella, Francesco;
    • Witoelar, Aree;
    • Anttila, Verneri;
    • Gormley, Padhraig;
    • Kurth, Tobias;
    • Terwindt, Gisela M.;
    • Freilinger, Tobias M.;
    • Frei, Oleksander;
    • Shadrin, Alexey;
    • Wang, Yunpeng;
    • Dale, Anders M.;
    • van den Maagdenberg, Arn M. J. M.;
    • Chasman, Daniel I.;
    • Nyholt, Dale R.;
    • Palotie, Aarno;
    • Andreassen, Ole A.;
    • Zwart, John-Anker;
    • null, null
    Publication type:
    Article