Výsledky vyhledávání - Mikko Muona

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  1. 1
    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

    Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients Autor Julie Hathaway, Krista Heliö, Inka Saarinen, Jonna Tallila, Eija H. Seppälä, Sari Tuupanen, Hannu Turpeinen, Tiia Kangas‐Kontio, Jennifer Schleit, Johanna Tommiska, Ville Kytölä, Miko Valori, Mikko Muona, Johanna Sistonen, Massimiliano Gentile, Pertteli Salmenperä, Samuel Myllykangas, Jussi Paananen, Tero‐Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

    Vydáno 2021
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  2. 2
    Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia

    Mutation of the nuclear lamin gene<i>LMNB2</i>in progressive myoclonus epilepsy with early ataxia Autor John A. Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen Oliver, Hans‐Henrik M. Dahl, A. Eliot Shearer, Richard J. Smith, Nathan E. Hall, Khalid Mahmood, Richard J. Leventer, Ingrid E. Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D. Korczyn, Harald Herrmann, Samuel F. Berkovic, Michael S. Hildebrand

    Vydáno 2015
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  3. 3
    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

    Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy Autor Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riikka Keski‐Filppula, Riitta Herva, Heikki Rantala, Anders Paetau, Minna Pöyhönen, Miki Obata, Takefumi Uemura, Thomas Karhu, Norihisa Bizen, Hirohide Takebayashi, Shane McKee, Michael Parker, Nadia Akawi, Jeremy F. McRae, Matthew E. Hurles, Outi Kuismin, Mitja Kurki, Anna‐Kaisa Anttonen, Keiji Tanaka, Aarno Palotie, Satoshi Waguri, Anna‐Elina Lehesjoki, Masaaki Komatsu

    Vydáno 2016
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  4. 4
    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

    Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes Autor Carolina Courage, Karen Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betül Baykan, Christian Brandt, Carlo Di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, P. Riguzzi, Angelo Labate, Alessandro Filla, Anna Teresa Giallonardo, Géza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos D. Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna‐Elina Lehesjoki

    Vydáno 2021
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  5. 5
    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy Autor Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, Karen Oliver, Snezana Maljevic, Marta A. Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E. Heron, Michael S. Hildebrand, Eva Andermann, Frédérick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E. Scheffer, Chiara Criscuolo, Alessandro Filla, Edoardo Ferlazzo, Jamil Ahmad, Adeel Ahmad, Betül Baykan, Edith Said, Meral Topçu, P. Riguzzi, Mary D. King, Çiğdem Özkara, Danielle M. Andrade, Bernt A. Engelsen, Arielle Crespel, Matthias Lindenau, Ebba Lohmann, Veronica Saletti, João Massano, Michael Privitera, Alberto J. Espay, Brice Kauffmann, Michael Duchowny, Rikke S. Møller, Rachel Straussberg, Zaid Afawi, Bruria Ben‐Zeev, Kaitlin E. Samocha, Mark J. Daly, Steven Petrou, Holger Lerche, Aarno Palotie, Anna-Elina Lehesjoki

    Vydáno 2014
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  6. 6
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Autor Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Vydáno 2022
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  7. 7
    Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache

    Cross-trait analyses with migraine reveal widespread pleiotropy and suggest a vascular component to migraine headache Autor Katherine M. Siewert, Derek Klarin, Scott M. Damrauer, Kyong–Mi Chang, Philip S. Tsao, Themistocles L. Assimes, George Davey Smith, Benjamin F. Voight, Padhraig Gormley, Verneri Anttila, Bendik S. Winsvold, Priit Palta, Tõnu Esko, Tune H. Pers, Kai-How Farh, Ester Cuenca-León, Mikko Muona, Nicholas A. Furlotte, Tobias Kurth, Andrés Ingason, George McMahon, Lannie Ligthart, Gisela M. Terwindt, Mikko Kallela, Tobias Freilinger, Caroline Ran, Scott D. 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, Markus Schürks, Paul M. Ridker, Maria Gudlaug Hrafnsdottir, Hreinn Stefánsson, Susan M. Ring, Jouke‐Jan Hottenga, Brenda W.J.H. Penninx, Martti Färkkilâ, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C. Heath, Pamela A. F. Madden, Nicholas G. Martin, Grant W. Montgomery, Mitja Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Phil H. Lee, Cynthia Sandor, Caleb Webber, M. Zameel Cader, Bertram Müller‐Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G. Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, André G. Uitterlinden, Albert Hofman, Cornelia M. van Duijn, Lynn Cherkas, Linda M. Pedersen, Audun Stubhaug, Christopher Sivert Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Hansen, Thomas Werge, Sigrid Børte, Bru Cormand, Else Eising, Lyn R. Griffiths, Eija Hämäläinen, Marjo Hiekkala, Risto Kajanne, Lenore Launer, Terho Lehtimäki, Davor Lessel

    Vydáno 2020
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  8. 8
    Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

    Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine Autor Padhraig Gormley, Verneri Anttila, Bendik S. Winsvold, Priit Palta, Tõnu Esko, Tune H. Pers, Kai-How Farh, Ester Cuenca-León, Mikko Muona, Nicholas A. Furlotte, Tobias Kurth, Andrés Ingason, George McMahon, Lannie Ligthart, Gisela M. Terwindt, Mikko Kallela, Tobias Freilinger, Caroline Ran, Scott D. 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, Markus Schürks, Paul M. Ridker, Maria Gudlaug Hrafnsdottir, Hreinn Stefánsson, Susan M. Ring, Jouke‐Jan Hottenga, Brenda W.J.H. Penninx, Martti Färkkilâ, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C. Heath, Pamela A. F. Madden, Nicholas G. Martin, Grant W. Montgomery, Mitja Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Phil H. Lee, Cynthia Sandor, Caleb Webber, M. Zameel Cader, Bertram Müller‐Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G. Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, André G. Uitterlinden, Albert Hofman, Cornelia M. van Duijn, Lynn Cherkas, Linda M. Pedersen, Audun Stubhaug, Christopher Sivert Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Hansen, Thomas Werge, Jaakko Kaprio, Arpo Aromaa, 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, Dorret I. Boomsma, George Davey Smith, Kāri Stefánsson

    Vydáno 2016
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  9. 9
    A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

    A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine Autor Yanjun Guo, Pamela M. Rist, Iyas Daghlas, Franco Giulianini, Padhraig Gormley, Verneri Anttila, Bendik S. Winsvold, Priit Palta, Tõnu Esko, Tune H. Pers, Kai-How Farh, Ester Cuenca-León, Mikko Muona, Nicholas A. Furlotte, Tobias Kurth, Andrés Ingason, George McMahon, Lannie Ligthart, Gisela M. Terwindt, Mikko Kallela, Tobias Freilinger, Caroline Ran, Scott D. 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, Markus Schürks, Paul M. Ridker, Maria Gudlaug Hrafnsdottir, Hreinn Stefánsson, Susan M. Ring, Jouke‐Jan Hottenga, Brenda W.J.H. Penninx, Martti Färkkilâ, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Rainer Malik, Andrew C. Heath, Pamela A. F. Madden, Nicholas G. Martin, Grant W. Montgomery, Mitja Kurki, Mart Kals, Reedik Mägi, Kalle Pärn, Eija Hämäläinen, Hailiang Huang, Andrea Byrnes, Lude Franke, Jie Huang, Evie Stergiakouli, Phil H. Lee, Cynthia Sandor, Caleb Webber, M. Zameel Cader, Bertram Müller‐Myhsok, Stefan Schreiber, Thomas Meitinger, Johan G. Eriksson, Veikko Salomaa, Kauko Heikkilä, Elizabeth Loehrer, André G. Uitterlinden, Albert Hofman, Cornelia M. van Duijn, Lynn Cherkas, Linda M. Pedersen, Audun Stubhaug, Christopher Sivert Nielsen, Minna Männikkö, Evelin Mihailov, Lili Milani, Hartmut Göbel, Ann-Louise Esserlind, Anne Francke Christensen, Thomas Hansen, Thomas Werge, Jaakko Kaprio, Arpo Aromaa, 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

    Vydáno 2020
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