Resultados de búsqueda - Barbara Schormair

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  1. 1
    Diagnostic exome sequencing in early‐onset Parkinson's disease confirms <i>VPS13C</i> as a rare cause of autosomal‐recessive Parkinson's disease

    Diagnostic exome sequencing in early‐onset Parkinson's disease confirms <i>VPS13C</i> as a rare cause of autosomal‐recessive Parkinson's disease por Barbara Schormair, David Kemlink, Brit Mollenhauer, Ondřej Fiala, Gerrit Machetanz, Jan Roth, Riccardo Berutti, Tim M. Strom, Bernhard Haslinger, Claudia Trenkwalder, Daniela Záhoráková, Pavel Martásek, Evžen Růžička, Juliane Winkelmann

    Publicado 2017
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  2. 2
    Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

    Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia por Michael Zech, Daniel D. Lam, Ludmila Francescatto, Barbara Schormair, Aaro V. Salminen, Angela Jochim, Thomas Wieland, Peter Lichtner, Annette Peters, Christian Gieger, Hanns Lochmüller, Tim M. Strom, Bernhard Haslinger, Nicholas Katsanis, Juliane Winkelmann

    Publicado 2015
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  3. 3
    HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency

    HLA DQB1*06:02 Negative Narcolepsy with Hypocretin/Orexin Deficiency por Fang Han, Ling Lin, Barbara Schormair, Fabio Pizza, Giuseppe Plazzi, Hanna M. Ollila, Soňa Nevšímalová, Poul Jennum, Stine Knudsen, Juliane Winkelmann, Cristin Coquillard, Farbod Babrzadeh, Tim M. Strom, Chunlin Wang, Michael Mindrinos, Marcelo Fernández-Viña, Emmanuel Mignot

    Publicado 2014
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  4. 4
    Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

    Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy por Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte Rahbek Kornum, Juliette Faraco, Giuseppe Plazzi, Atle Melberg, F. Cornelio, Alexander E. Urban, Fabio Pizza, Francesca Poli, Fabian Grubert, Thomas Wieland, Elisabeth Graf, Joachim Hallmayer, Tim M. Strom, Emmanuel Mignot

    Publicado 2012
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  5. 5
    MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease

    MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease por Barbara Schormair, Jens Plag, Maria Kaffe, Nicholas J. Gross, Darina Czamara, W. Samtleben, Peter Lichtner, Andreas Ströhle, Ioannis Stefanidis, A. Vainas, Efthimios Dardiotis, Giorgos K. Sakkas, Christian Gieger, Bertram Müller‐Myhsok, Thomas Meitinger, U. Heemann, Georgios M. Hadjigeorgiou, Konrad Oexle, Juliane Winkelmann

    Publicado 2011
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  6. 6
    Replication of restless legs syndrome loci in three European populations

    Replication of restless legs syndrome loci in three European populations por David Kemlink, Olli Polo, Birgit Frauscher, Viola Gschliesser, Birgit Högl, Werner Poewe, Pavel Vodička, Jana Vávrová, Karel Šonka, Soňa Nevšímalová, Barbara Schormair, Peter Lichtner, Kaisa Silander, L. Peltonen, Christian Gieger, H.‐Erich Wichmann, Alexander Zimprich, Darina Roeske, Bertram Müller‐Myhsok, Thomas Meitinger, Juliane Winkelmann

    Publicado 2009
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  7. 7
    Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits

    Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits por Anke R. Hammerschlag, Sven Stringer, Christiaan de Leeuw, Suzanne Sniekers, Erdogan Taskesen, Kyoko Watanabe, Tessa F. Blanken, Kim Dekker, Bart H. W. Te Lindert, Rick Wassing, Ingileif Jónsdóttir, Guðmar Þorleifsson, Hreinn Stefánsson, Þórarinn Gíslason, Kenneth I. Berger, Barbara Schormair, Juergen Wellmann, Juliane Winkelmann, Kāri Stefánsson, Konrad Oexle, Eus J.W. Van Someren, Daniëlle Posthuma

    Publicado 2017
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  8. 8
    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset

    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset por Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, Theresa Brunet, Matias Wagner, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Ján Necpál, David Weise, Sandrina Weber, Brit Mollenhauer, Claudia Trenkwalder, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Annette Hackenberg, Veronika Pilshofer, Urania Kotzaeridou, Eva Maria Christina Schwaibold, Julia Hoefele, Mélanie Waldenberger, Christian Gieger, Annette Peters, Thomas Meitinger, Barbara Schormair, Juliane Winkelmann, Konrad Oexle

    Publicado 2021
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  9. 9
    Restless Legs Syndrome-associated intronic common variant in <i>Meis1</i> alters enhancer function in the developing telencephalon

    Restless Legs Syndrome-associated intronic common variant in <i>Meis1</i> alters enhancer function in the developing telencephalon por Derek Spieler, Maria Kaffe, Felix Knauf, José Bessa, Juan J. Tena, Florian Giesert, Barbara Schormair, Erik Tilch, Heekyoung Lee, Marion Horsch, Darina Czamara, Nazanin Karbalai, Christine von Toerne, Mélanie Waldenberger, Christian Gieger, Peter Lichtner, Melina Claussnitzer, Ronald Naumann, Bertram Müller‐Myhsok, Miguel Torres, Lillian Garrett, Jan Rozman, Martin Klingenspor, Valérie Gailus‐Durner, Helmut Fuchs, Martin Hrabě de Angelis, Johannes Beckers, Sabine M. Hölter, Thomas Meitinger, Stefanie M. Hauck, Helmut Laumen, Wolfgang Wurst, Fernando Casares, José Luis Gómez-Skármeta, Juliane Winkelmann

    Publicado 2014
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  10. 10
    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy por Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, Tom Walsh, Judith Barash, Shai Padeh, Abraham Zlotogorski, Yackov Berkun, Joseph J. Press, M Mukamel, Isabel Voth, Philip J. Hashkes, Liora Harel, Vered Hoffer, Eduard Ling, Fatoş Yalçınkaya, Özgür Kasapçopur, Ming K. Lee, Rachel E. Klevit, Paul Renbaum, Ariella Weinberg‐Shukron, Elif Funda Şener, Barbara Schormair, Sharon Zeligson, Dina Marek‐Yagel, Tim M. Strom, Mordechai Shohat, Amihood Singer, Alan Rubinow, Elon Pras, Juliane Winkelmann, Mustafa Tekin, Yair Anikster, Mary‐Claire King, Ephrat Levy‐Lahad

    Publicado 2014
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  11. 11
    Biological and clinical insights from genetics of insomnia symptoms

    Biological and clinical insights from genetics of insomnia symptoms por Jacqueline M. Lane, Samuel E. Jones, Hassan S. Dashti, Andrew R. Wood, Krishna G. Aragam, Vincent T. van Hees, Linn Beate Strand, Bendik S. Winsvold, Heming Wang, Jack Bowden, Yanwei Song, Krunal Patel, Simon Anderson, Robin N. Beaumont, David A. Bechtold, Brian E. Cade, Mary E. Haas, Sekar Kathiresan, Max A. Little, Annemarie I. Luik, Andrew Loudon, Shaun Purcell, Rebecca C. Richmond, Frank A. J. L. Scheer, Barbara Schormair, Jessica Tyrrell, John W. Winkelman, Juliane Winkelmann, Kristian Hveem, Chen Zhao, Jonas B. Nielsen, Cristen J. Willer, Susan Redline, Kai Spiegelhalder, Simon D. Kyle, David Ray, John‐Anker Zwart, Ben Brumpton, Timothy M. Frayling, Debbie A. Lawlor, Martin K. Rutter, Michael N. Weedon, Richa Saxena

    Publicado 2019
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  12. 12
    Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

    Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 por Juliane Winkelmann, Darina Czamara, Barbara Schormair, Felix Knauf, Eva C. Schulte, Claudia Trenkwalder, Yves Dauvilliers, Olli Polo, Birgit Högl, Kenneth I. Berger, Andrea Fuhs, Nadine Groß, Karin Stiasny‐Kolster, Wolfgang H. Oertel, Cornelius G. Bachmann, Walter Paulus, Lan Xiong, Jacques Montplaisir, Guy A. Rouleau, Ingo Fietze, Jana Vávrová, David Kemlink, Karel Šonka, Soňa Nevšímalová, Siong-Chi Lin, Zbigniew K. Wszołek, Carles Vilariño‐Güell, Matthew J. Farrer, Viola Gschliesser, Birgit Frauscher, Tina Falkenstetter, Werner Poewe, Richard P. Allen, Christopher J. Earley, William G. Ondo, Wei-Dong Le, Derek Spieler, Maria Kaffe, Alexander Zimprich, Johannes Kettunen, Markus Perola, Kaisa Silander, Isabelle Cournu‐Rebeix, Marcella Francavilla, Claire Fontenille, Bertrand Fontaine, Pavel Vodička, Holger Prokisch, Peter Lichtner, Paul E. Peppard, Juliette Faraco, Emmanuel Mignot, Christian Gieger, Thomas Illig, H.‐Erich Wichmann, Bertram Müller‐Myhsok, Thomas Meitinger

    Publicado 2011
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  13. 13
    Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction

    Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction por Barbara Schormair, Chen Zhao, Steven Bell, Maria Didriksen, Muhammad Sulaman Nawaz, Nathalie Schandra, Ambra Stefani, Birgit Högl, Yves Dauvilliers, Cornelius G. Bachmann, David Kemlink, Karel Šonka, Walter Paulus, Claudia Trenkwalder, Wolfgang H. Oertel, Magdolna Hornyak, Maris Teder‐Laving, Andres Metspalu, Georgios M. Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A. Ross, Zbigniew K. Wszołek, Abubaker Ibrahim, Melanie Bergmann, Volker Kittke, Philip Harrer, Joseph Dowsett, Sofiène Chenini, Sisse Rye Ostrowski, Erik Sørensen, Christian Erikstrup, Ole Birger Pedersen, Mie Topholm Bruun, Kaspar René Nielsen, Adam S. Butterworth, Nicole Soranzo, Willem H. Ouwehand, David J. Roberts, John Danesh, Brendan Burchell, Nicholas A. Furlotte, Priyanka Nandakumar, Amélie Bonnefond, Louis Potier, Christopher J. Earley, William G. Ondo, Lan Xiong, Alex Désautels, Markus Perola, Pavel Vodička, Christian Dina, Monika Stoll, André Franke, Wolfgang Lieb, Alexandre F.R. Stewart, Svati H. Shah, Christian Gieger, Annette Peters, David B. Rye, Guy A. Rouleau, Klaus Berger, Hreinn Stefánsson, Henrik Ullum, Hreinn Stefánsson, David A. Hinds, Emanuele Di Angelantonio, Konrad Oexle, Juliane Winkelmann

    Publicado 2024
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  14. 14
    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 por 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

    Publicado 2025
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  15. 15
    Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

    Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis por Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V. Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Šonka, Cornelius G. Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H. Oertel, Magdolna Hornyak, Maris Teder‐Laving, Andres Metspalu, Georgios M. Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A. Ross, Zbigniew K. Wszołek, Adam S. Butterworth, Nicole Soranzo, Willem H. Ouwehand, David J. Roberts, John Danesh, Richard P. Allen, Christopher J. Earley, William G. Ondo, Lan Xiong, Jacques Montplaisir, Ziv Gan‐Or, Markus Perola, Pavel Vodička, Christian Dina, André Franke, Lukas Tittmann, Alexandre F.R. Stewart, Svati H. Shah, Christian Gieger, Annette Peters, Guy A. Rouleau, Klaus Berger, Konrad Oexle, Emanuele Di Angelantonio, David A. Hinds, Bertram Müller‐Myhsok, Juliane Winkelmann, Beverley Balkau, Pierre Ducimetière, Eveline Eschwège, Fanny Rancière, François Alhenc–Gelas, Yves Gallois, A Girault, Frédéric Fumeron, Michel Marre, Ronan Roussel, Fabrice Bonnet, Amélie Bonnefond, Stéphane Cauchi, Philippe Froguel, Joël Cogneau, C. Born, E Cacès, M. Cailleau, Olivier Lantieri, J.G. Moreau, F Rakotozafy, Jean Tichet, Sylviane Vol, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, David A. Hinds, Bethann S. Hromatka, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Matthew H. McIntyre, Joanna L. Mountain, Carrie A. M. Northover, Steven J. Pitts, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Vladimir Vacic, Catherine H. Wilson

    Publicado 2017
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