Výsledky vyhledávání - Martin Krenn

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  1. 1
    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

    Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum Autor Martin Krenn, Elisabeth Salzer, Ingrid Simonitsch‐Klupp, Jakob Rath, Matias Wagner, Tobias B. Haack, Tim M. Strom, Anne Schänzer, Manfred W. Kilimann, Ralf Schmidt, Klaus G. Schmetterer, Alexander Zimprich, Kaan Boztuğ, Andreas Hahn, Fritz Zimprich

    Vydáno 2017
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  2. 2
    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia Autor Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann

    Vydáno 2025
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  3. 3
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study Autor Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Vydáno 2020
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  4. 4
    Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

    Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Autor Patrick May, Simon Girard, Merle Harrer, Dheeraj Reddy Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance‐Touchette, Caroline Meloche, Micheline Gravel, Cristina Elena Niturad, Julia Knaus, Carolien G. F. de Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann‐Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D. Coombs, Christopher A. Reid, Pasquale Striano, Hande Çağlayan, Auli Sirén, Kate V. Everett, Rikke S. Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S. Kunz, Yvonne G. Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M. Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria Stella Vari, Dorothee Kasteleijn‐Nolst Trenité, Betül Baykan, Uğur Özbek, Nerses Bebek, Karl Martin Klein, Felix Rosenow, Dang Khoa Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta‐Walti, Graeme J. Sills, Pauls Auce, Ben Francis, Michael R. Johnson, Anthony G Marson, Bianca Berghuis, Josemir W. Sander, Andreja Avberšek, Mark McCormack, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M. Arfan Ikram, André G. Uitterlinden, G. Avanzini, Stéphanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, José M. Serratosa, Bobby P.C. Koeleman, Aarno Palotie, Anna‐Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Patrick May, Simon Girard

    Vydáno 2018
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  5. 5
    Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies Autor Bassel Abou‐Khalil, Pauls Auce, Andreja Avberšek, Melanie Bahlo, David J. Balding, Thomas Bast, Larry Baum, Albert J. Becker, Felicitas Becker, Bianca Berghuis, Samuel F. Berkovic, Katja Boysen, Jonathan P. Bradfield, Lawrence C. Brody, Russell J. Buono, Ellen Campbell, Gregory D. Cascino, Claudia B. Catarino, Gianpiero L. Cavalleri, Stacey S. Cherny, Krishna Chinthapalli, Alison J. Coffey, Alastair Compston, Antonietta Coppola, Patrick Cossette, John Craig, Gerrit‐Jan de Haan, Peter De Jonghe, Carolien G. F. de Kovel, Norman Delanty, Chantal Depondt, Orrin Devinsky, Dennis Dlugos, Colin P. Doherty, Christian E. Elger, Johan G. Eriksson, Thomas N. Ferraro, Martha Feucht, Ben Francis, André Franke, Jacqueline A. French, Saskia Freytag, Verena Gaus, Eric B. Geller, Christian Gieger, Tracy A. Glauser, Simon Glynn, David B. Goldstein, Hongsheng Gui, Youling Guo, Kevin F. Haas, Hákon Hákonarson, Kerstin Hallmann, Sheryl R. Haut, Erin L. Heinzen, Ingo Helbig, Christian Hengsbach, Helle Hjalgrim, Michele Iacomino, Andrés Ingason, Jennifer Jamnadas-Khoda, Michael R. Johnson, Reetta Kälviäinen, Anne-Mari Kantanen, Dalia Kasperavičiūtė, Dorothee Kasteleijn‐Nolst Trenité, Heidi E. Kirsch, Robert C. Knowlton, Bobby P.C. Koeleman, Roland Krause, Martin Krenn, Wolfram S. Kunz, Ruben Kuzniecky, Patrick Kwan, Dennis Lal, YL Lau, Anna‐Elina Lehesjoki, Holger Lerche, Costin Leu, Wolfgang Lieb, Dick Lindhout, Warren Lo, Íscia Lopes‐Cendes, Daniel H. Lowenstein, Alberto Malovini, Anthony G Marson, Patrick May, Mark McCormack, James L. Mills, Nasir Mirza, Martina Moerzinger, Rikke S. Møller, Anne M. Molloy, Hiltrud Muhle, Mark R. Newton, Ping-Wing Ng, Markus M. Nöthen, Peter Nürnberg, Terence J. O’Brien, Karen Oliver

    Vydáno 2018
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