المؤلفون: Marriott, Heather, Spargo, Thomas P., Al Khleifat, Ahmad, Andersen, Peter M., 1962, Başak, Nazli A., Cooper-Knock, Johnathan, Corcia, Philippe, Couratier, Philippe, de Carvalho, Mamede, Drory, Vivian, Gotkine, Marc, Landers, John E., McLaughlin, Russell, Pardina, Jesús 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

المصدر: Annals of Clinical and Translational Neurology. 11(7):1775-1786

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-226966
https://doi.org/10.1002/acn3.52083
https://umu.diva-portal.org/smash/get/diva2:1876294/FULLTEXT02.pdf

المؤلفون: Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M., 1962, Weber, Markus, Başak, Nazli A., Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., van Es, Michael A., van den Berg, Leonard H., Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip

المصدر: Brain. 146(9):3760-3769

مصطلحات موضوعية: complex genetic disease, motor neuron disease, oligogenic inheritance

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214248
https://doi.org/10.1093/brain/awad120
https://umu.diva-portal.org/smash/get/diva2:1798190/FULLTEXT01.pdf

المؤلفون: Saez-Atienzar, Sara, Souza, Cleide dos Santos, Chia, Ruth, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Ding, Jinhui, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Peverelli, Silvia, Corrado, Lucia, van Vugt, Joke J. F. A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J. B., Dalgard, Clifton L., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., van den Berg, Leonard H., D'Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O'Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., Ferraiuolo, Laura

المساهمون: Saez-Atienzar, Sara, Souza, Cleide dos Santo, Chia, Ruth, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Ding, Jinhui, Gibbs, J. Raphael, Jones, Ashley, Dewan, Ramita, Pensato, Viviana, Peverelli, Silvia, Corrado, Lucia, van Vugt, Joke J. F. A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexi, Broach, Jame, Camu, William, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, Macgowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia

مصطلحات موضوعية: C9orf72, acamprosate, age at onset, amyotrophic lateral sclerosi, drug repurposing, frontotemporal dementia, translation

Relation: info:eu-repo/semantics/altIdentifier/pmid/39437787; firstpage:1; lastpage:16; journal:CELL GENOMICS; https://hdl.handle.net/11380/1362846

الاتاحة: https://hdl.handle.net/11380/1362846
https://doi.org/10.1016/j.xgen.2024.100679

المؤلفون: 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, Damme, Philip Van, 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.

المصدر: Nature Communications ; volume 15, issue 1 ; ISSN 2041-1723

الاتاحة: https://doi.org/10.1038/s41467-024-49938-y
https://www.nature.com/articles/s41467-024-49938-y.pdf
https://www.nature.com/articles/s41467-024-49938-y

المؤلفون: 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, Mora Pardina, Jesus S, Povedano Panades, Mónica, Andersen, Peter M, Weber, Markus, Başak, 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

المساهمون: Neurology

المصدر: Frontiers in cellular neuroscience ; 17 ; 1112405 ; United Kingdom ; Switzerland

مصطلحات موضوعية: ALS (Amyotrophic lateral sclerosis), CAV1 and CAV2, Cav, caveolin, differential expression analysis (DEA), enhancer variant, neurodegeneration, survival analysis

Relation: This article is based on a previously available preprint in medRxiv, https://doi.org/10.1101/2022.11.04.22281798.; Frontiers in Cellular Neuroscience; https://doi.org/10.3389/fncel.2023.1112405; Adey BN, Cooper-Knock J, Al Khleifat A, Fogh I, van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M, Drory V, Silani V, Ticozzi N, Veldink JH, van den Berg LH, de Carvalho M, Pinto S, Mora Pardina JS, Povedano Panades M, Andersen PM, Weber M, Başak NA, Shaw CE, Shaw PJ, Morrison KE, Landers JE, Glass JD, Vourc'h P, Dobson RJB, Breen G, Al-Chalabi A, Jones AR, Iacoangeli A. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Front Cell Neurosci. 2023 Mar 2;17:1112405. doi:10.3389/fncel.2023.1112405. PMID: 36937187; PMCID: PMC10017967.; http://hdl.handle.net/20.500.14038/53445

الاتاحة: https://doi.org/10.3389/fncel.2023.1112405
https://hdl.handle.net/20.500.14038/53445

المؤلفون: Funes, Salome, Jung, Jonathan, Gadd, Del Hayden, Mosqueda, Michelle, Zhong, Jianjun, Shankaracharya, Unger, Matthew, Stallworth, Karly, Cameron, Debra, Rotunno, Melissa S, Dawes, Pepper, Fowler-Magaw, Megan, Keagle, Pamela J, McDonough, Justin A, Boopathy, Sivakumar, Sena-Esteves, Miguel, Nickerson, Jeffrey A, Lutz, Cathleen, Skarnes, William C, Lim, Elaine T, Schafer, Dorothy P, Massi, Francesca, Landers, John E, Bosco, Daryl A

المساهمون: Biochemistry and Molecular Biotechnology, Brudnick Neuropsychiatric Research Institute, Genomics and Computational Biology, Horae Gene Therapy Center, Microbiology and Physiological Systems, Molecular, Cell and Cancer Biology, Morningside Graduate School of Biomedical Sciences, Neurobiology, Neurology, Pediatrics, Schafer Lab, Salome Funes, Michelle Mosqueda, Jonathan Jung, Matthew Unger

المصدر: Nature communications ; 15 ; 1 ; 2497 ; United States ; England

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Microglia

Relation: This article is based on a previously available preprint in bioRxiv, https://doi.org/10.1101/2023.06.01.541136; Nature Communications; https://doi.org/10.1038/s41467-024-46695-w; Funes S, Jung J, Gadd DH, Mosqueda M, Zhong J, Shankaracharya, Unger M, Stallworth K, Cameron D, Rotunno MS, Dawes P, Fowler-Magaw M, Keagle PJ, McDonough JA, Boopathy S, Sena-Esteves M, Nickerson JA, Lutz C, Skarnes WC, Lim ET, Schafer DP, Massi F, Landers JE, Bosco DA. Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia. Nat Commun. 2024 Mar 20;15(1):2497. doi:10.1038/s41467-024-46695-w. PMID: 38509062; PMCID: PMC10954694.; http://hdl.handle.net/20.500.14038/53350

الاتاحة: https://doi.org/10.1038/s41467-024-46695-w
https://hdl.handle.net/20.500.14038/53350

المؤلفون: 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, Damme, Philip Van, 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

المساهمون: Neurology

المصدر: Nature communications ; 13 ; 1 ; 6901 ; United States ; United Kingdom ; England

مصطلحات موضوعية: Medical genetics

Relation: Nature Communications; https://doi.org/10.1038/s41467-022-34620-y; Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nat Commun. 2022 Nov 12;13(1):6901. doi:10.1038/s41467-022-34620-y. PMID: 36371497; PMCID: PMC9653399.; http://hdl.handle.net/20.500.14038/53237

الاتاحة: https://doi.org/10.1038/s41467-022-34620-y
https://hdl.handle.net/20.500.14038/53237

المؤلفون: Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A, Stein, Thor D, Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S, Portley, Makayla K, Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, FNU, Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L, Johansson, Per M, Nilsson, Christer F, Rowe, James B, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D, Singleton, Andrew B, Silani, Vincenzo, Ross, Owen A, Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M, Pickering-Brown, Stuart, Brady, Christopher B, Kowal, Neil, Hardy, John A, Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matt, Morris, Christopher M, Ferrari, Raffaele, Landers, John E, Chiò, Adriano, Gibbs, Jesse Raphael, Dalgard, Clifton L, Scholz, Sonja W, Traynor, Bryan J, Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N, Martinez, Elisa McGrath, Pollard, Harvey B, Sukumar, Gauthaman, Soltis, Anthony R, Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Kost, Jason, Scotter, Emma L, Kenna, Kevin P, Miller, Jack W, Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W, Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A, King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, Asbroek, Anneloor LMA ten, Sapp, Peter C, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter

المصدر: Neuron. 109(3)

مصطلحات موضوعية: Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Neurodegenerative, Acquired Cognitive Impairment, Dementia, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), ALS, Rare Diseases, Brain Disorders, Neurosciences, Huntington's Disease, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, DNA Repeat Expansion, Frontotemporal Dementia, Humans, Huntingtin Protein, Mutation, Whole Genome Sequencing, American Genome Center, FALS Sequencing Consortium, Genomics England Research Consortium, International ALS/FTD Genomics Consortium, International FTD Genetics Consortium, International LBD Genomics Consortium, NYGC ALS Consortium, PROSPECT Consortium, amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/01n02333

المؤلفون: 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, 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, Gagliardi, Stella, 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., 1962, 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.

المصدر: Nature Genetics. 53(12):1636-1648

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-191609
https://doi.org/10.1038/s41588-021-00973-1
https://umu.diva-portal.org/smash/get/diva2:1630308/FULLTEXT01.pdf

المؤلفون: Moisse, Matthieu, Zwamborn, Ramona A. J., van Vugt, Joke, van Der Spek, Rick, van Rheenen, Wouter, Kenna, Brendan, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, de Carvalho, Mamede, Mora Pardina, Jesús S., Povedano, Monica, Andersen, Peter M., 1962, Weber, Markus, Basak, Nazli A., Chen, Xiao, Eberle, Michael A., Al-Chalabi, Ammar, Shaw, Chris, Shaw, Pamela J., Morrison, Karen E., Landers, John E., Glass, Jonathan D., Robberecht, Wim, van Es, Michael, van den Berg, Leonard, Veldink, Jan, Van Damme, Philip

المصدر: Annals of Neurology. 89(4):686-697

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-179430
https://doi.org/10.1002/ana.26009
https://umu.diva-portal.org/smash/get/diva2:1525569/FULLTEXT02.pdf

المؤلفون: Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L, Collins, Ryan L, Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Masellis, Mario, Keith, Julia, Black, Sandra E, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M, Ghetti, Bernardino, Landers, John E, Ryten, Mina, Morris, Huw R, Hardy, John A, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E, Beach, Thomas G, Ferman, Tanis, Graff-Radford, Neill R, Boeve, Bradley F, Wszolek, Zbigniew K, Dickson, Dennis W, Chiò, Adriano, Bennett, David A, De Jager, Philip L, Ross, Owen A, Dalgard, Clifton L, Gibbs, J Raphael, Traynor, Bryan J, Scholz, Sonja W

المساهمون: Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vila, Walton, Ronald L, Collins, Ryan L, Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Masellis, Mario, Keith, Julia, Black, Sandra E, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M, Ghetti, Bernardino, Landers, John E, Ryten, Mina, Morris, Huw R, Hardy, John A, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E, Beach, Thomas G, Ferman, Tani, Graff-Radford, Neill R, Boeve, Bradley F, Wszolek, Zbigniew K, Dickson, Dennis W, Chiò, Adriano, Bennett, David A, De Jager, Philip L, Ross, Owen A, Dalgard, Clifton L, Gibbs, J Raphael, Traynor, Bryan J, Scholz, Sonja W

مصطلحات موضوعية: Lewy body dementia, amyotrophic lateral sclerosi, case-control study, frontotemporal dementia, genome-wide association study, non–Alzheimer's dementia, resource, structural variant

Relation: info:eu-repo/semantics/altIdentifier/pmid/37388914; volume:3; issue:6; firstpage:100316; lastpage:100326; numberofpages:11; journal:CELL GENOMICS; https://hdl.handle.net/2318/1919190; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161957826

الاتاحة: https://hdl.handle.net/2318/1919190
https://doi.org/10.1016/j.xgen.2023.100316

المؤلفون: Zhang, Hong, Tong, Tiejun, Landers, John E, Wu, Zheyang

مصطلحات موضوعية: Statistics - Methodology

URL الوصول: http://arxiv.org/abs/1801.04309

المؤلفون: 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, Mora Pardina, Jesus S, Povedano Panades, Mónica, Andersen, Peter M, Weber, Markus, Başak, 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

المساهمون: Neurologen, Brain, Genetic Risks, Projectafdeling ALS, Regenerative Medicine and Stem Cells

مصطلحات موضوعية: ALS (Amyotrophic lateral sclerosis), CAV1 and CAV2, Cav, caveolin, differential expression analysis (DEA), enhancer variant, neurodegeneration, survival analysis, Cellular and Molecular Neuroscience

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/448868

الاتاحة: https://dspace.library.uu.nl/handle/1874/448868

المؤلفون: Baron, Desiree M, Fenton, Adam R, Saez-Atienzar, Sara, Giampetruzzi, Anthony, Sreeram, Aparna, Shankaracharya, Keagle, Pamela J, Doocy, Victoria R, Smith, Nathan J, Danielson, Eric W, Andresano, Megan, McCormack, Mary C, Garcia, Jaqueline, Bercier, Valérie, Van Den Bosch, Ludo, Brent, Jonathan R, Fallini, Claudia, Traynor, Bryan J, Holzbaur, Erika L F, Landers, John E

المساهمون: Morningside Graduate School of Biomedical Sciences, Neurology, Aparna Sreeram

المصدر: Cell reports ; 39 ; 1 ; 110598 ; United States

مصطلحات موضوعية: ALS, CP: Neuroscience, KIF5A, amyotrophic lateral sclerosis, autoinhibition, axonal transport, kinesin, neurodegenerative disease, neuronal survival

Relation: Cell Reports; https://doi.org/10.1016/j.celrep.2022.110598; Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, Keagle PJ, Doocy VR, Smith NJ, Danielson EW, Andresano M, McCormack MC, Garcia J, Bercier V, Van Den Bosch L, Brent JR, Fallini C, Traynor BJ, Holzbaur ELF, Landers JE. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep. 2022 Apr 5;39(1):110598. doi:10.1016/j.celrep.2022.110598. PMID: 35385738; PMCID: PMC9134378.; http://hdl.handle.net/20.500.14038/52473

الاتاحة: https://doi.org/10.1016/j.celrep.2022.110598
https://hdl.handle.net/20.500.14038/52473

المؤلفون: Simkin, Dina, Papakis, Vasileios, Bustos, Bernabe I, Ambrosi, Christina M, Ryan, Steven J, Baru, Valeriya, Williams, Luis A, Dempsey, Graham T, McManus, Owen B, Landers, John E, Lubbe, Steven J, George, Alfred L, Kiskinis, Evangelos

المساهمون: Neurology

المصدر: Stem cell reports ; 17 ; 4 ; 993 ; 1008 ; United States

مصطلحات موضوعية: CRISPR/Cas9, KCNQ2, WGS, disease modeling, genome editing, iPSCs, isogenic control lines, mtDNA, on-target insertions/deletions

Relation: Stem Cell Reports; https://doi.org/10.1016/j.stemcr.2022.02.008; Simkin D, Papakis V, Bustos BI, Ambrosi CM, Ryan SJ, Baru V, Williams LA, Dempsey GT, McManus OB, Landers JE, Lubbe SJ, George AL Jr, Kiskinis E. Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls. Stem Cell Reports. 2022 Apr 12;17(4):993-1008. doi:10.1016/j.stemcr.2022.02.008. Epub 2022 Mar 10. PMID: 35276091; PMCID: PMC9023783.; http://hdl.handle.net/20.500.14038/52437

الاتاحة: https://doi.org/10.1016/j.stemcr.2022.02.008
https://hdl.handle.net/20.500.14038/52437

المؤلفون: Straniero, Letizia, Rimoldi, Valeria, Monfrini, Edoardo, Bonvegna, Salvatore, Melistaccio, Giada, Lake, Julie, Soldà, Giulia, Aureli, Massimo, Shankaracharya, Keagle, Pamela, Foroud, Tatiana, Landers, John E, Blauwendraat, Cornelis, Zecchinelli, Anna, Cilia, Roberto, Di Fonzo, Alessio, Pezzoli, Gianni, Duga, Stefano, Asselta, Rosanna

المساهمون: Neurology

المصدر: Movement disorders : official journal of the Movement Disorder Society ; 37 ; 6 ; 1202 ; 1210 ; United States

مصطلحات موضوعية: Parkinson’s disease, GBA, lysosomal genes, mutation burden

Relation: Movement Disorders; https://doi.org/10.1002/mds.28987; Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Soldà G, Aureli M, Shankaracharya, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk. Mov Disord. 2022 Jun;37(6):1202-1210. doi:10.1002/mds.28987. Epub 2022 Mar 9. PMID: 35262230; PMCID: PMC9310717.; http://hdl.handle.net/20.500.14038/52406; Movement disorders : official journal of the Movement Disorder Society

الاتاحة: https://doi.org/10.1002/mds.28987
https://hdl.handle.net/20.500.14038/52406

المؤلفون: Al Khleifat, Ahmad, Iacoangeli, Alfredo, van Vugt, Joke J F A, Bowles, Harry, Moisse, Matthieu, Zwamborn, Ramona A J, van der Spek, Rick A A, Shatunov, Aleksey, Cooper-Knock, Johnathan, Topp, Simon, Byrne, Ross, Gellera, Cinzia, López, Victoria, Jones, Ashley R, Opie-Martin, Sarah, Vural, Atay, Campos, Yolanda, Van Rheenen, Wouter, Kenna, Brendan, van Eijk, Kristel R, Kenna, Kevin, 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 P, 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

المساهمون: Neurology

المصدر: NPJ genomic medicine ; 7 ; 1 ; 8 ; United Kingdom ; United States ; England

مصطلحات موضوعية: Amyotrophic lateral sclerosis, Comparative genomics

Relation: NPJ Genomic Medicine; https://doi.org/10.1038/s41525-021-00267-9; Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ Genom Med. 2022 Jan 28;7(1):8. doi:10.1038/s41525-021-00267-9. PMID: 35091648; PMCID: PMC8799638.; http://hdl.handle.net/20.500.14038/52263

الاتاحة: https://doi.org/10.1038/s41525-021-00267-9
https://hdl.handle.net/20.500.14038/52263

المؤلفون: 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, López, 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

المساهمون: Neurology

المصدر: Frontiers in cellular neuroscience ; 16 ; 1050596 ; United Kingdom ; United States ; Switzerland

مصطلحات موضوعية: MND–motor neuron disorders, amyotrophic lateral sclerosis (ALS), bigdata, genomics, telomere–genetics, whole genome sequence (WGS)

Relation: Frontiers in Cellular Neuroscience; https://doi.org/10.3389/fncel.2022.1050596; Al Khleifat A, Iacoangeli A, Jones AR, van Vugt JJFA, Moisse M, Shatunov A, Zwamborn RAJ, van der Spek RAA, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Front Cell Neurosci. 2022 Dec 15;16:1050596. doi:10.3389/fncel.2022.1050596. PMID: 36589292; PMCID: PMC9799999.; http://hdl.handle.net/20.500.14038/52107

الاتاحة: https://doi.org/10.3389/fncel.2022.1050596
https://hdl.handle.net/20.500.14038/52107

المؤلفون: 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, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc, Lerner, Yossef, Zabari, Michal, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Mora Pardina, Jesus S, 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, Heijmans, Bastiaan T, T Hoen, Peter A C, van Meurs, Joyce, Jansen, Rick, Franke, Lude, Boomsma, Dorret I, Pool, Rene, van Dongen, Jenny, Hottenga, Joukje J, van Greevenbroek, Marleen M J, Stehouwer, Coen D A, van der Kallen, Carla J H, Schalkwijk, Casper G, Wijmenga, Cisca, Zhernakova, Sasha, Tigchelaar, Ettje F, Slagboom, P Eline, Beekman, Marian, Deelen, Joris, van Heemst, Diana, van Duijn, Cornelia M, Hofman, Bert A, Isaacs, Aaron, Uitterlinden, Andre G, Jhamai, P Mila, Verbiest, Michael, Suchiman, H Eka D, Verkerk, Marijn, van der Breggen, Ruud, van Rooij, Jeroen, Lakenberg, Nico, Mei, Hailiang, van Iterson, Maarten, van Galen, Michiel, Bot, Jan, Zhernakova, Dasha V, van 't Hof, Peter, Deelen, Patrick, Nooren, Irene, Moed, Matthijs, Vermaat, Martijn, Luijk, Rene, Jan Bonder, Marc, van Dijk, Freerk, Arindrarto, Wibowo, Kielbasa, Szymon M, Swertz, Morris A, van Zwet, Erik W, Bensimon, Gilbert, Chio, Adriano, Smith, George Davey

المساهمون: Hop, Paul J, Zwamborn, Ramona A J, Hannon, Eili, 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, Deni, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Ticozzi, Nicola, Ratti, Antonia, Cooper-Knock, Jonathan, Morrison, Karen E, Shaw, Pamela J, Basak, A Nazli, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Brunetti, Maura, Grassano, Maurizio, Gotkine, Marc, Lerner, Yossef, Zabari, Michal, Vourc'h, Patrick, Corcia, Philippe, Couratier, Philippe, Mora Pardina, Jesus S, 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, Marku, 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, Heijmans, Bastiaan T, T Hoen, Peter A C, van Meurs, Joyce, Jansen, Rick, Franke, Lude, Boomsma, Dorret I, Pool, Rene, van Dongen, Jenny, Hottenga, Joukje J, van Greevenbroek, Marleen M J, Stehouwer, Coen D A, van der Kallen, Carla J H, Schalkwijk, Casper G, Wijmenga, Cisca, Zhernakova, Sasha, Tigchelaar, Ettje F

Relation: info:eu-repo/semantics/altIdentifier/pmid/35196023; info:eu-repo/semantics/altIdentifier/wos/WOS:000760127200002; volume:14; issue:633; firstpage:1; lastpage:15; numberofpages:15; journal:SCIENCE TRANSLATIONAL MEDICINE; https://hdl.handle.net/2318/1847555; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128472001

الاتاحة: https://hdl.handle.net/2318/1847555
https://doi.org/10.1126/scitranslmed.abj0264
https://www.science.org/doi/10.1126/scitranslmed.abj0264?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub 0pubmed

المؤلفون: Adey, Brett N, Cooper-Knock, Johnathan, Khleifat, Ahmad Al, 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, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter M., Weber, Markus, Başak, Nazli A., Shaw, Christopher E, Shaw, Pamela J., Morrison, Karen E., Landers, John E, Glass, Jonathan D., Vourc’h, Patrick, Dobson, Richard JB, Breen, Gerome, Al-Chalabi, Ammar, Jones, Ashley R, Iacoangeli, Alfredo

المساهمون: Neurology

المصدر: medRxiv

مصطلحات موضوعية: Genetic and Genomic Medicine, amyotrophic lateral sclerosis

Relation: Now published in Frontiers in Cellular Neuroscience doi:10.3389/fncel.2023.1112405; medRxiv; https://doi.org/10.1101/2022.11.04.22281798; http://hdl.handle.net/20.500.14038/51627

الاتاحة: https://doi.org/10.1101/2022.11.04.22281798
https://hdl.handle.net/20.500.14038/51627