Tubulin genes and malformations of cortical development

Authors: Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E., Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T., Cushion, Thomas D.

Source: In European Journal of Medical Genetics December 2018 61(12):744-754

Chapter Six - Developmental and behavioral phenotypic outcomes associated with Tubulinopathy conditions

Authors: Fidler, Deborah J., Van Deusen, Kaylyn, Cushion, Thomas D.

Source: In International Review of Research in Developmental Disabilities 2024 67:159-184

A Novel GABRG2 mutation, p.R136*, in a family with GEFS + and extended phenotypes

Authors: Johnston, Ann J., Kang, Jing-Qiong, Shen, Wangzhen, Pickrell, William O., Cushion, Thomas D., Davies, Jeffrey S., Baer, Kristin, Mullins, Jonathan G.L., Hammond, Carrie L., Chung, Seo-Kyung, Thomas, Rhys H., White, Cathy, Smith, Phil E.M., Macdonald, Robert L., Rees, Mark I.

Source: In Neurobiology of Disease April 2014 64:131-141

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms

Authors: Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G.L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J.G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.

Source: In Journal of Biological Chemistry 22 November 2013 288(47):33745-33759

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

Authors: Gardner, Jennifer F.¹ jennifer.gardner@wales.nhs.uk, Cushion, Thomas D.² cushiont@cardiff.ac.uk, Niotakis, Georgios³ niotakisg@yahoo.gr, Olson, Heather E.⁴ heather.olson@childrens.harvard.edu, Grant, P. Ellen⁵ ellen.grant@childrens.harvard.edu, Scott, Richard H.⁶ richard.scott@genomicsengland.co.uk, Stoodley, Neil⁷ neilstoodley@doctors.org.uk, Cohen, Julie S.⁸ cohenju@kennedykrieger.org, Naidu, Sakkubai^8,9,10 naidu@kennedykrieger.org, Attie-Bitach, Tania^11,12 tania.attie@inserm.fr, Bonnières, Maryse¹¹ maryse.bonniere-darcy@aphp.fr, Boutaud, Lucile^11,12 lucile.boutaud@gmail.com, Encha-Razavi, Férechté¹¹ ferechte.razavi@aphp.fr, Palmer-Smith, Sheila M.¹ sheila.palmer-smith@wales.nhs.uk, Mugalaasi, Hood¹ hood.mugalaasi@wales.nhs.uk, Mullins, Jonathan G. L.¹³ j.g.l.mullins@swansea.ac.uk, Pilz, Daniela T.^2,14 pilzdt@cardiff.ac.uk, Fry, Andrew E.^1,2 fryae@cardiff.ac.uk

Source: Brain Sciences (2076-3425). Aug2018, Vol. 8 Issue 8, p145. 12p.

Subject Terms: *FETAL brain, *TUBULINS

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De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Authors: Cushion, Thomas D., Paciorkowski, Alex R., Pilz, Daniela T., Mullins, Jonathan G.L., Seltzer, Laurie E., Marion, Robert W., Tuttle, Emily, Ghoneim, Dalia, Christian, Susan L., Chung, Seo-Kyung, Rees, Mark I., Dobyns, William B.

Source: In The American Journal of Human Genetics 3 April 2014 94(4):634-641

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Genetic Meta-Analysis of Diagnosed Alzheimer’s Disease Identifies New Risk Loci and Implicates Aβ, Tau, Immunity and Lipid Processing

Authors: Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Andre Uitterlinden, A. G., Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Mayo, Kevin, Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, C. O’Donovan, Michael, DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, Pericak-Vance, Margaret A., Kunkle, Brian, Green, Robert, Growdon, John, Hyman, Bradley, Tanzi, Rudolph

Source: Kunkle, Brian W., Benjamin Grenier-Boley, Rebecca Sims, Joshua C. Bis, Vincent Damotte, Adam C. Naj, Anne Boland, Maria Vronskaya, et al. 2019. Genetic Meta-analysis of Diagnosed Alzheimer's Disease Identifies New Risk Loci and Implicates Aβ, Tau, Immunity and Lipid Processing. Nature Genetics 51, no. 3: 414–430.

Subject Terms: Genetics

File Description: application/pdf

Relation: Nat Genet; Nature Genetics

Access URL: https://nrs.harvard.edu/URN-3:HUL.INSTREPOS:37373134

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The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensor.

Authors: Hochstoeger, Tobias¹, Said, Tarek Al², Maestre, Dante¹, Walter, Florian¹, Vilceanu, Alexandra¹, Pedron, Miriam¹, Cushion, Thomas D.¹, Snider, William³, Nimpf, Simon¹, Nordmann, Gregory Charles¹, Landler, Lukas⁴, Edelman, Nathaniel⁵, Kruppa, Lennard², Dürnberger, Gerhard^1,6, Mechtler, Karl^1,6, Schuechner, Stefan⁷, Ogris, Egon⁷, Malkemper, E. Pascal^7,8, Weber, Stefan², Schleicher, Erik²

Source: Science Advances. 8/12/2020, Vol. 6 Issue 33, p1-13. 13p.

Subject Terms: *GREEN fluorescent protein, *POLYACRYLAMIDE gel electrophoresis, *RECEPTOR-interacting proteins, *PIGEONS, *LIFE sciences, *SCAFFOLD proteins, *ELECTROLUMINESCENT polymers