Ngā hua rapu - David Kemlink
- E whakaatu ana i te 1 - 17 hua o te 17
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Diagnostic exome sequencing in early‐onset Parkinson's disease confirms <i>VPS13C</i> as a rare cause of autosomal‐recessive Parkinson's disease mā 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
I whakaputaina 2017Artigo -
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Simultaneous tonic and phasic REM sleep without atonia best predicts early phenoconversion to neurodegenerative disease in idiopathic REM sleep behavior disorder mā Jiří Nepožitek, Simona Dostálová, Petr Dušek, David Kemlink, Iva Příhodová, Veronika Ibarburu Lorenzo y Losada, Latica Friedrich, Ondřej Bezdíček, Tomáš Nikolai, Pavla Peřinová, Irene Dall’Antonia, Pavel Dušek, Martin Ruml, Evžen Růžička, Karel Šonka
I whakaputaina 2019Artigo -
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Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13 mā David Kemlink, Giuseppe Plazzi, Roberto Vetrugno, Federica Provini, Olli Polo, Karin Stiasny‐Kolster, Wolfgang H. Oertel, Soňa Nevšímalová, Karel Šonka, Birgit Högl, Birgit Frauscher, Georgios M. Hadjigeorgiou, Peter P. Pramstaller, Peter Lichtner, Thomas Meitinger, Bertram Müller-Myshok, Juliane Winkelmann, Pasquale Montagna
I whakaputaina 2008Artigo -
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Replication of restless legs syndrome loci in three European populations mā 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
I whakaputaina 2009Artigo -
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Narcolepsy and pregnancy: a retrospective <scp>E</scp>uropean evaluation of 249 pregnancies mā Eszter Maurovich‐Horvat, David Kemlink, Birgit Högl, Birgit Frauscher, Laura Ehrmann, Peter Geisler, Katharina Ettenhuber, Geert Mayer, Rosa Peraita‐Adrados, Elena Calvo, Gert Jan Lammers, Astrid van der Heide, Luigi Ferini‐Strambi, Giuseppe Plazzi, Francesca Poli, Yves Dauvilliers, Poul Jennum, Helle Leonthin, Johannes Mathis, Aleksandra Wierzbicka, Francisco Javier Puertas, P. Beitinger, Isabelle Arnulf, Renata L. Riha, Mária Tormašiová, Jana Slonková, Soňa Nevšímalová, Karel Šonka
I whakaputaina 2013Artigo -
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Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients mā Eleni Panagiotakaki, Elisa De Grandis, Michela Stagnaro, Erin L. Heinzen, Carmen Fons, Sanjay M. Sisodiya, Boukje de Vries, Christophe Goubau, Sarah Weckhuysen, David Kemlink, Ingrid E. Scheffer, Gaëtan Lesca, Muriel Rabilloud, Amna Klich, Alia Ramírez-Camacho, Adriana Ulate-Campos, Jaume Campistol, Melania Giannotta, Marie‐Laure Moutard, Diane Doummar, Cecile Hubsch-Bonneaud, Fatima Jaffer, J. Helen Cross, Fiorella Gurrieri, Francesco Danilo Tiziano, Soňa Nevšímalová, Sophie Nicole, Brian Neville, Arn M. J. M. van den Maagdenberg, Mohamad A. Mikati, David B. Goldstein, Rosaria Vavassori, Alexis Arzimanoglou
I whakaputaina 2015Artigo -
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<i>GBA</i> variants in REM sleep behavior disorder mā Lynne Krohn, Jennifer A. Ruskey, Uladzislau Rudakou, Etienne Léveillé, Farnaz Asayesh, Joshua Shulman, Isabelle Arnulf, Yves Dauvilliers, Birgit Högl, Ambra Stefani, Christelle Charley-Monaca, Beatriz Abril, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini‐Strambi, Anna Heidbreder, Bradley F. Boeve, Alberto J. Espay, Valérie Cochen De Cock, Brit Mollenhauer, Friederike Sixel‐Döring, Claudia Trenkwalder, Karel Šonka, David Kemlink, Michela Figorilli, Monica Puligheddu, Femke Dijkstra, Mineke Viaene, Wolfgang H. Oertel, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Jean‐François Gagnon, Alex Désautels, Jacques Montplaisir, Ronald B. Postuma, Guy A. Rouleau, Ziv Gan‐Or
I whakaputaina 2020Artigo -
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Narcolepsy is strongly associated with the T-cell receptor alpha locus mā Joachim Hallmayer, Juliette Faraco, Ling Lin, Stephanie Hesselson, Juliane Winkelmann, Minae Kawashima, Geert Mayer, Giuseppe Plazzi, Soňa Nevšímalová, Patrice Bourgin, Seung‐Chul Hong, Yutaka Honda, Makoto Honda, Birgit Högl, W.T. Longstreth, Jacques Montplaisir, David Kemlink, Mali Einen, Justin Chen, Stacy L. Musone, Matthew Akana, Taku Miyagawa, Jubao Duan, Alex Désautels, Christine Erhardt, Per Egil Hesla, Francesca Poli, Birgit Frauscher, Jong‐Hyun Jeong, Sung-Pil Lee, Thanh G.N. Ton, Mark Kvale, Libor Kolesár, Marie Dobrovolná, Gerald T. Nepom, D. Salomon, H‐Erich Wichmann, Guy A. Rouleau, Christian Gieger, Douglas F. Levinson, Pablo V. Gejman, Thomas Meitinger, Terry Young, Paul E. Peppard, Katsushi Tokunaga, Pui‐Yan Kwok, Neil Risch, Emmanuel Mignot
I whakaputaina 2009Artigo -
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ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy mā Juliette Faraco, Ling Lin, Birgitte Rahbek Kornum, Eimear E. Kenny, Gosia Trynka, Mali Einen, Tom Rico, Peter Lichtner, Yves Dauvilliers, Isabelle Arnulf, Michel Lecendreux, Sirous Javidi, Peter Geisler, Geert Mayer, Fabio Pizza, Francesca Poli, Giuseppe Plazzi, Sebastiaan Overeem, Gert Jan Lammers, David Kemlink, Karel Šonka, Soňa Nevšímalová, Guy A. Rouleau, Alex Désautels, Jacques Montplaisir, Birgit Frauscher, Laura Ehrmann, Birgit Högl, Poul Jennum, Patrice Bourgin, Rosa Peraita‐Adrados, Àlex Iranzo, Claudio L. Bassetti, Wei‐Min Chen, Patrick Concannon, Susan D. Thompson, Vincent Damotte, Bertrand Fontaine, Maxime Bréban, Christian Gieger, Norman Klopp, Panos Deloukas, Cisca Wijmenga, Joachim Hallmayer, Suna Önengüt-Gümüşcü, Stephen S. Rich, Juliane Winkelmann, Emmanuel Mignot
I whakaputaina 2013Artigo -
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Fine‐Mapping of <i>SNCA</i> in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies mā Lynne Krohn, Richard Y. J. Wu, Karl Heilbron, Jennifer A. Ruskey, Sandra B. Laurent, Cornelis Blauwendraat, Armaghan Alam, Isabelle Arnulf, Joshua Shulman, Yves Dauvilliers, Birgit Högl, Mathias Toft, Kari Anne Bjørnarå, Ambra Stefani, Evi Holzknecht, Christelle Monaca, Beatriz Abril, Giuseppe Plazzi, Elena Antelmi, Luigi Ferini‐Strambi, Peter Young, Anna Heidbreder, Valérie Cochen De Cock, Brit Mollenhauer, Friederike Sixel‐Döring, Claudia Trenkwalder, Karel Šonka, David Kemlink, Michela Figorilli, Monica Puligheddu, Femke Dijkstra, Mineke Viaene, Wolfang Oertel, Marco Toffoli, Gian Luigi Gigli, Mariarosaria Valente, Jean‐François Gagnon, Mike A. Nalls, Andrew B. Singleton, Alex Désautels, Jacques Montplaisir, Paul J. Cannon, Owen A. Ross, Bradley F. Boeve, Nicolas Dupré, Edward A. Fon, Ronald B. Postuma, Lasse Pihlstrøm, Guy A. Rouleau, Ziv Gan‐Or
I whakaputaina 2020Artigo -
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Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1 mā 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
I whakaputaina 2011Artigo -
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Common variants in P2RY11 are associated with narcolepsy mā Birgitte Rahbek Kornum, Minae Kawashima, Juliette Faraco, Ling Lin, T. Rico, Stephanie Hesselson, Robert C. Axtell, Hedwich F. Kuipers, Karin Weiner, Alexandra Hamacher, Matthias U. Kassack, Fang Han, Stine Knudsen, Jing Li, Xiaosong Dong, Juliane Winkelmann, Giuseppe Plazzi, Soňa Nevšímalová, Seung‐Chul Hong, Yutaka Honda, Makoto Honda, Birgit Högl, Thanh G.N. Ton, Jacques Montplaisir, Patrice Bourgin, David Kemlink, Yu‐Shu Huang, Simon C. Warby, Mali Einen, Jasmin L Eshragh, Taku Miyagawa, Alex Désautels, Élisabeth Ruppert, Per Egil Hesla, Francesca Poli, Fabio Pizza, Birgit Frauscher, Jong‐Hyun Jeong, Sung-Pil Lee, Kingman P. Strohl, W.T. Longstreth, Mark Kvale, Marie Dobrovolná, Maurice M. Ohayon, Gerald T. Nepom, H‐Erich Wichmann, Guy A. Rouleau, Christian Gieger, Douglas F. Levinson, Pablo V. Gejman, Thomas Meitinger, Paul E. Peppard, Terry Young, Poul Jennum, Lawrence Steinman, Katsushi Tokunaga, Pui‐Yan Kwok, Neil Risch, Joachim Hallmayer, Emmanuel Mignot
I whakaputaina 2010Artigo -
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Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction mā 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
I whakaputaina 2024Revisão -
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood mā Erin L. Heinzen, Kathryn J. Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, Francesco Danilo Tiziano, Bertrand Fontaine, Sophie Nicole, Sinéad B. Heavin, Eleni Panagiotakaki, Sophie Nicole, Fiorella Gurrieri, Giovanni Neri, Boukje de Vries, Stephany C Koelewijn, Jessica T. Kamphorst, Marije A. Geilenkirchen, Nadine Pelzer, Laura Laan, Joost Haan, Michel D. Ferrari, Arn van den Maagdenberg, Claudio Zucca, Maria Teresa Bassi, F Franchini, Rosaria Vavassori, Melania Giannotta, Giuseppe Gobbi, Tiziana Granata, Nardo Nardocci, Elisa De Grandis, E. Veneselli, Michela Stagnaro, Fiorella Gurrieri, Giovanni Neri, Federico Vigevano, Eleni Panagiotakaki, Claudia Oechsler, Alexis Arzimanoglou, Sophie Nicole, Melania Giannotta, Giuseppe Gobbi, Miriam Ninan, Brian Neville, Friedrich Ebinger, Carmen Fons, Jaume Campistol, David Kemlink, Soňa Nevšímalová, Laura Laan, Cacha Peeters‐Scholte, Arn van den Maagdenberg, Paul Casaer, Giorgio Casari, Guenter Sange, Georg Spiel, Filippo Martinelli Boneschi, Claudio Zucca, Maria Teresa Bassi, Tsveta Schyns, Francis P. Crawley, Dominique Poncelin, Rosaria Vavassori, Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew Sweney, Tara Newcomb, Louis Viollet, Chad D. Huff, Lynn B. Jorde, Sandra P. Reyna, Kelley J. Murphy, Kevin V. Shianna, Curtis Gumbs, Latasha Little, Kenneth Silver, Louis J. Ptáček, Joost Haan, Michel D. Ferrari, Ann Bye, Geoffrey Herkes, Charlotte M Whitelaw, David Webb, Bryan J. Lynch, Peter Uldall, Mary D. King, Ingrid E. Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M. J. M. van den Maagdenberg, Sanjay M. Sisodiya, Mohamad A. Mikati, David B. Goldstein
I whakaputaina 2012Artigo -
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Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis mā 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
I whakaputaina 2017Revisão -
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Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects mā Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat, Regina H. Reynolds, Eric Yu, Konstantin Senkevich, Uladzislau Rudakou, Mehrdad A. Estiar, Emil K. Gustavsson, Kajsa Brolin, Jennifer A. Ruskey, Kathryn Freeman, Farnaz Asayesh, Ruth Chia, Isabelle Arnulf, Joshua Shulman, Jacques Montplaisir, Jean‐François Gagnon, Alex Désautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Andrea Bernardini, Birgit Högl, Ambra Stefani, Abubaker Ibrahim, Karel Šonka, David Kemlink, Wolfgang H. Oertel, Annette Janzen, Giuseppe Plazzi, Francesco Biscarini, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel‐Döring, Valérie Cochen De Cock, Christelle Monaca, Anna Heidbreder, Luigi Ferini‐Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Daniella Coker, Gabriel Cuéllar-Partida, Devika Dhamija, Sayantan Das, Sarah L. Elson, Teresa Filshtein, Kipper Fletez‐Brant, Pierre Fontanillas, Will Freyman, Pooja Gandhi, Barry Hicks, David A. Hinds, Ethan M. Jewett, Yunxuan Jiang, Katelyn Kukar, Keng‐Han Lin, Maya Lowe, Jey C. McCreight, Matthew H. McIntyre, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton, Alejandro Hernandez, Corinna Wong, Christophe Toukam Tchakouté, Sonja W. Scholz, Mina Ryten, Sara Bandrés‐Ciga, Alastair Noyce, Paul J. Cannon
I whakaputaina 2022Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Medicine
Genetics
Internal medicine
Neuroscience
Gene
Genotype
Neurology
Single-nucleotide polymorphism
Disease
Genome-wide association study
Bioinformatics
Locus (genetics)
Narcolepsy
Odds ratio
Phenotype
Restless legs syndrome
Allele
Computer science
Genetic association
Mutation
Operating system
Parkinson's disease
Psychiatry
Psychology
REM sleep behavior disorder
Sleep (system call)
Alpha-synuclein
Antigen
Candidate gene