Transcription factor Pebbled/RREB1 regulates injury-induced axon degeneration
Farley, Jonathan E., Burdett, Thomas C., Barria, Romina, Neukomm, Lukas J., Kenna, Kevin P., Landers, John E., Freeman, Marc R.
Published in Proceedings of the National Academy of Sciences - PNAS (06.02.2018)
Published in Proceedings of the National Academy of Sciences - PNAS (06.02.2018)
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Genetic analysis of ALS cases in the isolated island population of Malta
Borg, Rebecca, Farrugia Wismayer, Maia, Bonavia, Karl, Farrugia Wismayer, Andrew, Vella, Malcolm, van Vugt, Joke J F A, Kenna, Brendan J, Kenna, Kevin P, Vassallo, Neville, Veldink, Jan H, Cauchi, Ruben J
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Journal Article
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis
Harvey, Calum, Weinreich, Marcel, Lee, James A.K., Shaw, Allan C., Ferraiuolo, Laura, Mortiboys, Heather, Zhang, Sai, Hop, Paul J., Zwamborn, Ramona A.J., van Eijk, Kristel, Julian, Thomas H., Moll, Tobias, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Quinn, John P., Pfaff, Abigail L., Kõks, Sulev, Poulton, Joanna, Battle, Stephanie L., Arking, Dan E., Snyder, Michael P., Veldink, Jan H., Kenna, Kevin P., Shaw, Pamela J., Cooper-Knock, Johnathan
Published in Heliyon (15.02.2024)
Published in Heliyon (15.02.2024)
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Journal Article
Advances in the genetic classification of amyotrophic lateral sclerosis
Cooper-Knock, Johnathan, Harvey, Calum, Zhang, Sai, Moll, Tobias, Timpanaro, Ilia Sarah, Kenna, Kevin P, Iacoangeli, Alfredo, Veldink, Jan H
Published in Current opinion in neurology (01.10.2021)
Published in Current opinion in neurology (01.10.2021)
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Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon, Kenna, Kevin P., Scotter, Emma L., Kost, Jason, Keagle, Pamela, Miller, Jack W., Calini, Daniela, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Tiloca, Cinzia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Colombrita, Claudia, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Simpson, Michael, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Morrison, Karen E., Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Dion, Patrick A., Leblond, Claire S., Rouleau, Guy A., Hardiman, Orla, Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E.
Published in Neuron (Cambridge, Mass.) (22.10.2014)
Published in Neuron (Cambridge, Mass.) (22.10.2014)
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Moll, Tobias, Marshall, Jack N.G., Harvey, Calum, Nezhad, Helia Ghahremani, Franklin, John, Souza, Cleide dos Santos, Ning, Ke, Wang, Cheng, Li, Jingjing, Dilliott, Allison A., Farhan, Sali, Elhaik, Eran, Pasniceanu, Iris, Livesey, Matthew R., Eitan, Chen, Hornstein, Eran, Kenna, Kevin P., Blair, Ian, Wray, Naomi R., Kiernan, Matthew, Mitne Neto, Miguel, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Philippe, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan H., van den Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Nazli A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Veldink, Jan H., Ferraiuolo, Laura, Shaw, Pamela J., Snyder, Michael P.
Published in Neuron (Cambridge, Mass.) (16.03.2022)
Published in Neuron (Cambridge, Mass.) (16.03.2022)
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Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
Kenna, Kevin P, McLaughlin, Russell L, Byrne, Susan, Elamin, Marwa, Heverin, Mark, Kenny, Elaine M, Cormican, Paul, Morris, Derek W, Donaghy, Colette G, Bradley, Daniel G, Hardiman, Orla
Published in Journal of medical genetics (01.11.2013)
Published in Journal of medical genetics (01.11.2013)
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Journal Article
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
de Majo, Martina, Topp, Simon D., Smith, Bradley N., Nishimura, Agnes L., Chen, Han-Jou, Gkazi, Athina Soragia, Miller, Jack, Wong, Chun Hao, Vance, Caroline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Kenna, Kevin P., Ticozzi, Nicola, Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Morrison, Karen E., Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Gellera, Cinzia, Ratti, Antonia, Al-Chalabi, Ammar, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
Published in Neurobiology of aging (01.11.2018)
Published in Neurobiology of aging (01.11.2018)
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The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
van der Spek, Rick A.A., van Rheenen, Wouter, Pulit, Sara L., Kenna, Kevin P., van den Berg, Leonard H., Veldink, Jan H.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
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Journal Article
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Hop, Paul J., Lai, Dongbing, Keagle, Pamela J., Baron, Desiree M., Kenna, Brendan J., Kooyman, Maarten, Shankaracharya, Halter, Cheryl, Straniero, Letizia, Asselta, Rosanna, Bonvegna, Salvatore, Soto-Beasley, Alexandra I., Wszolek, Zbigniew K., Uitti, Ryan J., Isaias, Ioannis Ugo, Pezzoli, Gianni, Ticozzi, Nicola, Ross, Owen A., Veldink, Jan H., Foroud, Tatiana M., Kenna, Kevin P., Landers, John E.
Published in Nature genetics (01.07.2024)
Published in Nature genetics (01.07.2024)
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Journal Article
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Elhaik, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Blair, Ian, Wray, Naomi, Kiernan, Matthew, Neto, Miguel Mitne, Chio, Adriano, Cauchi, Ruben, Robberecht, Wim, van Damme, Philip, Corcia, Phillippe, Couratier, Phillipe, Hardiman, Orla, McLaughlin, Russel, Gotkine, Marc, Drory, Vivan, Ticozzi, Nicola, Silani, Vincenzo, Veldink, Jan, van den Berg, Leonard, de Carvalho, Mamede, Pardina, Jesus Mora, Povedano, Monica, Andersen, Peter, Wber, Markus, Başak, Nazli, Al-Chalabi, Ammar, Shaw, Christopher, Shaw, Pamela, Morrison, Karen, Landers, John, Glass, Jonathan, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., Shaw, Pamela J.
Published in Cell reports (Cambridge) (01.12.2020)
Published in Cell reports (Cambridge) (01.12.2020)
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Journal Article
Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene
Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Elhaik, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., Shaw, Pamela J.
Published in Cell reports (Cambridge) (02.02.2021)
Published in Cell reports (Cambridge) (02.02.2021)
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Journal Article
Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K., Shi, Minyi, Kozhaya, Lina, Unutmaz, Derya, Harvey, Calum, Julian, Thomas H., Furini, Simone, Frullanti, Elisa, Fava, Francesca, Renieri, Alessandra, Gao, Peng, Shen, Xiaotao, Timpanaro, Ilia Sarah, Kenna, Kevin P., Baillie, J. Kenneth, Davis, Mark M., Tsao, Philip S., Snyder, Michael P.
Published in Cell Systems (17.08.2022)
Published in Cell Systems (17.08.2022)
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Web Resource
Homozygosity mapping in an Irish ALS case–control cohort describes local demographic phenomena and points towards potential recessive risk loci
McLaughlin, Russell L., Kenna, Kevin P., Vajda, Alice, Heverin, Mark, Byrne, Susan, Donaghy, Colette G., Cronin, Simon, Bradley, Daniel G., Hardiman, Orla
Published in Genomics (San Diego, Calif.) (01.04.2015)
Published in Genomics (San Diego, Calif.) (01.04.2015)
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A second-generation Irish genome-wide association study for amyotrophic lateral sclerosis
McLaughlin, Russell L, Kenna, Kevin P, Vajda, Alice, Bede, Peter, Elamin, Marwa, Cronin, Simon, Donaghy, Colette G, Bradley, Daniel G, Hardiman, Orla
Published in Neurobiology of aging (01.02.2015)
Published in Neurobiology of aging (01.02.2015)
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Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis
Boddy, Sarah, Islam, Mahjabin, Moll, Tobias, Kurz, Julian, Burrows, David, McGown, Alexander, Bhargava, Anushka, Julian, Thomas H, Harvey, Calum, Marshall, Jack NG, Hall, Benjamin PC, Allen, Scott P, Kenna, Kevin P, Sanderson, Eleanor, Zhang, Sai, Ramesh, Tennore, Snyder, Michael P, Shaw, Pamela J, McDermott, Christopher, Cooper-Knock, Johnathan
Published in Brain communications (2022)
Published in Brain communications (2022)
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Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS
Zhang, Sai, Moll, Tobias, Rubin-Sigler, Jasper, Tu, Sharon, Li, Shuya, Yuan, Enming, Liu, Menghui, Butt, Afreen, Harvey, Calum, Gornall, Sarah, Alhalthli, Elham, Shaw, Allan, Souza, Cleide Dos Santos, Ferraiuolo, Laura, Hornstein, Eran, Shelkovnikova, Tatyana, van Dijk, Charlotte H, Timpanaro, Ilia S, Kenna, Kevin P, Zeng, Jianyang, Tsao, Philip S, Shaw, Pamela J, Ichida, Justin K, Cooper-Knock, Johnathan, Snyder, Michael P
Published in medRxiv : the preprint server for health sciences (01.04.2024)
Published in medRxiv : the preprint server for health sciences (01.04.2024)
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Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity
Zhang, Sai, Cooper-Knock, Johnathan, Weimer, Annika K, Harvey, Calum, Julian, Thomas H, Wang, Cheng, Li, Jingjing, Furini, Simone, Frullanti, Elisa, Fava, Francesca, Renieri, Alessandra, Pan, Cuiping, Song, Jina, Billing-Ross, Paul, Gao, Peng, Shen, Xiaotao, Timpanaro, Ilia Sarah, Kenna, Kevin P, Davis, Mark M, Tsao, Philip S, Snyder, Michael P
Published in medRxiv : the preprint server for health sciences (21.06.2021)
Published in medRxiv : the preprint server for health sciences (21.06.2021)
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Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
Wouter Van Rheenen, Pulit, Sara L, Dekker, Annelot M, Ahmad Al Khleifat, Brands, William J, Iacoangeli, Alfredo, Kenna, Kevin P, Kavak, Ersen, Kooyman, Maarten, McLaughlin, Russell L, Middelkoop, Bas, Moisse, Matthieu, Schellevis, Raymond D, Shatunov, Aleksey, Sproviero, William, Tazelaar, Gijs H P, Rick A A Van der Spek, Perry T C Van Doormaal, Van Eijk, Kristel R, Joke Van Vugt, Basak, A Nazli, Blair, Ian P, Glass, Jonathan D, Hardiman, Orla, Hide, Winston, Landers, John E, Mora, Jesus S, Morrison, Karen E, Newhouse, Stephen, Robberecht, Wim, Shaw, Christopher E, Shaw, Pamela J, Philip Van Damme, Van Es, Michael A, Wray, Naomi R, Al-Chalabi, Ammar, Leonard H Van den Berg, Veldink, Jan H
Published in European journal of human genetics : EJHG (01.10.2018)
Published in European journal of human genetics : EJHG (01.10.2018)
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