1,022 results on '"Winkelmann, Juliane"'
Search Results
202. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels
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Oexle, Konrad, Ried, Janina S., Hicks, Andrew A., Tanaka, Toshiko, Hayward, Caroline, Bruegel, Mathias, Gögele, Martin, Lichtner, Peter, Müller-Myhsok, Bertram, Döring, Angela, Illig, Thomas, Schwienbacher, Christine, Minelli, Cosetta, Pichler, Irene, Fiedler, G. Martin, Thiery, Joachim, Rudan, Igor, Wright, Alan F., Campbell, Harry, Ferrucci, Luigi, Bandinelli, Stefania, Pramstaller, Peter P., Wichmann, H.-Erich, Gieger, Christian, Winkelmann, Juliane, and Meitinger, Thomas
- Published
- 2011
- Full Text
- View/download PDF
203. Myoclonus-Dystonia in 18p Deletion Syndrome
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Kowarik, Markus C., Langer, Sabine, Keri, Corinna, Hemmer, Bernhard, Oexle, Konrad, and Winkelmann, Juliane
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- 2011
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204. Time trends in the regional distribution of physicians, nurses and midwives in Europe
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Winkelmann, Juliane, primary, Muench, Ulrike, additional, and Maier, Claudia B., additional
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- 2020
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205. Candidate variants in TUB are associated with familial tremor
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Sailani, M. Reza, primary, Jahanbani, Fereshteh, additional, Abbott, Charles W., additional, Lee, Hayan, additional, Zia, Amin, additional, Rego, Shannon, additional, Winkelmann, Juliane, additional, Hopfner, Franziska, additional, Khan, Tahir N., additional, Katsanis, Nicholas, additional, Müller, Stefanie H., additional, Berg, Daniela, additional, Lyman, Katherine M., additional, Mychajliw, Christian, additional, Deuschl, Günther, additional, Bernstein, Jonathan A., additional, Kuhlenbäumer, Gregor, additional, and Snyder, Michael P., additional
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- 2020
- Full Text
- View/download PDF
206. Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
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Necpál, Ján, primary, Zech, Michael, additional, Valachová, Alica, additional, Sedláček, Zdeněk, additional, Bendová, Šárka, additional, Hančárová, Miroslava, additional, Okáľová, Katarína, additional, Winkelmann, Juliane, additional, and Jech, Robert, additional
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- 2020
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207. Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations
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Licata, Abigail, primary, Grimmer, Timo, additional, Winkelmann, Juliane, additional, Wagner, Matias, additional, Goldhardt, Oliver, additional, Riedl, Lina, additional, Roßmeier, Carola, additional, Yakushev, Igor, additional, and Diehl-Schmid, Janine, additional
- Published
- 2020
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- View/download PDF
208. Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease
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Hopfner, Franziska, primary, Mueller, Stefanie H., additional, Szymczak, Silke, additional, Junge, Olaf, additional, Tittmann, Lukas, additional, May, Sandra, additional, Lohmann, Katja, additional, Grallert, Harald, additional, Lieb, Wolfgang, additional, Strauch, Konstantin, additional, Müller‐Nurasyid, Martina, additional, Berger, Klaus, additional, Schormair, Barbara, additional, Winkelmann, Juliane, additional, Mollenhauer, Brit, additional, Trenkwalder, Claudia, additional, Maetzler, Walter, additional, Berg, Daniela, additional, Kasten, Meike, additional, Klein, Christine, additional, Höglinger, Günter U., additional, Gasser, Thomas, additional, Deuschl, Günther, additional, Franke, André, additional, Krawczak, Michael, additional, Dempfle, Astrid, additional, and Kuhlenbäumer, Gregor, additional
- Published
- 2020
- Full Text
- View/download PDF
209. Identification of Restless Legs Syndrome Genes by Mutational Load Analysis
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Tilch, Erik, primary, Schormair, Barbara, additional, Zhao, Chen, additional, Salminen, Aaro V., additional, Antic Nikolic, Ana, additional, Holzknecht, Evi, additional, Högl, Birgit, additional, Poewe, Werner, additional, Bachmann, Cornelius G., additional, Paulus, Walter, additional, Trenkwalder, Claudia, additional, Oertel, Wolfgang H., additional, Hornyak, Magdolna, additional, Fietze, Ingo, additional, Berger, Klaus, additional, Lichtner, Peter, additional, Gieger, Christian, additional, Peters, Annette, additional, Müller‐Myhsok, Bertram, additional, Hoischen, Alexander, additional, Winkelmann, Juliane, additional, and Oexle, Konrad, additional
- Published
- 2019
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210. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
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Khan, Kamal, primary, Zech, Michael, additional, Morgan, Angela T., additional, Amor, David J., additional, Skorvanek, Matej, additional, Khan, Tahir N., additional, Hildebrand, Michael S., additional, Jackson, Victoria E., additional, Scerri, Thomas S., additional, Coleman, Matthew, additional, Rigbye, Kristin A., additional, Scheffer, Ingrid E., additional, Bahlo, Melanie, additional, Wagner, Matias, additional, Lam, Daniel D., additional, Berutti, Riccardo, additional, Havránková, Petra, additional, Fečíková, Anna, additional, Strom, Tim M., additional, Han, Vladimir, additional, Dosekova, Petra, additional, Gdovinova, Zuzana, additional, Laccone, Franco, additional, Jameel, Muhammad, additional, Mooney, Marie R., additional, Baig, Shahid M., additional, Jech, Robert, additional, Davis, Erica E., additional, Katsanis, Nicholas, additional, and Winkelmann, Juliane, additional
- Published
- 2019
- Full Text
- View/download PDF
211. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study
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Mcnulty, Paul, Pilcher, Richard, Ramesh, Raviram, Necuiniate, Renata, Hughes, Alis, Farewell, Daniel, Holmans, Peter, Jones, Lesley, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Constant, Eric, Gillardin, Anne-Françoise, Léonard, Marie-Claude, Verellen-Dumoulin, Christine, Van De Wyngaerde, Françoise, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Boogaerts, Andrea, Vandenberghe, Wim, Van Reijen, Dimphna, Kaiserova, Michaela, Šenkárová, Zuzana, Klempíř, Jiří, Majerová, Veronika, Roth, Jan, Madsen, Louise Hasselstrøm, Møller, Anette Torvin, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Larsen, Ida Unmack, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Lolk, Annette, Lundsgaard, Marianne, Wermuth, Lene, Andersson, Christian, Nyberg, Clara, Sundblom, Jimmy, Peippo, Maarit, Sipponen, Marjett, Hartikainen, Paivi, Ollokainen, Mari, Åman, Jaana, Ignatius, Jaakko, Kärppä, Mikko, Mustonen, Aki, Kajula, Outi, Jääskalainen, Outi, Moilanen, Jukka, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, De Bruycker, Christelle, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Hélène, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexis, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Giséle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthias, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Musacchio, Thomas, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, DI Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, DI Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, DI Donato, Stefano, DI Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, DI Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, DI Giacopo, Raffaella, Fasano, Alfonso, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Piccininni, Chiara, Quaranta, Davide, Romano, Silvia, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Zinzi, Paola, Coarelli, Giulia, Ferraldeschi, Michela, Ristori, Giovanni, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloes, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Baake, Verena, Van Den Bogaard, Simon J. A., Bos, Reineke, Dumas, Eve M., Hart'T, Ellen P., Kampstra, Anne, Roos, Raymund A. C., Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Verstappen, Carla, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Heiberg, Arvid, Retterstøl, Lars, Røsby, Oddveig, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michal, Blaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Klodowska-Duda, Gabriela, Opala, Grzegorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Rudzińska, Monika, Stenwak, Agata, Szczudlik, Andrzej, Szczygiel, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Aniola, Jacek, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Wiśniewski, Bartlomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sulek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Almeida, Manuel, Calado, Ana, Dias, Margarida, Morgado, Joana, Semedo, Cristina, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J, Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Costa, Cristina, Cardoso, Helena, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Durán, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumá, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, Andrés, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, DÍaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Villa Riballo, Antonio, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Angeles, Maria, Gil, Acera, Corrales, Koldo Berganzo, Esteban, Juan Carlos Gomez, González, Amaia, Merino, Beatriz Tijero, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matías, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del Valle Loarte, María, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramos, Villanueva, Clara, Garde, Mónica Bascuñana, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, De Yébenes, Justo García, Moreno, José Luis López-Sendón, Barral, Verónica Mañanes, Cubillo, Patricia Trigo, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Alarcón, Moreau María Dolores, Almagro, Carmen Antúnez, Diéguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Ramirez, Inés Legarda, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Carrillo, Fátima, Redondo, María Teresa Cáceres, Mir, Pablo, González, Laura Vargas, Hermoso, Fátima Damas, Moreno, Jose Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Fernandez, Cristina Melgar, Lemos, María Dolores Romero, Mata, Maite Paredes, Casado, Rocío Villagrán, Bosca, Maria, Burguera, Juan Andres, Brugada, Francisco Castera, Vilaplana, Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Wahlström, Jan, Høsterey-Ugander, Ulrika, Fredlund, Gunnel, Constantinescu, Radu, Neleborn-Lingefjärd, Liselotte, Berglund, Maria, Berglund, Peter, Linnsand, Petra, Björnsson, Elisabeth, Paucar, Martin, Pålhagen, Sven, Svenningsson, Per, Wallden, Tina, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Esposito, Federica, Good, Jean-Marc, Paus, Karin, Vingerhoets, Francois, Wider, Christian, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Harrower, Timothy, Vernon, Nathan, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza Keylock, Jenny, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, DI Pietro, Anna Gerrtiz, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Fullam, Ruth, Hunt, Sarah, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Carrie, Ho, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Andrew, Alyson, Frost, Julie, Noad, Rupert, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Alusi, Sundus, Davies, Rhys, Foy, Kevin, Gerrans, Emily, Pate, Louise, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nicola, 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Katherine, Agarwal, Veena, Anderson, Mary, Gunner, Kerry, Harris, Kayla, Hayward, Elaine, Heywood, Melanie, Keys, Liane, MacKinnon, Lesley, Kipps, Christopher, Smalley, Sarah, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Gowers, Lesley, Phillips, Michelle, Powell, Kingsley, Biunno, Ida, Bronzova, Juliana, Giuliano, Joe, Handley, Olivia J., Illarioshkin, Sergey, Illmann, Torsten, Levey, Jamie, McLean, Tim, Koivisto, Susana Pro, Päivärinta, Markku, Uhrova, Tereza, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Charpentier, Sébastien, Da Silva, Wildson Vieira, DI Renzo, Martina, Finisterra, Ana Maria, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurá, Matilde, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Rindal, Beate, Røren, Niini, Šašinková, Pavla, Seliverstov, Yury, Timewell, Erika, Witjes-Ané, Marie-Noelle, Yudina, Elizaveta, Zielonka, Eugeniusz, Mcnulty, Paul, Hannequin, Didier, Diercks, Gabriele, Dressler, Dirk, Difruscolo, Olimpia, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., Van Den Bogaard, Simon J. A., Hart'T, Ellen P., Roos, Raymund A. C., Dias, Margarida, Diéguez, Esther, Mcfadyen, Paula, Mcgill, Marie, Mckenzie, Sue, Dipple, Heather, Mcentagart, Meriel, Mcdonnell, Sharon, Haig-Brown, Diane, Mackinnon, Lesley, and Mclean, Tim
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Adult ,Male ,Adolescent ,Huntington's disease ,cancer ,neurodegeneration ,trinucleotide repeat ,Cellular and Molecular Neuroscience ,Young Adult ,Neoplasms ,Trinucleotide repeat ,Humans ,Genetic Predisposition to Disease ,Prospective Studies ,Registries ,Age of Onset ,Neurodegeneration ,Child ,Aged ,Cancer ,Aged, 80 and over ,Huntingtin Protein ,Incidence ,Infant, Newborn ,Infant ,Middle Aged ,Europe ,Settore MED/26 - NEUROLOGIA ,Huntington Disease ,Huntington’s disease ,Child, Preschool ,Female ,Neurology (clinical) ,Trinucleotide Repeat Expansion - Abstract
Background: People with Huntington's disease (HD) have been observed to have lower rates of cancers. Objective: To investigate the relationship between age of onset of HD, CAG repeat length, and cancer diagnosis. Methods: Data were obtained from the European Huntington's disease network REGISTRY study for 6540 subjects. Population cancer incidence was ascertained from the GLOBOCAN database to obtain standardised incidence ratios of cancers in the REGISTRY subjects. Results: 173/6528 HD REGISTRY subjects had had a cancer diagnosis. The age-standardised incidence rate of all cancers in the REGISTRY HD population was 0.26 (CI 0.22-0.30). Individual cancers showed a lower age-standardised incidence rate compared with the control population with prostate and colorectal cancers showing the lowest rates. There was no effect of CAG length on the likelihood of cancer, but a cancer diagnosis within the last year was associated with a greatly increased rate of HD onset (Hazard Ratio 18.94, p < 0.001). Conclusions: Cancer is less common than expected in the HD population, confirming previous reports. However, this does not appear to be related to CAG length in HTT. A recent diagnosis of cancer increases the risk of HD onset at any age, likely due to increased investigation following a cancer diagnosis.
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- 2018
212. High-dose treatment with pergolide in Parkinson's disease patients with motor fluctuations and dyskinesias
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Storch, Alexander, Trenkwalder, Claudia, Oehlwein, Christian, Winkelmann, Juliane, Polzer, Ulrich, Hundemer, Hans-Peter, and Schwarz, Johannes
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- 2005
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213. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome
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Winkelmann, Juliane, Lichtner, Peter, Schormair, Barbara, Uhr, Manfred, Hauk, Stephanie, Stiasny-Kolster, Karin, Trenkwalder, Claudia, Paulus, Walter, Peglau, Ines, Eisensehr, Ilonka, Illig, Thomas, Wichmann, Erich H., Pfister, Hildegard, Golic, Jelena, Bettecken, Thomas, Pütz, Benno, Holsboer, Florian, Meitinger, Thomas, and Müller-Myhsok, Bertram
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- 2008
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214. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population
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Kemlink, David, Polo, Olli, Montagna, Pasquale, Provini, Federica, Stiasny-Kolster, Karin, Oertel, Wolfgang, de Weerd, Al, Nevsimalova, Sona, Sonka, Karel, Högl, Birgit, Frauscher, Birgit, Poewe, Werner, Trenkwalder, Claudia, Pramstaller, Peter P., Ferini-Strambi, Luigi, Zucconi, Marco, Konofal, Eric, Arnulf, Isabelle, Hadjigeorgiou, Georgios M., Happe, Svenja, Klein, Christine, Hiller, Anja, Lichtner, Peter, Meitinger, Thomas, Müller-Myshok, Betram, and Winkelmann, Juliane
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- 2007
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215. Clinical trials in restless legs syndrome—Recommendations of the European RLS Study Group (EURLSSG)
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Trenkwalder, Claudia, Kohnen, Ralf, Allen, Richard P., Beneš, Heike, Ferini-Strambi, Luigi, Garcia-Borreguero, Diego, Hadjigeorgiou, Georgios M., Happe, Svenja, Högl, Birgit, Hornyak, Magdolna, Klein, Christine, Nass, Alexander, Montagna, Pasquale, Oertel, Wolfgang H, OʼKeeffe, Shaun, Paulus, Walter, Poewe, Werner, Provini, Federica, Pramstaller, Peter P., Sieminski, Mariusz, Sonka, Karel, Stiasny-Kolster, Karin, de Weerd, Al, Wetter, Thomas C., Winkelmann, Juliane, and Zucconi, Marco
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- 2007
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216. Animal studies in restless legs syndrome
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Baier, Paul Christian, Ondo, William G., and Winkelmann, Juliane
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- 2007
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217. Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
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Winkelmann, Juliane, Polo, Oli, Provini, Federica, Nevsimalova, Sonja, Kemlink, David, Sonka, Karel, Högl, Birgit, Poewe, Werner, Stiasny-Kolster, Karin, Oertel, Wolfgang, de Weerd, Al, Strambi, Luigi Ferini, Zucconi, Marco, Pramstaller, Peter P., Arnulf, Isabelle, Trenkwalder, Claudia, Klein, Christine, Hadjigeorgiou, Georgios M., Happe, Svenja, Rye, David, and Montagna, Pasquale
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- 2007
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218. Augmentation as a treatment complication of restless legs syndrome: Concept and management
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García-Borreguero, Diego, Allen, Richard P., Benes, Heike, Earley, Christopher, Happe, Svenja, Högl, Birgit, Kohnen, Ralf, Paulus, Walter, Rye, David, and Winkelmann, Juliane
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- 2007
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219. Opposite microglial activation stages upon loss of PGRN or TREM 2 result in reduced cerebral glucose metabolism
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Götzl, Julia K, Brendel, Matthias, Werner, Georg, Parhizkar, Samira, Sebastian Monasor, Laura, Kleinberger, Gernot, Colombo, Alessio‐Vittorio, Deussing, Maximilian, Wagner, Matias, Winkelmann, Juliane, Diehl‐Schmid, Janine, Levin, Johannes, Fellerer, Katrin, Reifschneider, Anika, Bultmann, Sebastian, Bartenstein, Peter, Rominger, Axel, Tahirovic, Sabina, Smith, Scott T, Madore, Charlotte, Butovsky, Oleg, Capell, Anja, and Haass, Christian
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ddc - Published
- 2018
220. Evidence for Further Genetic Locus Heterogeneity and Confirmation of RLS-1 in Restless Legs Syndrome
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Winkelmann, Juliane, Lichtner, Peter, Pütz, Benno, Trenkwalder, Claudia, Hauk, Stephanie, Meitinger, Thomas, Strom, Tim, and Muller-Myhsok, Bertram
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- 2006
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221. Action myoclonus–renal failure syndrome: characterization of a unique cerebro-renal disorder
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Badhwar, AmanPreet, Berkovic, Samuel F., Dowling, John P., Gonzales, Michael, Narayanan, Sridar, Brodtmann, Amy, Berzen, Leon, Caviness, John, Trenkwalder, Claudia, Winkelmann, Juliane, Rivest, Jean, Lambert, Marie, Hernandez-Cossio, Otto, Carpenter, Stirling, Andermann, Frederick, and Andermann, Eva
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- 2004
222. Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia)
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Jochim, Angela, Li, Yong, Zech, Michael, Lam, Daniel, Gross, Nadine, Koch, Kathrin, Zimmer, Claus, Winkelmann, Juliane, and Haslinger, Bernhard
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- 2018
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223. A patient-enriched MEIS1coding variant causes a restless legs syndrome-like phenotype in mice
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Leu, Chia-Luen, Lam, Daniel D, Salminen, Aaro V, Wefers, Benedikt, Becker, Lore, Garrett, Lillian, Rozman, Jan, Wurst, Wolfgang, Hrabě de Angelis, Martin, Hölter, Sabine M, Winkelmann, Juliane, and Williams, Rhîannan H
- Abstract
Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable or unpleasant sensations in the legs during rest periods. To relieve these sensations, patients move their legs, causing sleep disruption. While the pathogenesis of RLS has yet to be resolved, there is a strong genetic association with the MEIS1gene. A missense variant in MEIS1is enriched sevenfold in people with RLS compared to non-affected individuals. We generated a mouse line carrying this mutation (p.Arg272His/c.815G>A), referred to herein as Meis1R272H/R272H(Meis1point mutation), to determine whether it would phenotypically resemble RLS. As women are more prone to RLS, driven partly by an increased risk of developing RLS during pregnancy, we focused on female homozygous mice. We evaluated RLS-related outcomes, particularly sensorimotor behavior and sleep, in young and aged mice. Compared to noncarrier littermates, homozygous mice displayed very few differences. Significant hyperactivity occurred before the lights-on (rest) period in aged female mice, reflecting the age-dependent incidence of RLS. Sensory experiments involving tactile feedback (rotarod, wheel running, and hotplate) were only marginally different. Overall, RLS-like phenomena were not recapitulated except for the increased wake activity prior to rest. This is likely due to the focus on young mice. Nevertheless, the Meis1R272Hmouse line is a potentially useful RLS model, carrying a clinically relevant variant and showing an age-dependent phenotype.Graphical Abstract
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- 2024
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224. Cognitive decline in Huntington's disease expansion gene carriers
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Baake, Verena, Reijntjes, Robert H. A. M., Dumas, Eve M., Thompson, Jennifer C., Roos, Raymund A. C., Bentivoglio, Anna-Rita, Biunno, Ida, Bronzova, Juliana, Dunnett, Stephen B., Frich, Jan, Giuliano, Joe, Illarioshkin, Sergey, Illmann, Torsten, Klempír, Jirí, Landwehrmeyer, G. Bernhard, Levey, Jamie, McLean, Tim, Nielsen, Jørgen E., Päivärinta, Markku, Pålhagen, Sven, Ramos-Arroyo, Maria, Tabrizi, Sarah J., Vandenberghe, Wim, Uhrova, Tereza, Bernard, Tomáš, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Wildson, Sébastien Charpentier, Da Silva, Vieira, Di Renzo, Martina, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Handley, Olivia J., Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Koivisto, Susana Pro, Rindal, Beate, Røren, Niini, Salgueiro, Ana, Šašinková, Pavla, Timewell, Erika, Van Walsem, Marleen R, Witjes-Ané, Marie-Noelle, Zielonka, Eugeniusz, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Markus, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klaus, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Verellen-Dumoulin, Christine, Majerová, Veronika, Roth, Jan, Hartikainen, Paivi, Ollokainen, Mari, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnès, Barthélémy, Recka, Bruycker, Christelle De, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicolas, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Helene, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Grosjean, Hélène, Guenam, Aicha, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexis, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-François, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johannes, Schlangen, Christiane, Werner, Cornelius J., Beuth, Markus, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthias, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharias, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christos, Goerendt, Ines, Heinicke, Walburgis, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lars, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthias, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Guidubaldi, Arianna, Ialongo, Tamara, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, Zinzi, Paola, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloes, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Van Den Bogaard, Simon J. A., Bos, Reineke, T Hart, Ellen P., Kampstra, Anne, Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Heiberg, Arvid, Retterstøl, Lars, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Konkel, Agnieszka, Narozańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Duda, Gabriela Kłodowska E., Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Bryl, Jacek Anioła Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Szejko, Natalia, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sułek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J., Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Loureiro, Rui, Moreira, Inês, Magalhães, Marina, Andrade, Carlos, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Duran, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, Andrés, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arribas, Guia, Dolors Badenes, Calzado, Noemi, Hernanz, Laura Casas, Díaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matías, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del ValleLoarte, María, Barrero, Francisco, Morales, Blas, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramos, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatás, Caldentey, Juan García, Ribas, Guillermo García, DeYebenes, Justo García, Moreno, José Luis Lópeze-Sendón, Barral, Verónica Mañanes, Cubillo, Patricia Trigo, Feliz, Cici Feliz, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puertas, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Del Val Fernandez, Javier, Alarcón, Moreau María Dolores, Almagro, Carmen Antúnez, Dieguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlos, Lozano, Pablo Sánchez, Gorospe, Aránzazu, Ramirez, Inés Legarda, Arques, Penelope Navas, Lopera, Monica Rodriguez, Pastor, Barbara Vives, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolores, Ramos-Arroyo, Maria Antonia, Hermoso, Fátima Damas, Moreno, José Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Luis, Sánchez, Violeta Sánchez, Bosca, Maria, Burguera, Juan Andres, Vilaplana, Francisco Castera Brugada Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Berglund, Maria, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Lewin, Kajsa, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wahlström, Jan, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Berglund, Måns, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Niemelä, Valter, Sundblom, Jimmy, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, Gerrtiz, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, McFadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, McGill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, McKenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, McEntagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Brown, Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thomas, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iris, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, McDonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Lois, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Majeed, Tahir, Verstraelen, Nicola, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Louis, Lau, Puay Ngoh, Pica, Emmanuel, Baake, Verena, Reijntjes, Robert H. A. M., Dumas, Eve M., Thompson, Jennifer C., Roos, Raymund A. C., Bentivoglio, Anna-Rita, Biunno, Ida, Bronzova, Juliana, Dunnett, Stephen B., Frich, Jan, Giuliano, Joe, Illarioshkin, Sergey, Illmann, Torsten, Klempír, Jirí, Landwehrmeyer, G. Bernhard, Levey, Jamie, Mclean, Tim, Nielsen, Jørgen E., Päivärinta, Markku, Pålhagen, Sven, Ramos-Arroyo, Maria, Tabrizi, Sarah J., Vandenberghe, Wim, Uhrova, Tereza, Bernard, Tomáš, Betz, Sabrina, Come, Adrien, Capodarca, Selene, Wildson, Sébastien Charpentier, Da Silva, Vieira, Di Renzo, Martina, Finisterra, Ana Maria, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Handley, Olivia J., Hvalstedt, Carina, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Descals, Asunción Martínez, Münkel, Kristina, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Koivisto, Susana Pro, Rindal, Beate, Røren, Niini, Salgueiro, Ana, Šašinková, Pavla, Timewell, Erika, Van Walsem, Marleen R, Witjes-Ané, Marie-Noelle, Zielonka, Eugeniusz, Bonelli, Raphael M., Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Lilek, Sabine, Magnet, Marku, Müller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schöggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Larcher, Barbara, Mahlknecht, Philipp, Müller, Christoph, Pinter, Bernadette, Poewe, Werner, Reiter, Eva-Magdalena, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Ladurner, Gunther, Lilek, Stefan, Sinadinosa, Daniela, Staffen, Wolfgang, Walleczek, Anna Maria, Dupuis, Michel, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Verellen-Dumoulin, Christine, Majerová, Veronika, Roth, Jan, Hartikainen, Paivi, Ollokainen, Mari, Santala, Maire, Eklund, Pia, Hiivola, Heli, Hyppönen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Couttier, Julien, Debilly, Bérengère, Delaigue, Christine, Durif, Franck, Legendre, Perrine, Loiseau, Sylvie, Ulla, Miguel, Vidal, Tiphaine, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boissé, Marie-Françoise, Boudali, Lotfi, De Langavant, Laurent Cleret, Lemoine, Laurie, Morgado, Graca, Youssov, Katia, Annic, Agnè, Barthélémy, Recka, Bruycker, Christelle De, Cabaret, Maryline, Carette, Anne-Sophie, Carrière, Nicola, Decorte, Eric, Defebvre, Luc, Delliaux, Marie, Delval, Arnaud, Depelchin, Alizé, Destee, Alain, Dewulf-Pasz, Nelly, Dondaine, Thibaut, Dugauquier, Florence, Dujardin, Kathy, Hopes, Lucie, Krystkowiak, Pierre, Lemaire, Marie-Helene, Manouvrier, Sylvie, Mutez, Eugénie, Peter, Mireille, Plomhause, Lucie, Sablonnière, Bernard, Simonin, Clémence, Tard, Céline, Thibault-Tanchou, Stéphanie, Vuillaume, Isabelle, Bellonet, Marcellin, Benoit, Alexandra, Berrisoul, Hassan, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Flament, Mélanie, Godefroy, Olivier, Mantaux, Béatrice, Playe, Alicia, Roussel, Martine, Tir, Mélissa, Schüler, Béatrice, Wannepain, Sandrine, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Grosjean, Hélène, Guenam, Aicha, Mundler, Laura, Nowak, Marielle, Raseta, Rolland, Benaich, Sandra, Brice, Alexi, Boster, Sarah, Charles, Perrine, Durr, Alexandra, Ewenczyk, Claire, Francisque, Hélène, Jauffret, Céline, Justo, Damian, Kassar, Abdulrahman, Klebe, Stephan, Lesne, Fabien, Milani, Paolo, Monin, Marie-Lorraine, Roze, Emmanuel, Tataru, Alina, Tchikviladzé, Maya, Bioux, Sandrine, Bliaux, Evangeline, Girard, Carole, Guyant-Maréchal, Lucie, Hannequin, Didier, Hannier, Véronique, Jourdain, Séverine, Maltête, David, Pouliquen, Dorothée, Anheim, Mathieu, Barun, Nadia, Lagha-Boukbiza, Ouhaid, Longato, Nadine, Marcel, Christophe, Phillipps, Clélie, Rudolf, Gabrielle, Steinmetz, Gisèle, Tranchant, Christine, Wagner, Caroline, Zimmermann, Marie-Agathe, Blondeau, Leily, Calvas, Fabienne, Cheriet, Samia, Delabaere, Helène, Demonet, Jean-Françoi, Pariente, Jérémie, Pierre, Michèle, Rolland, Sandrine, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Beuth, Marku, Gelderblom, Harald, Priller, Josef, Prüß, Harald, Spruth, Eike, Thiel, Silvia, Andrich, Jürgen, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kraus, Peter, Saft, Carsten, Stamm, Christiane, Lange, Herwig, Maiwald, Robert, Bosredon, Cecile, Hunger, Ulrike, Löhle, Matthia, Maass, Antonia, Ossig, Christiana, Schmidt, Simone, Storch, Alexander, Wolz, Annett, Wolz, Martin, Kohl, Zacharia, Kozay, Christina, Winkler, Jürgen, Bergmann, Ulrike, Böringer, Regina, Capetian, Philipp, Kammel, Gerit, Lambeck, Johann, Mächtel, Miriam, Meier, Simone, Rijntjes, Michel, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Möller, Carsten, Bürk, Katrin, Lüsebrink, Antje, Mühlau, Mark, Peinemann, Alexander, Städtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Barth, Katrin, Buck, Andrea, Connemann, Julia, Ecker, Daniel, Geitner, Carolin, Held, Christine, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Vogel, Melanie, Weydt, Patrick, Cormio, Claudia, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, De Tommaso, Marina, Calandra-Buonaura, Giovanna, Capellari, Sabina, Cortelli, Pietro, Gallassi, Roberto, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Bartoli, Caterina, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, Di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Marchese, Roberta, Di Maria, Emilio, Albanese, Alberto, Castagliuolo, Simona, Castaldo, Anna, Di Donato, Stefano, Di Bella, Daniela, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Monza, Daniela, Nanetti, Lorenzo, Panzeri, Marta, Paridi, Dominga, Soliveri, Paola, Spagnolo, Francesca, Taroni, Franco, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Esposito, Chiara, Martino, Tiziana, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Vezza, Maurizio, Squitieri, Ferdinando, D'Alessio, Barbara, Lovo, Francesca, Bentivoglio, Anna Rita, Bove, Francesco, Catalli, Claudio, Di Giacopo, Raffaella, Fasano, Alfonso, Guidubaldi, Arianna, Ialongo, Tamara, Loria, Giovanna, Modoni, Anna, Petracca, Martina, Piano, Carla, Chiara, Piccininni, Quaranta, Davide, Soleti, Francesco, Solito, Marcella, Spadaro, Maria, Torlizzi, Flavia, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, Zinzi, Paola, Van Hout, Monique S. E., Van Vugt, Jeroen P. P., De Weert, A. Marit, Verhoeven, Marloe, Dekker, Meike, Leenders, Nico, Van Oostrom, Joost, Klooster, Jesper, Kremer, Berry, Van Den Bogaard, Simon J. A., Bos, Reineke, T Hart, Ellen P., Kampstra, Anne, Schoonderbeek, Anne, Duits, Annelien, Oosterloo, Mayke, Waber, Mirella, Blinkenberg, Ellen Økland, Hauge, Erik, Tyvoll, Hilde, Aaserud, Olaf, Aanonsen, Nils Olaf, Bjørgo, Kathrine, Borgeød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan C., Gørvell, Per F., Haggag, Kathrine, Johannessen, Cecilie Haggag, Heiberg, Arvid, Retterstøl, Lar, Røsby, Oddveig, Rummel, Jutta, Sikiric, Alma, Stokke, Bodil, Van Walsem, Marleen, Wehus, Ragnhild, Bjørnevoll, Inga, Sando, Sigrid Botne, Haug, Marte Gjøl, Størseth, Hanna Haugan, Arntsen, Vibeke, Dziadkiewicz, Artur, Konkel, Agnieszka, Narozańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Duda, Gabriela Kłodowska E., Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elzbieta, Wójcik, Magdalena, Wasielewska, Anna, Bryl, Jacek Anioła Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Zielonka, Daniel, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Szejko, Natalia, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stȩpniak, Iwona, Sułek, Anna, Witkowski, Grzegorz, Zaremba, Jacek, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Guedes, Leonor Correia, Coelho, Miguel, Ferreira, Joaquim J., Mestre, Tiago, Mendes, Tiago, Valadas, Anabela, Cação, Gonçalo, Cavaco, Sara, Damásio, Joana, Fernandes, Joana, Loureiro, Rui, Moreira, Inê, Magalhães, Marina, Andrade, Carlo, Costa, Andreia, Garrett, Carolina, Gago, Miguel, Guimarães, Joana, Massano, João, Meireles, Joana, Monteiro, Ana, Herrera, Carmen Duran, Moreno, Patrocinio Garcia, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Classen, Serge Jaumà, Dedichá, Nadia Rodríguez, Buongiorno, María Teresa, De La Cerda Santa María, André, Muñoz, Esteban, Santacruz, Pilar, Barbera, Miquel Aguilar, Sebastián, Ana Rojo, Pardo, Sonia Arriba, Guia, Dolors Badene, Calzado, Noemi, Hernanz, Laura Casa, Díaz-Zorita, Juan Pablo Tartari, Catena, Judit López, Ferrer, Pilar Quiléz, Carruesco, Gemma Tome, Robert, Misericordia Floriach, Viladrich, Cèlia Mareca, Roca, Elvira, Idiago, Jesús Miguel Ruiz, Riballo, Antonio Villa, Campolongo, Antonia, De Bobadilla, Ramon Fernandez, Bojarsky, Jaime Kulisevsky, Martinez-Horta, Saul, Pagonabarraga, Javier, Perez, Jesus Perez, Ribosa, Roser, Villa, Carolina, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Romero, Sandra Gutierrez, Arbelo, José Matía, De Molina, Rocío Malo, Martín, Idaira, Periañez, Juan Manuel, Udaeta, Beatriz, Alonso-Frech, Fernando, Del ValleLoarte, María, Barrero, Francisco, Morales, Bla, Frades, Belén, Villanueva, Marina Ávila, Sevilla, Maria Ascension Zea, Frech, Fernando Alonso, Del Mar Fenollar, María, García, Rocío García-Ramo, Villanueva, Clara, Bascuñana, Mónica, Ventura, Marta Fatá, Caldentey, Juan García, Ribas, Guillermo García, Deyebenes, Justo García, Moreno, José Luis Lópeze-Sendón, Barral, Verónica Mañane, Cubillo, Patricia Trigo, Feliz, Cici Feliz, Ruíz, Pedro José García, García, Ana, López, Rosa Guerrero, Bárcenas, Antonio Herranz, Martínez-Descals, Asunción, Martin, Veronica Puerta, Martínez, Noelia Rodríguez, Artiga, María José Sainz, Sánchez, Vicenta, Pueyo, Angel Martínez, Del Val Fernandez, Javier, Alarcón, Moreau María Dolore, Almagro, Carmen Antúnez, Dieguez, Esther, Fortuna, Lorenza, Manzanares, Salvadora, Muñoz, Juan Marín, Torres, María Martirio Antequera, Perea, Fuensanta Noguera, Vivancos, Laura, González, Sonia, Guisasola, Luis Menéndez, Prieto, Marta Para, Ribacoba, René, Salvador, Carlo, Lozano, Pablo Sánchez, Gorospe, Aránzazu, Ramirez, Inés Legarda, Arques, Penelope Nava, Lopera, Monica Rodriguez, Pastor, Barbara Vive, Gaston, Itziar, Garcia-Amigot, Fermin, Martinez-Jaurrieta, Maria Dolore, Ramos-Arroyo, Maria Antonia, Hermoso, Fátima Dama, Moreno, José Manuel García, Lucena, Carolina Mendez, Cortegana, Eva María Pacheco, Peña, José Chacón, Redondo, Lui, Sánchez, Violeta Sánchez, Bosca, Maria, Burguera, Juan Andre, Vilaplana, Francisco Castera Brugada Carmen Peiró, Solís, Pilar, Figuerola, Begoña Jeweinat, Palanca, Paloma Millan, Berglund, Maria, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Lewin, Kajsa, Linnsand, Petra, Neleborn-Lingefjärd, Liselotte, Wahlström, Jan, Petersén, Åsa, Reimer, Jan, Widner, Håkan, Berglund, Mån, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikström, Birgitta, Ekwall, Camilla, Göller, Marie-Lousie, Niemelä, Valter, Sundblom, Jimmy, Burgunder, Jean-Marc, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Zaugg, Sabine Weber, Jung, Hans H., Petersen, Jens A., Ligon-Auer, Maria, Mihaylova, Violeta, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A., Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, De Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Wright, Abigail, Barker, Roger A., O'Keefe, Deidre, Gerrtiz, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Mason, Sarah, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Minster, Sara, Owen, Michael, Price, Kathleen, Townhill, Jenny, Rosser, Anne, Goudie, David, Buchanan, Lindsay, Mcfadyen, Paula, Tonner, Alison, Taylor, Anne-Marie, Edwards, Maureen, Ho, Carrie, Mcgill, Marie, Porteous, Mary, Pearson, Pauline, Harrower, Timothy, Irvine, Sarah, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Deith, Catherine, Ireland, Jane, Ritchie, Stuart, Brown, Pauline, Burrows, Liz, Fletcher, Amy, Harding, Alison, Laver, Fiona, Silva, Mark, Thomson, Aileen, Chu, Carol, Evans, Carole, Gallentree, Deena, Hamer, Stephanie, Kraus, Alison, Markova, Ivana, Raman, Ashok, Cosgrove, Jeremy, Gallantree, Deena, Hobson, Emma, Jamieson, Stuart, Longthorpe, Mandy, Musgrave, Hannah, Peacy, Caroline, Rowett, Liz, Toscano, Jean, Wild, Sue, Yardumian, Pam, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Hallam, Caroline, Middleton, Julia, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Brown, Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Callaghan, Jenny, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, Knight, Caroline, O'Neill, Mari, Das Purkayastha, Debasish, Nemeth, Andrea H., Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, Donovan, John O., Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Majeed, Tahir, Verstraelen, Nicola, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Peppa, Nadia, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Tan, Loui, Lau, Puay Ngoh, and Pica, Emmanuel
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0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Heterozygote ,Cognitive Neuroscience ,Experimental and Cognitive Psychology ,Disease ,Huntington's disease ,Cognition ,Longitudinal ,REGISTRY ,Neuropsychological Tests ,Cognitive neuroscience ,Audiology ,Developmental psychology ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,Cognitive Dysfunction ,Effects of sleep deprivation on cognitive performance ,Cognitive decline ,Aged ,Middle Aged ,medicine.disease ,Settore MED/26 - NEUROLOGIA ,030104 developmental biology ,Huntington Disease ,Neuropsychology and Physiological Psychology ,cognition ,huntington's disease ,longitudinal ,registry ,neuropsychology and physiological psychology ,experimental and cognitive psychology ,cognitive neuroscience ,Disease Progression ,Female ,Neuropsychological Test ,Psychology ,Trinucleotide repeat expansion ,Trinucleotide Repeat Expansion ,030217 neurology & neurosurgery ,Stroop effect ,Human - Abstract
Background: In Huntington's Disease (HD) cognitive decline can occur before unequivocal motor signs become apparent. As cognitive decline often starts early in the course of the disease and has a progressive nature over time, cognition can be regarded as a key target for symptomatic treatment. The specific progressive profile of cognitive decline over time is unknown.Objective: The aim of this study is to quantify the progression of cognitive decline across all HD stages, from pre-motormanifest to advanced HD, and to investigate if CAG length mediates cognitive decline.Methods: In the European REGISTRY study 2669 HD expansion gene carriers underwent annual cognitive assessment. General linear mixed models were used to model the cognitive decline for each cognitive task across all disease stages. Additionally, a model was developed to evaluate the cognitive decline based on CAG length and age rather than disease stage.Results: There was significant cognitive decline on all administered tasks throughout pre-motormanifest (close to estimated disease onset) participants and the subsequent motormanifest participants from stage 1 to stage 4. Performance on the Stroop Word and Stroop Color tests additionally declined significantly across the two pre-motormanifest groups: far and close to estimated disease onset.The evaluation of cognition performance in relation to CAG length and age revealed a more rapid cognitive decline in participants with longer CAG length than participants with shorter CAG length over time.Conclusion: Cognitive performance already shows decline in pre-motormanifest HD gene expansion carriers and gradually worsens to late stage HD. HD gene expansion carriers with certain CAG length have their own cognitive profile, i.e., longer CAG length is associated with more rapid decline.
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- 2017
225. Increased Growth Hormone Response to Apomorphine in Parkinson Disease Compared With Multiple System Atrophy
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Friess, Elisabeth, Kuempfel, Tania, Winkelmann, Juliane, Schmid, Dagmar, Uhr, Manfred, Rupprecht, Rainer, Holsboer, Florian, and Trenkwalder, Claudia
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- 2001
226. Restless Legs Syndrome
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Winkelmann, Juliane
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- 1999
227. Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases
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Arnold Matthias, Hartsperger Mara L, Baurecht Hansjörg, Rodríguez Elke, Wachinger Benedikt, Franke Andre, Kabesch Michael, Winkelmann Juliane, Pfeufer Arne, Romanos Marcel, Illig Thomas, Mewes Hans-Werner, Stümpflen Volker, and Weidinger Stephan
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Genome-wide association study ,Genetic overlap ,Shared variant network ,Disease comorbidity ,Biotechnology ,TP248.13-248.65 ,Genetics ,QH426-470 - Abstract
Abstract Background Genome-wide association studies (GWAS) have provided a large set of genetic loci influencing the risk for many common diseases. Association studies typically analyze one specific trait in single populations in an isolated fashion without taking into account the potential phenotypic and genetic correlation between traits. However, GWA data can be efficiently used to identify overlapping loci with analogous or contrasting effects on different diseases. Results Here, we describe a new approach to systematically prioritize and interpret available GWA data. We focus on the analysis of joint and disjoint genetic determinants across diseases. Using network analysis, we show that variant-based approaches are superior to locus-based analyses. In addition, we provide a prioritization of disease loci based on network properties and discuss the roles of hub loci across several diseases. We demonstrate that, in general, agonistic associations appear to reflect current disease classifications, and present the potential use of effect sizes in refining and revising these agonistic signals. We further identify potential branching points in disease etiologies based on antagonistic variants and describe plausible small-scale models of the underlying molecular switches. Conclusions The observation that a surprisingly high fraction (>15%) of the SNPs considered in our study are associated both agonistically and antagonistically with related as well as unrelated disorders indicates that the molecular mechanisms influencing causes and progress of human diseases are in part interrelated. Genetic overlaps between two diseases also suggest the importance of the affected entities in the specific pathogenic pathways and should be investigated further.
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- 2012
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228. Opposite microglial activation stages upon loss of PGRN or TREM 2 result in reduced cerebral glucose metabolism
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Götzl, Julia K, primary, Brendel, Matthias, additional, Werner, Georg, additional, Parhizkar, Samira, additional, Sebastian Monasor, Laura, additional, Kleinberger, Gernot, additional, Colombo, Alessio‐Vittorio, additional, Deussing, Maximilian, additional, Wagner, Matias, additional, Winkelmann, Juliane, additional, Diehl‐Schmid, Janine, additional, Levin, Johannes, additional, Fellerer, Katrin, additional, Reifschneider, Anika, additional, Bultmann, Sebastian, additional, Bartenstein, Peter, additional, Rominger, Axel, additional, Tahirovic, Sabina, additional, Smith, Scott T, additional, Madore, Charlotte, additional, Butovsky, Oleg, additional, Capell, Anja, additional, and Haass, Christian, additional
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- 2019
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229. Genetik in Neurologie und Psychiatrie
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Rietschel, Marcella, primary and Winkelmann, Juliane, additional
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- 2019
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230. Exomdiagnostik in der Neurologie
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Zech, Michael, primary, Wagner, Matias, additional, Schormair, Barbara, additional, Oexle, Konrad, additional, and Winkelmann, Juliane, additional
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- 2019
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231. Reply to: Safety of dopamine agonists for treating restless legs syndrome
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Salminen, Aaro V., primary, Allen, Richard P., additional, Högl, Birgit, additional, Inoue, Yuichi, additional, Oertel, Wolfgang, additional, Winkelman, John W., additional, Trenkwalder, Claudia, additional, Sampaio, Cristina, additional, and Winkelmann, Juliane, additional
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- 2019
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232. Reply to: A note on rotigotine for restless legs syndrome after renal transplantation
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Salminen, Aaro V., primary, Allen, Richard P., additional, Högl, Birgit, additional, Inoue, Yuichi, additional, Oertel, Wolfgang, additional, Winkelman, John W., additional, Trenkwalder, Claudia, additional, Sampaio, Cristina, additional, and Winkelmann, Juliane, additional
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- 2019
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233. Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features
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Hopfner Franziska, Schormair Barbara, Knauf Franziska, Berthele Achim, Tölle Thomas R, Baron Ralf, Maier Christoph, Treede Rolf-Detlef, Binder Andreas, Sommer Claudia, Maihöfner Christian, Kunz Wolfram, Zimprich Friedrich, Heemann Uwe, Pfeufer Arne, Näbauer Michael, Kääb Stefan, Nowak Barbara, Gieger Christian, Lichtner Peter, Trenkwalder Claudia, Oexle Konrad, and Winkelmann Juliane
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Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Abstract Background Action myoclonus-renal failure syndrome is a hereditary form of progressive myoclonus epilepsy associated with renal failure. It is considered to be an autosomal-recessive disease related to loss-of-function mutations in SCARB2. We studied a German AMRF family, additionally showing signs of demyelinating polyneuropathy and dilated cardiomyopathy. To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features. Methods In the AMRF family all exons of SCARB2 were analyzed by Sanger sequencing. The mutation screening of unrelated patients with isolated AMRF features affected by either epilepsy (n = 103, progressive myoclonus epilepsy or generalized epilepsy), demyelinating polyneuropathy (n = 103), renal failure (n = 192) or dilated cardiomyopathy (n = 85) was performed as high resolution melting curve analysis of the SCARB2 exons. Results A novel homozygous 1 bp deletion (c.111delC) in SCARB2 was found by sequencing three affected homozygous siblings of the affected family. A heterozygous sister showed generalized seizures and reduction of nerve conduction velocity in her legs. No mutations were found in the epilepsy, renal failure or dilated cardiomyopathy samples. In the polyneuropathy sample two individuals with demyelinating disease were found to be carriers of a SCARB2 frameshift mutation (c.666delCCTTA). Conclusions Our findings indicate that demyelinating polyneuropathy and dilated cardiomyopathy are part of the action myoclonus-renal failure syndrome. Moreover, they raise the possibility that in rare cases heterozygous SCARB2 mutations may be associated with PNP features.
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- 2011
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234. Nachhaltige Entwicklung in Afrika
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Winkelmann, Juliane, Molls, Michael, and Conceição-Heldt, Eugénia da
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ddc - Abstract
AFRIKA ist reich an Chancen: z.B. Bodenschätze, landwirtschaftliche Nutzflächen, Energiewirtschaft, das große Potential vieler junger, kreativer Menschen. Dennoch ist es auch der ärmste Kontinent. Afrika mit seinen vielfältigen Kulturen und mit seiner großen Heterogenität steht mitten in gewaltigen Umwälzungen. Neue Konstellationen schaffen Unsicherheiten und Probleme, gleichzeitig aber auch vielfältige Perspektiven für den Fortschritt. Afrika und Europa brauchen beidseits faire politische und wirtschaftliche Kooperationen. Technologie- und Bildungsinitiativen, bei denen Afrikanerinnen und Afrikaner die Hauptakteure der Gestaltung ihres Kontinents sind, verbinden Afrika und die TUM.
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- 2017
235. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis
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Schormair, Barbara, Zhao, Chen, Bell, Steven, Tilch, Erik, Salminen, Aaro V, Pütz, Benno, Dauvilliers, Yves, Stefani, Ambra, Högl, Birgit, Poewe, Werner, Kemlink, David, Sonka, Karel, Bachmann, Cornelius G, Paulus, Walter, Trenkwalder, Claudia, Oertel, Wolfgang H, Hornyak, Magdolna, Teder-Laving, Maris, Metspalu, Andres, Hadjigeorgiou, Georgios M, Polo, Olli, Fietze, Ingo, Ross, Owen A, Wszolek, Zbigniew, Butterworth, Adam S, Soranzo, Nicole, Ouwehand, Willem H, Roberts, David J, Danesh, John, Allen, Richard P, Earley, Christopher J, Ondo, William G, Xiong, Lan, Montplaisir, Jacques, Gan-Or, Ziv, Perola, Markus, Vodicka, Pavel, Dina, Christian, Franke, Andre, Tittmann, Lukas, Stewart, Alexandre F R, Shah, Svati H, Gieger, Christian, Peters, Annette, Rouleau, Guy A, Berger, Klaus, Oexle, Konrad, Di Angelantonio, Emanuele, Hinds, David A, Müller-Myhsok, Bertram, Winkelmann, Juliane, Balkau, B, Ducimetière, P, Eschwège, E, Rancière, F, Alhenc-Gelas, F, Gallois, Y, Girault, A, Fumeron, F, Marre, M, Roussel, R, Bonnet, F, Bonnefond, A, Cauchi, S, Froguel, P, Cogneau, J, Born, C, Caces, E, Cailleau, M, Lantieri, O, Moreau, JG, Rakotozafy, F, Tichet, J, Vol, S, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K, Bryc, Katarzyna, Elson, Sarah L, Fontanillas, Pierre, Furlotte, Nicholas A, Hromatka, Bethann S, Huber, Karen E, Kleinman, Aaron, Litterman, Nadia K, McIntyre, Matthew H, Mountain, Joanna L, Northover, Carrie AM, Pitts, Steven J, Sathirapongsasuti, J Fah, Sazonova, Olga V, Shelton, Janie F, Shringarpure, Suyash, Tian, Chao, Tung, Joyce Y, Vacic, Vladimir, and Wilson, Catherine H
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Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. Methods In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10−8) were tested for replication in an independent GWAS of 30 770 cases and 286 913 controls, followed by a joint analysis of the discovery and replication stages. We did gene annotation, pathway, and gene-set-enrichment analyses and studied the genetic correlations between restless legs syndrome and traits of interest. Findings We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85–1·99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Interpretation Identification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations.
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- 2017
236. Restless Legs Syndrome and Other Movement Disorders of Sleep—Treatment Update
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Salminen, Aaro V., primary and Winkelmann, Juliane, additional
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- 2018
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237. Comorbidities, treatment, and pathophysiology in restless legs syndrome
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Trenkwalder, Claudia, primary, Allen, Richard, additional, Högl, Birgit, additional, Clemens, Stefan, additional, Patton, Stephanie, additional, Schormair, Barbara, additional, and Winkelmann, Juliane, additional
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- 2018
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238. KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes
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Barbagiovanni, Giulia, primary, Germain, Pierre-Luc, additional, Zech, Michael, additional, Atashpaz, Sina, additional, Lo Riso, Pietro, additional, D’Antonio-Chronowska, Agnieszka, additional, Tenderini, Erika, additional, Caiazzo, Massimiliano, additional, Boesch, Sylvia, additional, Jech, Robert, additional, Haslinger, Bernhard, additional, Broccoli, Vania, additional, Stewart, Adrian Francis, additional, Winkelmann, Juliane, additional, and Testa, Giuseppe, additional
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- 2018
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239. FV 1031. Whole Exome Sequencing for Children with Dyskinetic Movement Disorder
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Dincer, Yasemin, additional, Zech, Michael, additional, Wagner, Matias, additional, Jung, Nikolai, additional, Mall, Volker, additional, and Winkelmann, Juliane, additional
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- 2018
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240. Pergolide restores sleep maintenance but impairs sleep EEG synchronization in patients with restless legs syndrome
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Tagaya, Hirokuni, Wetter, Thomas C, Winkelmann, Juliane, Rubin, Marina, Hundemer, Hans-Peter, Trenkwalder, Claudia, and Friess, Elisabeth
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- 2002
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241. Sleep and periodic limb movements in corticobasal degeneration
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Wetter, Thomas C, Brunner, Hans, Collado-Seidel, Victor, Trenkwalder, Claudia, and Winkelmann, Juliane
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- 2002
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242. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis
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Goyette, Philippe, Boucher, Gabrielle, Mallon, Dermot, Ellinghaus, Eva, Jostins, Luke, Huang, Hailiang, Ripke, Stephan, Gusareva, Elena S., Annese, Vito, Hauser, Stephen L., Oksenberg, Jorge R., Thomsen, Ingo, Leslie, Stephen, Daly, Mark J., Van Steen, Kristel, Duerr, Richard H., Barrett, Jeffrey C., Mcgovern, Dermot P. B., Schumm, L. Philip, Traherne, James A., Carrington, Mary N., Kosmoliaptsis, Vasilis, Karlsen, Tom H., Franke, Andre, Rioux, John D., Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Balschun, Tobias, Bampton, Peter A., Barclay, Murray, Bayless, Theodore M., Bethge, Johannes, Bis, Joshua C., Bitton, Alain, Brand, Stephan, Brant, Steven R., Buning, Carsten, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Croft, Anthony, D'Amato, Mauro, Danese, Silvio, De Jong, Dirk, De Vos, Martine, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jurgen, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Xinli, Hu, Hui, Ken Y., Imielinski, Marcin, Ippoliti, Andrew, Jonaitis, Laimas, Kennedy, Nicholas A., Khan, Mohammed Azam, Kiudelis, Gediminas, Kugathasan, Subra, Kupcinskas, Limas, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Mahy, Gillian, Mansfield, John, Massey, Dunecan, Mathew, Christopher G., Milgrom, Raquel, Mitrovic, Mitja, Montgomery, Grant, Mowat, Craig, Newman, Wwilliam, Aylwin, Ng, Siew C., Ng, Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nothen, Markus, Oikonomou, Ioannis, Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Proctor, Deborah D., Radford Smith, Graham, Rahier, Jean Francois, Raychaudhur, Soumya, Regueiro, Miguel, Rieder, Florian, Roberts, Rebecca, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Schreiber, Stefan, Scott, Regan, Seielstad, Mark, Sharma, Yashoda, Silverberg, Mark S., Simms, Lisa A., Skieceviciene, Jurgita, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kirstin M., Ter Velde, Anje, Theatre, Emilie, Torkvist, Leif, Tremelling, Mark, Van Der Meulen, Andrea, Van Sommeren, Suzanne, Vasiliauskas, Eric, Vermeire, Severine, Verspaget, Hein W., Walters, Thomas, Wwang, Kai, Wwang, Ming Hsi, Wweersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wwei, Zhao, Hongyu, Zhao, Zhen Z., Gastroenterology and Hepatology, Traherne, James [0000-0002-6003-8559], Kosmoliaptsis, Vasilis [0000-0001-7298-1387], and Apollo - University of Cambridge Repository
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Heterozygote ,Genotype ,Genotyping Techniques ,Genetic Linkage ,Ulcerative ,Human leukocyte antigen ,Biology ,Major histocompatibility complex ,Polymorphism, Single Nucleotide ,Article ,Primary sclerosing cholangitis ,Major Histocompatibility Complex ,Alleles ,Chromosome Mapping ,Colitis, Ulcerative ,Crohn Disease ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,HLA-DRB1 Chains ,Humans ,Inflammatory Bowel Diseases ,Phenotype ,Genetics ,medicine ,HLA-DR ,Polymorphism ,Colitis ,HLA-DRB1 ,Crohn's disease ,Single Nucleotide ,medicine.disease ,Ulcerative colitis ,digestive system diseases ,Immunology ,biology.protein - Abstract
Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.
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- 2015
243. Plasma Proteomics of Renal Function: A Transethnic Meta-Analysis and Mendelian Randomization Study
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Matías-García, Pamela R., Wilson, Rory, Guo, Qi, Zaghlool, Shaza B., Eales, James M., Xu, Xiaoguang, Charchar, Fadi J., Dormer, John, Maalmi, Haifa, Schlosser, Pascal, Elhadad, Mohamed A., Nano, Jana, Sharma, Sapna, Peters, Annette, Fornoni, Alessia, Mook-Kanamori, Dennis O., Winkelmann, Juliane, Danesh, John, Di Angelantonio, Emanuele, Ouwehand, Willem H., Watkins, Nicholas A., Roberts, David J., Petrera, Agnese, Graumann, Johannes, Koenig, Wolfgang, Hveem, Kristian, Jonasson, Christian, Köttgen, Anna, Butterworth, Adam, Prunotto, Marco, Hauck, Stefanie M., Herder, Christian, Suhre, Karsten, Gieger, Christian, Tomaszewski, Maciej, Teumer, Alexander, and Waldenberger, Melanie
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- 2021
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244. Pathogenic SPTBN1variants cause an autosomal dominant neurodevelopmental syndrome
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Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., and Lorenzo, Damaris N.
- Abstract
SPTBN1encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavioral deficiencies. These phenotypes, while less severe, are observed in haploinsufficient animals, suggesting that individuals carrying heterozygous SPTBN1variants may also show measurable compromise of neural development and function. Here we identify heterozygous SPTBN1variants in 29 individuals with developmental, language and motor delays; mild to severe intellectual disability; autistic features; seizures; behavioral and movement abnormalities; hypotonia; and variable dysmorphic facial features. We show that these SPTBN1variants lead to effects that affect βII-spectrin stability, disrupt binding to key molecular partners, and disturb cytoskeleton organization and dynamics. Our studies define SPTBN1variants as the genetic basis of a neurodevelopmental syndrome, expand the set of spectrinopathies affecting the brain and underscore the critical role of βII-spectrin in the central nervous system.
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- 2021
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245. A TRAPPC6B splicing variant associates to restless legs syndrome
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Aridon, Paolo, De Fusco, Maurizio, Winkelmann, Juliane W., Zucconi, Marco, Arnao, Valentina, Ferini-Strambi, Luigi, and Casari, Giorgio
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- 2016
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246. Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls
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Zech, Michael, Jochim, Angela, Boesch, Sylvia, Weber, Sandrina, Meindl, Tobias, Peters, Annette, Gieger, Christian, Mueller, Joerg, Messner, Michael, Ceballos-Baumann, Andres, Poewe, Werner, Haslinger, Bernhard, and Winkelmann, Juliane
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- 2016
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247. Meis1: effects on motor phenotypes and the sensorimotor system in mice
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Salminen, Aaro V, Garrett, Lillian, Klingenspor, Martin, Klopstock, Thomas, Wolf, Eckhard, Zimmer, Andreas, Gailus-Durner, Valérie, Torres, Miguel, Fuchs, Helmut, Hrabě de Angelis, Martin, Wurst, Wolfgang, Hölter, Sabine M, Schormair, Barbara, Winkelmann, Juliane, Rozman, Jan, Giesert, Florian, Niedermeier, Kristina M, Becker, Lore, Rathkolb, Birgit, Rácz, Ildikó, Consortium, German Mouse Clinic, Emil Aaltosen Säätiö (Finlandia), Unión Europea. Comisión Europea, Federal Ministry of Education & Research (Alemania), and Deutsche Forschungsgemeinschaft (Alemania)
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0301 basic medicine ,Male ,drug effects [Sensory Gating] ,RESTLESS LEGS SYNDROME ,Medicine (miscellaneous) ,lcsh:Medicine ,drug effects [Neurogenesis] ,Receptors, Dopamine ,EXPRESSION LEVELS ,0302 clinical medicine ,Pramipexole ,Immunology and Microbiology (miscellaneous) ,drug effects [Behavior, Animal] ,Restless legs syndrome ,blood [Ferritins] ,Myeloid Ecotropic Viral Integration Site 1 Protein ,Prepulse inhibition ,RISK ,Sex Characteristics ,drug effects [Prepulse Inhibition] ,Neurogenesis ,Dopaminergic ,metabolism [Dopaminergic Neurons] ,deficiency [Myeloid Ecotropic Viral Integration Site 1 Protein] ,Temperature ,Transferrin ,pharmacology [Dopamine Agonists] ,Phenotype ,Dopamine Agonists ,Female ,Haploinsufficiency ,HOMEOPROTEINS ,Research Article ,medicine.drug ,lcsh:RB1-214 ,Agonist ,medicine.medical_specialty ,GENES ,medicine.drug_class ,Iron ,PATHOPHYSIOLOGY ,Neuroscience (miscellaneous) ,Biology ,PREPULSE INHIBITION ,General Biochemistry, Genetics and Molecular Biology ,Mouse model ,NEUROGENESIS ,03 medical and health sciences ,metabolism [Sensorimotor Cortex] ,Internal medicine ,ddc:570 ,mental disorders ,genetics [Haploinsufficiency] ,medicine ,lcsh:Pathology ,Animals ,metabolism [Aging] ,GENOME-WIDE ASSOCIATION ,drug effects [Nociception] ,Sensorimotor system ,drug effects [Motor Activity] ,lcsh:R ,Meis1 ,Mouse Model ,Prepulse Inhibition ,Restless Legs Syndrome ,Sensorimotor System ,metabolism [Myeloid Ecotropic Viral Integration Site 1 Protein] ,medicine.disease ,metabolism [Receptors, Dopamine] ,SLEEP ,Olfactory bulb ,Mice, Inbred C57BL ,030104 developmental biology ,Endocrinology ,metabolism [Transferrin] ,Ferritins ,drug effects [Sensorimotor Cortex] ,blood [Iron] ,pathology [Sensorimotor Cortex] ,030217 neurology & neurosurgery ,Meis1 protein, mouse - Abstract
MEIS1 encodes a developmental transcription factor and has been linked to restless legs syndrome (RLS) in genome-wide association studies. RLS is a movement disorder leading to severe sleep reduction and has a substantial impact on the quality of life of patients. In genome-wide association studies, MEIS1 has consistently been the gene with the highest effect size and functional studies suggest a disease-relevant downregulation. Therefore, haploinsufficiency of Meis1 could be the system with the most potential for modeling RLS in animals. We used heterozygous Meis1-knockout mice to study the effects of Meis1 haploinsufficiency on mouse behavioral and neurological phenotypes, and to relate the findings to human RLS. We exposed the Meis1-deficient mice to assays of motor, sensorimotor and cognitive ability, and assessed the effect of a dopaminergic receptor 2/3 agonist commonly used in the treatment of RLS. The mutant mice showed a pattern of circadian hyperactivity, which is compatible with human RLS. Moreover, we discovered a replicable prepulse inhibition (PPI) deficit in the Meis1-deficient animals. In addition, these mice were hyposensitive to the PPI-reducing effect of the dopaminergic receptor agonist, highlighting a role of Meis1 in the dopaminergic system. Other reported phenotypes include enhanced social recognition at an older age that was not related to alterations in adult olfactory bulb neurogenesis previously shown to be implicated in this behavior. In conclusion, the Meis1-deficient mice fulfill some of the hallmarks of an RLS animal model, and revealed the role of Meis1 in sensorimotor gating and in the dopaminergic systems modulating it., Summary: Loss of Meis1 results in motor restlessness in mice, a phenotype resembling human restless legs syndrome, as well as altered sensorimotor gating and improved social discrimination memory.
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- 2017
248. SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities
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Zech, Michael, Poustka, Katharina, Boesch, Sylvia, Berutti, Riccardo, Strom, Tim M., Grisold, Wolfgang, Poewe, Werner, and Winkelmann, Juliane
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Article Subject - Abstract
SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome. Here a novel SOX5 loss-of-function point mutation, c.13C>T (p.Arg5X), is reported, identified in the course of exome sequencing applied to the diagnosis of an unexplained adult-onset motor disorder. Aged 43 years, our female index patient demonstrated abrupt onset of mixed generalized hyperkinesia, with dystonic and choreiform movements being the most salient features. The movement disorder was accompanied by behavioral problems such as anxiety and mood instability. The mutation was found to be inherited to the patient’s son who manifested abnormal behavior including diminished social functioning, paranoid ideation, and anxiety since adolescence. Our results expand the compendium of SOX5 damaging single-nucleotide variation mutations and suggest that SOX5 haploinsufficiency might not be restrictively associated with childhood-onset syndromic disease.
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- 2017
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249. Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum
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Rothwell, Simon, Cooper, Robert G., Lundberg, Ingrid E., Gregersen, Peter K., Hanna, Michael G., Machado, Pedro M., Herbert, Megan K., Pruijn, Ger J. M., Lilleker, James B., Roberts, Mark, Bowes, John, Seldin, Michael F., Vencovsky, Jiri, Danko, Katalin, Limaye, Vidya, Selva‐O'Callaghan, Albert, Platt, Hazel, Molberg, Øyvind, Benveniste, Olivier, Radstake, Timothy R. D. J., Doria, Andrea, De Bleecker, Jan, De Paepe, Boel, Gieger, Christian, Meitinger, Thomas, Winkelmann, Juliane, Amos, Christopher I., Ollier, William E., Padyukov, Leonid, Lee, Annette T., Lamb, Janine A., Chinoy, Hector, Denton, Christopher, Gheorghe, Karina, Hilton‐Jones, David, Kiely, Patrick, and Mann, Herman
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musculoskeletal diseases ,Receptors, CCR5 ,Myositis ,Bio-Molecular Chemistry ,Orvostudományok ,Klinikai orvostudományok ,White People ,Myositis, Inclusion Body ,Journal Article ,Humans ,Genetic Predisposition to Disease ,Chromosomes, Human, Pair 3 ,Age of Onset ,Amino Acids ,Muscle, Skeletal ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Genetic Association Studies ,Autoantibodies ,HLA-DRB1 Chains - Abstract
OBJECTIVE: Inclusion body myositis (IBM) is characterized by a combination of inflammatory and degenerative changes affecting muscle. While the primary cause of IBM is unknown, genetic factors may influence disease susceptibility. To determine genetic factors contributing to the etiology of IBM, we conducted the largest genetic association study of the disease to date, investigating immune-related genes using the Immunochip. METHODS: A total of 252 Caucasian patients with IBM were recruited from 11 countries through the Myositis Genetics Consortium and compared with 1,008 ethnically matched controls. Classic HLA alleles and amino acids were imputed using SNP2HLA. RESULTS: The HLA region was confirmed as the most strongly associated region in IBM (P = 3.58 × 10(-33) ). HLA imputation identified 3 independent associations (with HLA-DRB1*03:01, DRB1*01:01, and DRB1*13:01), although the strongest association was with amino acid positions 26 and 11 of the HLA-DRB1 molecule. No association with anti-cytosolic 5'-nucleotidase 1A-positive status was found independent of HLA-DRB1*03:01. There was no association of HLA genotypes with age at onset of IBM. Three non-HLA regions reached suggestive significance, including the chromosome 3 p21.31 region, an established risk locus for autoimmune disease, where a frameshift mutation in CCR5 is thought to be the causal variant. CONCLUSION: This is the largest, most comprehensive genetic association study to date in IBM. The data confirm that HLA is the most strongly associated region and identifies novel amino acid associations that may explain the risk in this locus. These amino acid associations differentiate IBM from polymyositis and dermatomyositis and may determine properties of the peptide-binding groove, allowing it to preferentially bind autoantigenic peptides. A novel suggestive association within the chromosome 3 p21.31 region suggests a role for CCR5.
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- 2017
250. Update on KMT2B-Related Dystonia.
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Zech, Michael, Lam, Daniel D., and Winkelmann, Juliane
- Abstract
Purpose of Review: To summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. Recent Findings: Since first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense, and deletion mutations, have been reported in 76 patients. Most mutations are de novo and expected to mediate epigenetic dysregulation by inducing KMT2B haploinsufficiency. DYT-KMT2B is characterized phenotypically by limb-onset childhood dystonia that tends to spread progressively, resulting in generalized dystonia with cranio-cervical involvement. Co-occuring signs such as intellectual disability are frequently observed. Sustained response to deep brain stimulation (DBS), including restoration of independent ambulation, is seen in 93% (27/29) of patients. Summary: DYT-KMT2B is emerging as a prevalent monogenic dystonia. Childhood-onset dystonia presentations should prompt a search for KMT2B mutations, preferentially via next-generation-sequencing and genomic-array technologies, to enable specific counseling and treatment. Prospective multicenter studies are desirable to establish KMT2B mutational status as a DBS outcome predictor. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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