Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated disease

Autor: Boudjani, Hayet, Fadda, Giulia, Dufort, Gabrielle, Antel, Jack, Giacomini, Paul, Levesque-Roy, Myriam, Oskoui, Maryam, Duquette, Pierre, Prat, Alexandre, Girard, Marc, Rebillard, Rose-Marie, Meijer, Inge, Pinchefsky, Elana, Nguyen, Cam-Tu Emilie, Rossignol, Elsa, Rouleau, Jacinthe, Blanchard, Oliver, Khairallah, Nicole, Beauchemin, Philippe, Trudelle, Anne-Marie, Lapointe, Emmanuelle, Saveriano, Alexander, Larochelle, Catherine

Publikováno v: In Multiple Sclerosis and Related Disorders August 2023 76

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Autor: Lee, Phil H., Anttila, Verneri, Won, Hyejung, Feng, Yen-Chen A., Rosenthal, Jacob, Zhu, Zhaozhong, Tucker-Drob, Elliot M., Nivard, Michel G., Grotzinger, Andrew D., Posthuma, Danielle, Wang, Meg M.-J., Yu, Dongmei, Stahl, Eli A., Walters, Raymond K., Anney, Richard J.L., Duncan, Laramie E., Ge, Tian, Adolfsson, Rolf, Banaschewski, Tobias, Belangero, Sintia, Cook, Edwin H., Coppola, Giovanni, Derks, Eske M., Hoekstra, Pieter J., Kaprio, Jaakko, Keski-Rahkonen, Anna, Kirov, George, Kranzler, Henry R., Luykx, Jurjen J., Rohde, Luis A., Zai, Clement C., Agerbo, Esben, Arranz, M.J., Asherson, Philip, Bækvad-Hansen, Marie, Baldursson, Gísli, Bellgrove, Mark, Belliveau, Richard A., Jr., Buitelaar, Jan, Burton, Christie L., Bybjerg-Grauholm, Jonas, Casas, Miquel, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Søren, Demontis, Ditte, Doyle, Alysa E., Dumont, Ashley, Elia, Josephine, Grove, Jakob, Gudmundsson, Olafur O., Haavik, Jan, Hakonarson, Hakon, Hansen, Christine S., Hartman, Catharina A., Hawi, Ziarih, Hervás, Amaia, Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Leung, Patrick W.L., Loo, Sandra K., Martin, Joanna, Martin, Alicia R., McGough, James J., Medland, Sarah E., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Oades, Robert D., Palmer, Duncan S., Pedersen, Carsten B., Pedersen, Marianne G., Peters, Triinu, Poterba, Timothy, Poulsen, Jesper B., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Ribasés, Marta, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Satterstrom, F. Kyle, Schachar, Russell, Artigas, Maria Soler, Steinberg, Stacy, Stefansson, Hreinn, Turley, Patrick, Walters, G. Bragi, Werge, Thomas, Zayats, Tetyana, Arking, Dan E., Bettella, Francesco, Buxbaum, Joseph D., Christensen, Jane H., Collins, Ryan L., Coon, Hilary, De Rubeis, Silvia, Delorme, Richard, Grice, Dorothy E., Hansen, Thomas F., Holmans, Peter A., Hope, Sigrun, Hultman, Christina M., Klei, Lambertus, Ladd-Acosta, Christine, Magnusson, Pall, Nærland, Terje, Nyegaard, Mette, Pinto, Dalila, Qvist, Per, Rehnström, Karola, Reichenberg, Abraham, Reichert, Jennifer, Roeder, Kathryn, Rouleau, Guy A., Saemundsen, Evald, Sanders, Stephan J., Sandin, Sven, St Pourcain, Beate, Stefansson, Kari, Sutcliffe, James S., Talkowski, Michael E., Weiss, Lauren A., Willsey, A. Jeremy, Agartz, Ingrid, Akil, Huda, Albani, Diego, Alda, Martin, Als, Thomas D., Anjorin, Adebayo, Backlund, Lena, Bass, Nicholas, Bauer, Michael, Baune, Bernhard T., Bellivier, Frank, Bergen, Sarah E., Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Bøen, Erlend, Budde, Monika, Bunney, William, Burmeister, Margit, Byerley, William, Byrne, Enda M., Cichon, Sven, Clarke, Toni-Kim, Coleman, Jonathan R.I., Craddock, Nicholas, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Di Florio, Arianna, Elvsåshagen, Torbjørn, Etain, Bruno, Fischer, Sascha B., Forstner, Andreas J., Forty, Liz, Frank, Josef, Frye, Mark, Fullerton, Janice M., Gade, Katrin, Gaspar, Héléna A., Gershon, Elliot S., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Gordon-Smith, Katherine, Green, Melissa J., Greenwood, Tiffany A., Grigoroiu-Serbanescu, Maria, Guzman-Parra, José, Hauser, Joanna, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Holland, Dominic, Jamain, Stéphane, Jones, Ian, Jones, Lisa A., Kandaswamy, Radhika, Kelsoe, John R., Kennedy, James L., Joachim, Oedegaard Ketil, Kittel-Schneider, Sarah, Kogevinas, Manolis, Koller, Anna C., Lavebratt, Catharina, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Loohuis, Loes M.O., Lucae, Susanne, Maaser, Anna, Malt, Ulrik F., Martin, Nicholas G., Martinsson, Lina, McElroy, Susan L., McMahon, Francis J., McQuillin, Andrew, Melle, Ingrid, Metspalu, Andres, Millischer, Vincent, Mitchell, Philip B., Montgomery, Grant W., Morken, Gunnar, Morris, Derek W., Müller-Myhsok, Bertram, Mullins, Niamh, Myers, Richard M., Nievergelt, Caroline M., Nordentoft, Merete, Adolfsson, Annelie Nordin, Nöthen, Markus M., Ophoff, Roel A., Owen, Michael J., Paciga, Sara A., Pato, Carlos N., Pato, Michele T., Perlis, Roy H., Perry, Amy, Potash, James B., Reinbold, Céline S., Rietschel, Marcella, Rivera, Margarita, Roberson, Mary, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Serretti, Alessandro, Sigurdsson, Engilbert, Smeland, Olav B., Stordal, Eystein, Streit, Fabian, Strohmaier, Jana, Thorgeirsson, Thorgeir E., Treutlein, Jens, Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Wang, Yunpeng, Witt, Stephanie H., Zandi, Peter, Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Aschauer, Harald, Baker, Jessica H., Bencko, Vladimir, Bergen, Andrew W., Birgegård, Andreas, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Clementi, Maurizio, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dina, Christian, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Espeseth, Thomas, Fernández-Aranda, Fernando, Fichter, Manfred M., Foretova, Lenka, Forzan, Monica, Gambaro, Giovanni, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guo, Yiran, Halmi, Katherine A., Hatzikotoulas, Konstantinos, Hebebrand, Johannes, Helder, Sietske G., Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Imgart, Hartmut, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kaye, Walter H., Kennedy, Martin A., Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., Landén, Mikael, Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lichtenstein, Paul, Maj, Mario, Marsal, Sara, McDevitt, Sara, Mitchell, James, Monteleone, Palmiero, Monteleone, Alessio Maria, Munn-Chernoff, Melissa A., Nacmias, Benedetta, Navratilova, Marie, O’Toole, Julie K., Padyukov, Leonid, Pantel, Jacques, Papezova, Hana, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Roberts, Marion, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Schmidt, Ulrike, Seitz, Jochen, Slachtova, Lenka, Slof-Op‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Southam, Lorraine, Strober, Michael, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tziouvas, Konstantinos, van Elburg, Annemarie A., Wade, Tracey D., Wagner, Gudrun, Walton, Esther, Watson, Hunna J., Wichmann, H-Erich, Woodside, D. Blake, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Adams, Mark J., Andlauer, Till F.M., Berger, Klaus, Binder, Elisabeth B., Boomsma, Dorret I., Castelao, Enrique, Colodro-Conde, Lucía, Direk, Nese, Docherty, Anna R., Domenici, Enrico, Domschke, Katharina, Dunn, Erin C., Foo, Jerome C., de. Geus, E.J.C., Grabe, Hans J., Hamilton, Steven P., Horn, Carsten, Hottenga, Jouke-Jan, Howard, David, Ising, Marcus, Kloiber, Stefan, Levinson, Douglas F., Lewis, Glyn, Magnusson, Patrik K.E., Mbarek, Hamdi, Middeldorp, Christel M., Mostafavi, Sara, Nyholt, Dale R., Penninx, Brenda WJH., Peterson, Roseann E., Pistis, Giorgio, Porteous, David J., Preisig, Martin, Quiroz, Jorge A., Schaefer, Catherine, Schulte, Eva C., Shi, Jianxin, Smith, Daniel J., Thomson, Pippa A., Tiemeier, Henning, Uher, Rudolf, van der Auwera, Sandra, Weissman, Myrna M., Alexander, Madeline, Begemann, Martin, Bramon, Elvira, Buccola, Nancy G., Cairns, Murray J., Campion, Dominique, Carr, Vaughan J., Cloninger, C. Robert, Cohen, David, Collier, David A., Corvin, Aiden, DeLisi, Lynn E., Donohoe, Gary, Dudbridge, Frank, Duan, Jubao, Freedman, Robert, Gejman, Pablo V., Golimbet, Vera, Godard, Stephanie, Ehrenreich, Hannelore, Hartmann, Annette M., Henskens, Frans A., Ikeda, Masashi, Iwata, Nakao, Jablensky, Assen V., Joa, Inge, Jönsson, Erik G., Kelly, Brian J., Knight, Jo, Konte, Bettina, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Lerer, Bernard, Loughland, Carmel M., Malhotra, Anil K., Mallet, Jacques, McDonald, Colm, Mitjans, Marina, Mowry, Bryan J., Murphy, Kieran C., Murray, Robin M., O’Neill, F. Anthony, Oh, Sang-Yun, Palotie, Aarno, Pantelis, Christos, Pulver, Ann E., Petryshen, Tracey L., Quested, Digby J., Riley, Brien, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Scott, Rodney J., Sham, Pak C., Silverman, Jeremy M., Sim, Kang, Steixner, Agnes A., Tooney, Paul A., van Os, Jim, Vawter, Marquis P., Walsh, Dermot, Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Wormley, Brandon K., Zhang, Fuquan, Androutsos, Christos, Arnold, Paul D., Barr, Cathy L., Barta, Csaba, Bey, Katharina, Bienvenu, O. Joseph, Black, Donald W., Brown, Lawrence W., Budman, Cathy, Cath, Danielle, Cheon, Keun-Ah, Ciullo, Valentina, Coffey, Barbara J., Cusi, Daniele, Davis, Lea K., Denys, Damiaan, Depienne, Christel, Dietrich, Andrea, Eapen, Valsamma, Falkai, Peter, Fernandez, Thomas V., Garcia-Delgar, Blanca, Geller, Daniel A., Gilbert, Donald L., Grados, Marco A., Greenberg, Erica, Grünblatt, Edna, Hagstrøm, Julie, Hanna, Gregory L., Hartmann, Andreas, Hedderly, Tammy, Heiman, Gary A., Heyman, Isobel, Hong, Hyun Ju, Huang, Alden, Huyser, Chaim, Ibanez-Gomez, Laura, Khramtsova, Ekaterina A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Koh, Yun-Joo, Konstantinidis, Anastasios, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Lochner, Christine, Ludolph, Andrea G., Madruga-Garrido, Marcos, Malaty, Irene, Maras, Athanasios, McCracken, James T., Meijer, Inge A., Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten R., Münchau, Alexander, Murphy, Tara L., Naarden, Allan, Nagy, Peter, Nestadt, Gerald, Nestadt, Paul S., Nicolini, Humberto, Nurmi, Erika L., Okun, Michael S., Paschou, Peristera, Piras, Fabrizio, Piras, Federica, Pittenger, Christopher, Plessen, Kerstin J., Richter, Margaret A., Rizzo, Renata, Robertson, Mary, Roessner, Veit, Ruhrmann, Stephan, Samuels, Jack F., Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey, Song, Dong-Ho, Song, Jungeun, Spalletta, Gianfranco, Stein, Dan J., Stewart, S Evelyn, Storch, Eric A., Stranger, Barbara, Stuhrmann, Manfred, Tarnok, Zsanett, Tischfield, Jay A., Tübing, Jennifer, Visscher, Frank, Vulink, Nienke, Wagner, Michael, Walitza, Susanne, Wanderer, Sina, Woods, Martin, Worbe, Yulia, Zai, Gwyneth, Zinner, Samuel H., Sullivan, Patrick F., Franke, Barbara, Daly, Mark J., Bulik, Cynthia M., McIntosh, Andrew M., O’Donovan, Michael C., Zheutlin, Amanda, Andreassen, Ole A., Børglum, Anders D., Breen, Gerome, Edenberg, Howard J., Fanous, Ayman H., Faraone, Stephen V., Gelernter, Joel, Mathews, Carol A., Mattheisen, Manuel, Mitchell, Karen S., Neale, Michael C., Nurnberger, John I., Ripke, Stephan, Santangelo, Susan L., Scharf, Jeremiah M., Stein, Murray B., Thornton, Laura M., Walters, James T.R., Wray, Naomi R., Geschwind, Daniel H., Neale, Benjamin M., Kendler, Kenneth S., Smoller, Jordan W.

Publikováno v: In Cell 12 December 2019 179(7):1469-1482

Association of Essential Tremor With Novel Risk Loci

Autor: Liao, Calwing, Castonguay, Charles-Etienne, Heilbron, Karl, Vuokila, Veikko, Medeiros, Miranda, Houle, Gabrielle, Akçimen, Fulya, Ross, Jay P., Catoire, Helene, Diez-Fairen, Monica, Kang, Jooeun, Mueller, Stefanie H., Girard, Simon L., Hopfner, Franziska, Lorenz, Delia, Clark, Lorraine N., Soto-Beasley, Alexandra I., Klebe, Stephan, Hallett, Mark, Wszolek, Zbigniew K., Pendziwiat, Manuela, Lorenzo-Betancor, Oswaldo, Seppi, Klaus, Berg, Daniela, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Dupré, Nicolas, Jankovic, Joseph, Testa, Claudia M., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Louis, Elan D., Mandich, Paola, Vitale, Carmine, Barone, Paolo, García-Martín, Elena, Alonso-Navarro, Hortensia, Agúndez, José A. G., Jiménez-Jiménez, Félix Javier, Pastor, Pau, Rajput, Alex, Deuschl, Günther, Kuhlenbaümer, Gregor, Meijer, Inge A., Dion, Patrick A., Rouleau, Guy A.

Publikováno v: JAMA Neurology

Key Points Question Can common genetic variants associated with essential tremor (ET) be identified? Findings In this genome-wide association study and meta-analysis including genetic data on 483 054 individuals, 5 genome-wide significant loci were a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::734c5fb023cba12b2a5cf425b4e140eb
http://europepmc.org/articles/PMC8728658

Mutations in the KIAA0196 Gene at the SPG8 Locus Cause Hereditary Spastic Paraplegia

Autor: Valdmanis, Paul N., Meijer, Inge A., Reynolds, Annie, Lei, Adrienne, MacLeod, Patrick, Schlesinger, David, Zatz, Mayana, Reid, Evan, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A.

Publikováno v: In The American Journal of Human Genetics 2007 80(1):152-161

Transgenic expression of an expanded (GCG) 13 repeat PABPN1 leads to weakness and coordination defects in mice

Autor: Dion, Patrick, Shanmugam, Vijayalakshmi, Gaspar, Claudia, Messaed, Christiane, Meijer, Inge, Toulouse, André, Laganiere, Janet, Roussel, Julie, Rochefort, Daniel, Laganiere, Simon, Allen, Carol, Karpati, George, Bouchard, Jean-Pierre, Brais, Bernard, Rouleau, Guy A.

Publikováno v: In Neurobiology of Disease 2005 18(3):528-536