Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Bowser, Robert"'
Autor:
Lorenzini, Ileana, Alsop, Eric, Levy, Jennifer, Gittings, Lauren M., Lall, Deepti, Rabichow, Benjamin E., Moore, Stephen, Pevey, Ryan, Bustos, Lynette M., Burciu, Camelia, Bhatia, Divya, Singer, Mo, Saul, Justin, McQuade, Amanda, Tzioras, Makis, Mota, Thomas A., Logemann, Amber, Rose, Jamie, Almeida, Sandra, Gao, Fen-Biao, Marks, Michael, Donnelly, Christopher J., Hutchins, Elizabeth, Hung, Shu-Ting, Ichida, Justin, Bowser, Robert, Spires-Jones, Tara, Blurton-Jones, Mathew, Gendron, Tania F., Baloh, Robert H., Van Keuren-Jensen, Kendall, Sattler, Rita
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ebd694004201adc43c856b4034632578
https://escholarship.org/uc/item/7179b4zp
https://escholarship.org/uc/item/7179b4zp
Autor:
Brown, Anna-Leigh, Wilkins, Oscar G., Keuss, Matthew J., Hill, Sarah E., Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora C. Y., Masino, Laura, Qi, Yue A., Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos. A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matthew, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H., Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Lerner, Yossef, Sattler, Rita, Van Keuren-Jensen, Kendall, Rozenblatt-Rosen, Orit, Lindblad-Toh, Kerstin, Nicholson, Katharine, Gregersen, Peter, Lee, Jeong-Ho, Kokos, Sulev, Muljo, Stephen, Newcombe, Jia, Gustavsson, Emil K., Seddighi, Sahba, Reyes, Joel F., Coon, Steven L., Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth M. C., Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E.
Publikováno v:
Nature, 603(7899), 131-137. Nature Publishing Group
Nature, vol 603, iss 7899
NYGC ALS Consortium 2022, ' TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A ', Nature, vol. 603, no. 7899, pp. 131-137 . https://doi.org/10.1038/s41586-022-04436-3
Nature, 603(7899), 131-+. NATURE PORTFOLIO
Nature, vol 603, iss 7899
NYGC ALS Consortium 2022, ' TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A ', Nature, vol. 603, no. 7899, pp. 131-137 . https://doi.org/10.1038/s41586-022-04436-3
Nature, 603(7899), 131-+. NATURE PORTFOLIO
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-434,5. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a25848cce9d1ba10e3d3a48fd3e242
Autor:
Lester, Evan, Ooi, Felicia K, Bakkar, Nadine, Ayers, Jacob, Woerman, Amanda L, Wheeler, Joshua, Bowser, Robert, Carlson, George A, Prusiner, Stanley B, Parker, Roy
Publikováno v:
Neuron, vol 109, iss 10
Tau aggregates contribute to neurodegenerative diseases, including frontotemporal dementia and Alzheimer's disease (AD). Although RNA promotes tau aggregation invitro, whether tau aggregates in cells contain RNA is unknown. We demonstrate, in cell cu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::f435d959725a73af977ed49bbe8a3b3d
https://escholarship.org/uc/item/442036xq
https://escholarship.org/uc/item/442036xq
Autor:
Henninger, Nils, Bouley, James, Sikoglu, Elif M., An, Jiyan, Moore, Constance M., King, Jean A., Bowser, Robert, Freeman, Marc R., Brown Jr, Robert H., Brown, Robert H Jr
Publikováno v:
Brain: A Journal of Neurology; Apr2016, Vol. 139 Issue 4, p1094-1105, 12p
Autor:
Coyne, Alyssa N., Siddegowda, Bhavani Bagevalu, Estes, Patricia S., Johannesmeyer, Jeffrey, Kovalik, Tina, Daniel, Scott G., Pearson, Antony, Bowser, Robert, Zarnescu, Daniela C.
Publikováno v:
Journal of Neuroscience; 11/26/2014, Vol. 34 Issue 48, p15962-15974, 13p
Autor:
Bandres‐Ciga, S, Noyce, AJ, Hemani, G, Nicolas, A, Calvo, A, Mora, G, Arosio, A, Barberis, M, Bartolomei, I, Battistini, S, Benigni, M, Borghero, G, Brunetti, M, Cammarosano, S, Cannas, A, Canosa, A, Capasso, M, Caponnetto, C, Caredda, C, Carrera, P, Casale, F, Cavallaro, S, Chiò, A, Colletti, T, Conforti, FL, Conte, A, Corrado, L, Costantino, E, D'Alfonso, S, Fasano, A, Femiano, C, Ferrarese, C, Fini, N, Floris, G, Fuda, G, Giannini, F, Grassano, M, Ilardi, A, La Bella, V, Lattante, S, Logroscino, G, Logullo, FO, Loi, D, Lunetta, C, Mancardi, G, Mandich, P, Mandrioli, J, Manera, U, Marangi, G, Marinou, K, Marrali, G, Marrosu, MG, Mazzini, L, Melis, M, Messina, S, Moglia, C, Monsurro, MR, Mosca, L, Occhineri, P, Origone, P, Pani, C, Penco, S, Petrucci, A, Piccirillo, G, Pirisi, A, Pisano, F, Pugliatti, M, Restagno, G, Ricci, C, Rita Murru, M, Riva, N, Sabatelli, M, Salvi, F, Santarelli, M, Sideri, R, Simone, I, Spataro, R, Tanel, R, Tedeschi, G, Tranquilli, S, Tremolizzo, L, Trojsi, F, Volanti, P, Zollino, M, Abramzon, Y, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Chia, R, Cooper‐Knock, J, Cusi, D, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, Faghri, F, Feldman, E, Kay Floeter, M, Fratta, P, Geiger, JT, Gerhard, G, Gibbs, JR, Gibson, SB, Glass, JD, Hardy, J, Harms, MB, Heiman‐Patterson, TD, Hernandez, DG, Jansson, L, Kamel, F, Kirby, J, Kowall, NW, Laaksovirta, H, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering‐Brown, S, Pioro, E, Pliner, HA, Pulst, SM, Ravits, JM, Renton, AE, Rivera, A, Robbrecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Salvi, E, Scholz, SW, Sendtner, M, Shaw, PJ, Sidle, KC, Simmons, Z, Singleton, AB, Stone, DC, Sulkava, R, Tienari, PJ, Traynor, BJ, Trojanowski, JQ, Troncoso, JC, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Stone, DJ
Publikováno v:
Annals of neurology 85 (2019): 470–481. doi:10.1002/ana.25431
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ', Annals of Neurology, vol. 85, no. 4, pp. 470-481 . https://doi.org/10.1002/ana.25431
Annals of Neurology
Annals of Neurology, Wiley, 2019, 85 (4), pp.470-481. ⟨10.1002/ana.25431⟩
info:cnr-pdr/source/autori:Bandres-Ciga S; Noyce AJ; Hemani G; Nicolas A; Calvo A; Mora G; Arosio A; Barberis M; Bartolomei I; Battistini S; Benigni M; Borghero G; Brunetti M; Cammarosano S; Cannas A; Canosa A; Capasso M; Caponnetto C; Caredda C; Carrera P; Casale F; Cavallaro S; Chiò A; Colletti T; Conforti FL; Conte A; Corrado L; Costantino E; D'Alfonso S; Fasano A; Femiano C; Ferrarese C; Fini N; Floris G; Fuda G; Giannini F; Grassano M; Ilardi A; La Bella V; Lattante S; Logroscino G; Logullo FO; Loi D; Lunetta C; Mancardi G; Mandich P; Mandrioli J; Manera U; Marangi G; Marinou K; Marrali G; Marrosu MG; Mazzini L; Melis M; Messina S; Moglia C; Monsurro MR; Mosca L; Occhineri P; Origone P; Pani C; Penco S; Petrucci A; Piccirillo G; Pirisi A; Pisano F; Pugliatti M; Restagno G; Ricci C; Rita Murru M; Riva N; Sabatelli M; Salvi F; Santarelli M; Sideri R; Simone I; Spataro R; Tanel R; Tedeschi G; Tranquilli S; Tremolizzo L; Trojsi F; Volanti P; Zollino M; Abramzon Y; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Cusi D; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; Faghri F; Feldman E; Kay Floeter M; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kamel F; Kirby J; Kowall NW; Laaksovirta H; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro E; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robbrecht W; Rogaeva E; Rollinson S; Rothstein JD; Salvi E; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Stone DC; Sulkava R; Tienari PJ; Traynor BJ; Trojanowski JQ; Troncoso JC; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Stone DJ;/titolo:Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis/doi:10.1002%2Fana.25431/rivista:Annals of neurology/anno:2019/pagina_da:470/pagina_a:481/intervallo_pagine:470–481/volume:85
2019, ' Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis ', Annals of Neurology, vol. 85, no. 4, pp. 470-481 . https://doi.org/10.1002/ana.25431
Annals of Neurology
Annals of Neurology, Wiley, 2019, 85 (4), pp.470-481. ⟨10.1002/ana.25431⟩
OBJECTIVE: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). METHODS: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81ec44e96e87becc7f1c928039052519
http://hdl.handle.net/11591/406432
http://hdl.handle.net/11591/406432
Autor:
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, null Shankaracharya, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, Aaron D. Gitler, Tim Harris, Richard M. Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C. Zody, Julia Kaye, Steven Finkbeiner, Stacia K. Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Robert Bowser, Stefan M. Pulst, John M. Ravits, Daniel J.L. MacGowan, Janine Kirby, Erik P. Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan C. Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W. Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor, John E. Landers, Isabella Simone, Giancarlo Logroscino, Ilaria Bartolomei, Maria Rita Murru, Emanuela Costantino, Carla Pani, Roberta Puddu, Carla Caredda, Valeria Piras, Stefania Tranquilli, Stefania Cuccu, Daniela Corongiu, Maurizio Melis, Antonio Milia, Francesco Marrosu, Maria Giovanna Marrosu, Gianluca Floris, Antonino Cannas, Gianluigi Mancardi, Paola Origone, Paola Mandich, Sebastiano Cavallaro, Kalliopi Marinou, Riccardo Sideri, Silvana Penco, Lorena Mosca, Giuseppe Lauria Pinter, Massimo Corbo, Paola Carrera, Nicola Fini, Antonio Fasano, Lucio Tremolizzo, Alessandro Arosio, Carlo Ferrarese, Gioacchino Tedeschi, Maria Rosaria Monsurrò, Giovanni Piccirillo, Cinzia Femiano, Anna Ticca, Enzo Ortu, Rossella Spataro, Tiziana Colletti, Marcella Zollino, Amelia Conte, Marco Luigetti, Serena Lattante, Marialuisa Santarelli, Antonio Petrucci, Maura Pugliatti, Angelo Pirisi, Leslie D. Parish, Patrizia Occhineri, Fabio Giannini, Claudia Ricci, Michele Benigni, Tea B. Cau, Daniela Loi, Cristina Moglia, Maura Brunetti, Marco Barberis, Gabriella Restagno, Federico Casale, Giuseppe Marrali, Giuseppe Fuda, Irene Ossola, Stefania Cammarosano, Antonio Canosa, Antonio Ilardi, Umberto Manera, Maurizio Grassano, Raffaella Tanel, Fabrizio Pisano, Neil A. Shneider, Stephen Goutman, Siddharthan Chandran, Suvankar Pal, George Manousakis, Stanley H. Appel, Ericka Simpson, Leo Wang, Summer Gibson, Richard Bedlack, David Lacomis, Dhruv Sareen, Alexander Sherman, Lucie Bruijn, Michelle Penny, Andrew S. Allen, Stanley Appel, Richard S. Bedlack, Braden E. Boone, Robert Brown, John P. Carulli, Alessandra Chesi, Wendy K. Chung, Elizabeth T. Cirulli, Gregory M. Cooper, Julien Couthouis, Aaron G. Day-Williams, Patrick A. Dion, Yujun Han, Sebastian D. Hayes, Angela L. Jones, Jonathan Keebler, Brian J. Krueger, Brittany N. Lasseigne, Shawn E. Levy, Yi-Fan Lu, Tom Maniatis, Slavé Petrovski, Alya R. Raphael, Zhong Ren, Katherine B. Sims, John F. Staropoli, Lindsay L. Waite, Quanli Wang, Jack R. Wimbish, Winnie W. Xin, Justin Kwan, James R. Broach, Ximena Arcila-Londono, Edward B. Lee, Noah Zaitlen, Gregory A. Cox, Steve Finkbeiner, Efthimios Dardiotis, Eran Hornstein, Daniel J. MacGowan, Terry Heiman-Patterson, Molly G. Hammell, Nikolaos A. Patsopoulos, Joshua Dubnau, Avindra Nath, Stacia Wyman, Alexander LeNail, Jenny Van Eyk, Stephan Züchner, Rebecca Schule, Jacob McCauley, Sumaira Hussain, Anne Cooley, Marielle Wallace, Christine Clayman, Richard Barohn, Jeffrey Statland, John Ravits, Andrea Swenson, Carlayne Jackson, Jaya Trivedi, Shaida Khan, Jonathan Katz, Liberty Jenkins, Ted Burns, Kelly Gwathmey, James Caress, Corey McMillan, Lauren Elman, Erik Pioro, Jeannine Heckmann, Yuen So, David Walk, Samuel Maiser, Jinghui Zhang, Fabiola De Marchi, Stefania Corti, Mauro Ceroni, Gabriele Siciliano, Massimiliano Filosto, Maurizio Inghilleri, Silvia Peverelli, Claudia Colombrita, Barbara Poletti, Luca Maderna, Roberto Del Bo, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Viviana Pensato, Barbara Castellotti, Vincent Meininger, Gérard Besson, Emmeline Lagrange, Pierre Clavelou, Nathalie Guy, Philippe Couratier, Patrick Vourch, Véronique Danel, Emilien Bernard, Gwendal Lemasson, Ahmad Al Kheifat, Peter Andersen, Adriano Chio, Jonathan Cooper-Knock, Annelot Dekker, Vivian Drory, Alberto Garcia Redondo, Marc Gotkine, Winston Hide, Alfredo Iacoangeli, Jonathan Glass, Kevin Kenna, Matthew Kiernan, John Landers, Russell McLaughlin, Jonathan Mill, Miguel Mitne Neto, Mattieu Moisse, Jesus Mora Pardina, Karen Morrison, Stephen Newhouse, Susana Pinto, Sara Pulit, Pamela Shaw, Chris Shaw, William Sproviero, Gijs Tazelaar, Philip van Damme, Leonard van den Berg, Rick van der Spek, Kristel van Eijk, Michael van Es, Joke van Vugt, Jan Veldink, Mayana Zatz, Denis C. Bauer, Natalie A. Twine
Publikováno v:
Neuron, 97(6), 1268. Cell Press
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
Neuron, 97(6), 1268
Neuron
ITALSGEN Consortium 2018, ' Genome-wide Analyses Identify KIF5A as a Novel ALS Gene ', Neuron, vol. 97, no. 6, pp. 1268-1283.e6 . https://doi.org/10.1016/j.neuron.2018.02.027
PMC
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
1283.e
Neuron, 97(6), 1268-1283.e6. Cell Press
Neuron, Elsevier, 2018, 97 (6), pp.1268--1283.e6. ⟨10.1016/j.neuron.2018.02.027⟩
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Neuron, vol 97, iss 6
Neuron (Camb. Mass.) 97 (2018): 1268–1283.e6. doi:10.1016/j.neuron.2018.02.027
info:cnr-pdr/source/autori:Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio/titolo:Genome-wide Analyses Identify KIF5A as a Novel ALS Gene/doi:10.1016%2Fj.neuron.2018.02.027/rivista:Neuron (Camb. Mass.)/anno:2018/pagina_da:1268/pagina_a:1283.e6/intervallo_pagine:1268–1283.e6/volume:97
© 2018 Elsevier Inc.
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeb7ec307960d0e43e5575923f90d005
https://dspace.library.uu.nl/handle/1874/363799
https://dspace.library.uu.nl/handle/1874/363799