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Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications Iacoangeli, Alfredo; Dilliott, Allison A.; Al Khleifat, Ahmad; Andersen, Peter M.; Basak, Nazli A.; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; Decarvalho, Mamede; Drory, Vivian E.; Glass, Jonathan D.; Gotkine, Marc; Lerner, Yosef M.; Hardiman, Orla; Landers, John E.; Mclaughlin, Russell L.; Pardina, Jesus S. Mora; Morrison, Karen; Pinto, Susana; Povedano, Monica; Shaw, Christopher E.; Shaw, Pamela J.; Silani, Vincenzo; Ticozzi, Nicola; van Damme, Philip; van den Berg, Leonard H.; Vourc'h, Patrick; Weber, Markus; Veldink, Jan Herman; Dobson, Richard; Rouleau, Guy A.; Al-Chalabi, Ammar; Farhan, Sali M. K. Share Save
Pre-clinical development of AVB-101, an AAV gene therapy treatment for frontotemporal dementia with progranulin mutations Lee, YB; Miranda, CJ; Allison, J; Kaliszewska, A; Bekele, Y; Hosseini, P; Joubert, R; Walker, Z; Furtado, J; Gumus, M; Fernandes, A; Brock, O; Bouchard, P; Bloom, A; Lee, DY; Shaw, CE Share Save
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (vol 13, 6901, 2022) Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. Share Save
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS Marriott, Heather; Spargo, Thomas P.; Al Khleifat, Ahmad; Andersen, Peter M.; Basak, Nazli A.; Cooper-Knock, Johnathan; Corcia, Philippe; Couratier, Philippe; de Carvalho, Mamede; Drory, Vivian; Gotkine, Marc; Landers, John E.; McLaughlin, Russell; Pardina, Jesus S. Mora; Morrison, Karen E.; Pinto, Susana; Shaw, Christopher E.; Shaw, Pamela J.; Silani, Vincenzo; Ticozzi, Nicola; van Damme, Philip; van den Berg, Leonard H.; Vourc'h, Patrick; Weber, Markus; Veldink, Jan H.; Dobson, Richard J.; Schwab, Patrick; Al-Chalabi, Ammar; Iacoangeli, Alfredo Share Save
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia Thumbadoo, Kyrah M.; Dieriks, Birger, V; Murray, Helen C.; Swanson, Molly E., V; Yoo, Ji Hun; Mehrabi, Nasim F.; Turner, Clinton; Dragunow, Michael; Faull, Richard L. M.; Curtis, Maurice A.; Siddique, Teepu; Shaw, Christopher E.; Newell, Kathy L.; Henden, Lyndal; Williams, Kelly L.; Nicholson, Garth A.; Scotter, Emma L. Share Save
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons Shum, Carole; Hedges, Erin C.; Allison, Joseph; Lee, Youn-bok; Arias, Natalia; Cocks, Graham; Chandran, Siddharthan; Ruepp, Marc-David; Shaw, Christopher E.; Nishimura, Agnes L. Share Save
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases Chen, Zhongbo; Reynolds, Regina H.; Pardinas, Antonio F.; Taliun, Sarah A. Gagliano; van Rheenen, Wouter; Lin, Kuang; Shatunov, Aleksey; Gustavsson, Emil K.; Fogh, Isabella; Jones, Ashley R.; Robberecht, Wim; Corcia, Philippe; Chio, Adriano; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Shaw, Christopher E.; Powell, John F.; Silani, Vincenzo; Hardy, John A.; Houlden, Henry; Owen, Michael J.; Turner, Martin R.; Ryten, Mina; Al-Chalabi, Ammar Share Save
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival Adey, Brett N.; Cooper-Knock, Johnathan; Al Khleifat, Ahmad; Fogh, Isabella; van Damme, Philip; Corcia, Philippe; Couratier, Philippe; Hardiman, Orla; McLaughlin, Russell; Gotkine, Marc; Drory, Vivian; Silani, Vincenzo; Ticozzi, Nicola; Veldink, Jan H.; van den Berg, Leonard H.; de Carvalho, Mamede; Pinto, Susana; Pardina, Jesus S. Mora S.; Panades, Monica Povedano; Andersen, Peter M.; Weber, Markus; Basak, Nazli A.; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Landers, John E.; Glass, Jonathan D.; Vourc'h, Patrick; Dobson, Richard J. B.; Breen, Gerome; Al-Chalabi, Ammar; Jones, Ashley R.; Iacoangeli, Alfredo Share Save
Accelerated resolution of inflammation underlies sex differences in inflammatory responses in humans (vol 127, pg 169, 2017) Rathod, Krishnaraj S.; Kapil, Vikas; Velmurugan, Shanti; Khambata, Rayomand S.; Siddique, Umme; Khan, Saima; Eijl, Sven Van; Gee, Lorna C.; Bansal, Jascharanpreet; Pitrola, Kavi; Shaw, Christopher; D'Acquisto, Fulvio; Colas, Romain A.; Marelli-Berg, Federica; Dalli, Jesmond; Ahluwalia, Amrita Share Save
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data Al Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar Share Save
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration Opie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E. Share Save
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration Trist, Benjamin G.; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher; Al-Sarraj, Safa; Blair, Ian P.; Double, Kay L. Share Save
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord Trist, Benjamin G.; Genoud, Sian; Roudeau, Stephane; Rookyard, Alexander; Abdeen, Amr; Cottam, Veronica; Hare, Dominic J.; White, Melanie; Altvater, Jens; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Blair, Ian P.; Kysenius, Kai; Crouch, Peter J.; Carmona, Asuncion; Rufin, Yann; Claverol, Stephane; Van Malderen, Stijn; Falkenberg, Gerald; Paterson, David J.; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher E.; Al-Sarraj, Safa; Cordwell, Stuart; Halliday, Glenda; Ortega, Richard; Double, Kay L. Share Save
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS Hop, Paul J.; Zwamborn, Ramona A. J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; van Rheenen, Wouter; van Vugt, Joke J. F. A.; Dekker, Annelot M.; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Moisse, Matthieu; Baird, Denis; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Ticozzi, Nicola; Ratti, Antonia; Cooper-Knock, Jonathan; Morrison, Karen E.; Shaw, Pamela J.; Basak, A. Nazli; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Brunetti, Maura; Grassano, Maurizio; Gotkine, Marc; Lerner, Yossef; Zabari, Michal; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Pardina, Jesus S. Mora; Salas, Teresa; Dion, Patrick; Ross, Jay P.; Henderson, Robert D.; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Nicholson, Garth; Rowe, Dominic B.; Pamphlett, Roger; Mather, Karen A.; Sachdev, Perminder S.; Furlong, Sarah; Garton, Fleur C.; Henders, Anjali K.; Lin, Tian; Ngo, Shyuan T.; Steyn, Frederik J.; Wallace, Leanne; Williams, Kelly L.; Neto, Miguel Mitne; Cauchi, Ruben J.; Blair, Ian P.; Kiernan, Matthew C.; Drory, Vivian; Povedano, Monica; de Carvalho, Mamede; Pinto, Susana; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; McRae, Allan F.; van Es, Michael A.; Pasterkamp, R. Jeroen; Wray, Naomi R.; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Tsai, Ellen; Runz, Heiko; Al-Chalabi, Ammar; van den Berg, Leonard H.; Van Damme, Philip; Mill, Jonathan; Veldink, Jan H. Share Save
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021) van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H. Share Save
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries Skoric-Milosavljevic, Doris; Tadros, Rafik; Bosada, Fernanda M.; Tessadori, Federico; van Weerd, Jan Hendrik; Woudstra, Odilia, I; Tjong, Fleur V. Y.; Lahrouchi, Najim; Bajolle, Fanny; Cordell, Heather J.; Agopian, A. J.; Blue, Gillian M.; Barge-Schaapveld, Daniela Q. C. M.; Gewillig, Marc; Preuss, Christoph; Lodder, Elisabeth M.; Barnett, Phil; Ilgun, Aho; Beekman, Leander; van Duijvenboden, Karel; Bokenkamp, Regina; Muller-Nurasyid, Martina; Vliegen, Hubert W.; Konings, Thelma C.; van Melle, Joost P.; van Dijk, Arie P. J.; van Kimmenade, Roland R. J.; Roos-Hesselink, Jolien W.; Sieswerda, Gertjan; Meijboom, Folkert; Abdul-Khaliq, Hashim; Berger, Felix; Dittrich, Sven; Hitz, Marc-Phillip; Moosmann, Julia; Riede, Frank-Thomas; Schubert, Stephan; Galan, Pilar; Lathrop, Mark; Munter, Hans Markus; Al-Chalabi, Ammar; Shaw, Christopher E.; Shaw, Pamela J.; Morrison, Karen E.; Veldink, Jan H.; van den Berg, Leonard H.; Evans, Sylvia; Nobrega, Marcelo A.; Aneas, Ivy; Radivojkov-Blagojevic, Milena; Meitinger, Thomas; Oechslin, Erwin; Mondal, Tapas; Bergin, M. Lynn; Smythe, John F.; Altamirano-Diaz, Luis; Lougheed, Jane; Bouma, Berto J.; Chaix, Marie A.; Kline, Jennie; Bassett, Anne S.; Andelfinger, Gregor; van der Palen, Roel L. F.; Bouvagnet, Patrice; Clur, Sally-Ann B.; Breckpot, Jeroen; Kerstjens-Frederikse, Wilhelmina S.; Winlaw, David S.; Bauer, Ulrike M. M.; Mital, Seema; Goldmuntz, Elizabeth; Keavney, Bernard; Bonnet, Damien; Mulder, Barbara J.; Tanck, Michael W. T.; Bakkers, Jeroen; Christoffels, Vincent M.; Boogerd, Cornelis J.; Postma, Alex, V; Bezzina, Connie R. Share Save
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