المساهمون: Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), 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, 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, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: Frontiers in Cellular Neuroscience

مصطلحات موضوعية: Neurosciences, ALS (Amyotrophic lateral sclerosis), Cav, CAV1 and CAV2, Caveolin, Differential expression analysis (DEA), Enhancer variant, Neurodegeneration, Survival analysis

وصف الملف: pdf

العلاقة: Publisher version; Koç University Institutional Repository; IR04290; Adey, Brett N., et al. “Large-scale analyses of Cav1 and Cav2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.” Frontiers in Cellular Neuroscience, vol. 17, 2 Mar. 2023, https://doi.org/10.3389/fncel.2023.1112405Test.; https://dx.doi.org/10.3389/fncel.2023.1112405Test; WoS; Scopus; Pubmed; NA; EU; http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11173Test

الإتاحة: https://doi.org/10.3389/fncel.2023.1112405Test
http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11173Test

المساهمون: Vural, Atay (ORCID 0000-0003-3222-874X & YÖK ID 182369), Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Weber, Markus, 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, Campos, Yolanda, 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., Hardiman, Orla, Robberecht, Wim, Van Damme, Philip, van den Berg, Leonard H., Veldink, Jan H., Al-Chalabi, Ammar, the Project MinE Consortium, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: Frontiers in Cellular Neuroscience

مصطلحات موضوعية: Neurosciences and neurology, Amyotrophic lateral sclerosis (ALS), Bigdata, Genomics, MND–motor neuron disorders, Telomere–genetics, Whole genome sequence (WGS)

وصف الملف: pdf

العلاقة: Publisher version; Koç University Institutional Repository; IR04179; Ahmad Al et al. “Telomere Length Analysis in Amyotrophic Lateral Sclerosis Using Large-Scale Whole Genome Sequence Data.” Frontiers in Cellular Neuroscience 2022 https://doi.org/10.3389/fncel.2022.1050596Test.; https://dx.doi.org/10.3389/fncel.2022.1050596Test; WoS; Scopus; PubMed; 259867; 633413; 772376EScORIAL; EU; http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11055Test

الإتاحة: https://doi.org/10.3389/fncel.2022.1050596Test
http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11055Test

المساهمون: Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Palvadeau, Robin, Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Lacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Jr, Robert H. Brown, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna, I., Landers, John E., Chio, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine

المصدر: JAMA Neurology

مصطلحات موضوعية: Neurosciences and neurology, Hereditary sensory neuropathy, L-serine, Mutations, Deoxysphingolipids, Accumulation

وصف الملف: pdf

العلاقة: Publisher version; Koç University Institutional Repository; Johnson, Janel O., Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon D. Topp, J. Raphael Gibbs, Mark R. Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson-Stone, John B. Kwok, Emily S. Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen E. Morrison, Pamela J. Shaw, Ammar Al-Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazli Basak, John E. Landers, Adriano Chiò, Thomas O. Crawford, Bradley N. Smith, Bryan J. Traynor, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon D. Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L. Ten Asbroek, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, Zorica Stevic, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter Van Rheenen, Rosa Rademakers, Marka Van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen E. Morrison, Jan H. Veldink, Leonard H. Van Den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Clifton L. Dalgard, Adelani Adeleye, Anthony R. Soltis, Camille Alba, Coralie Viollet, Dagmar Bacikova, Daniel N. Hupalo, Gauthaman Sukumar, Harvey B. Pollard, Matthew D. Wilkerson, Elisa McGrath Martinez, Yevgeniya Abramzon, Sarah Ahmed, Sampath Arepalli, Robert H. Baloh, Robert Bowser, Christopher B. Brady, Alexis Brice, James Broach, Roy H. Campbell, William Camu, Ruth Chia, John Cooper-Knock, Jinhui Ding, Carsten Drepper, Vivian E. Drory, Travis L. Dunckley, John D. Eicher, Bryce K. England, Faraz Faghri, Eva Feldman, Mary Kay Floeter, Pietro Fratta, Joshua T. Geiger, Glenn Gerhard, J. Raphael Gibbs, Summer B. Gibson, Jonathan D. Glass, John Hardy, Matthew B. Harms, Terry D. Heiman-Patterson, Dena G. Hernandez, Lilja Jansson, Janine Kirby, Neil W. Kowall, Hannu Laaksovirta, Natalie Landeck, Francesco Landi, Isabelle Le Ber, Serge Lumbroso, Daniel J. MacGowan, Nicholas J. Maragakis, Gabriele Mora, Kevin Mouzat, Natalie A. Murphy, Liisa Myllykangas, Mike A. Nalls, Richard W. Orrell, Lyle W. Ostrow, Roger Pamphlett, Stuart Pickering-Brown, Erik P. Pioro, Olga Pletnikova, Hannah A. Pliner, Stefan M. Pulst, John M. Ravits, Alan E. Renton, Alberto Rivera, Wim Robberecht, Ekaterina Rogaeva, Sara Rollinson, Jeffrey D. Rothstein, Sonja W. Scholz, Michael Sendtner, Pamela J. Shaw, Katie C. Sidle, Zachary Simmons, Andrew B. Singleton, Nathan Smith, David J. Stone, Pentti J. Tienari, Juan C. Troncoso, Miko Valori, Philip Van Damme, Vivianna M. Van Deerlin, Ludo Van Den Bosch, Lorne Zinman, John E. Landers, Adriano Chiò, Bryan J. Traynor, Stefania M. Angelocola, Francesco P. Ausiello, Marco Barberis, Ilaria Bartolomei, Stefania Battistini, Enrica Bersano, Giulia Bisogni, Giuseppe Borghero, Maura Brunetti, Corrado Cabona, Andrea Calvo, Fabrizio Canale, Antonio Canosa, Teresa A. Cantisani, Margherita Capasso, Claudia Caponnetto, Patrizio Cardinali, Paola Carrera, Federico Casale, Adriano Chiò, Tiziana Colletti, Francesca L. Conforti, Amelia Conte, Elisa Conti, Massimo Corbo, Stefania Cuccu, Eleonora Dalla Bella, Eustachio D’Errico, Giovanni DeMarco, Raffaele Dubbioso, Carlo Ferrarese, Pilar M. Ferraro, Massimo Filippi, Nicola Fini, Gianluca Floris, Giuseppe Fuda, Salvatore Gallone, Giulia Gianferrari, Fabio Giannini, Maurizio Grassano, Lucia Greco, Barbara Iazzolino, Alessandro Introna, Vincenzo La Bella, Serena Lattante, Giuseppe Lauria, Rocco Liguori, Giancarlo Logroscino, Francesco O. Logullo, Christian Lunetta, Paola Mandich, Jessica Mandrioli, Umberto Manera, Fiore Manganelli, Giuseppe Marangi, Kalliopi Marinou, Maria Giovanna Marrosu, Ilaria Martinelli, Sonia Messina, Cristina Moglia, Gabriele Mora, Lorena Mosca, Maria R. Murru, Paola Origone, Carla Passaniti, Cristina Petrelli, Antonio Petrucci, Susanna Pozzi, Maura Pugliatti, Angelo Quattrini, Claudia Ricci, Giulia Riolo, Nilo Riva, Massimo Russo, Mario Sabatelli, Paolina Salamone, Marco Salivetto, Fabrizio Salvi, Marialuisa Santarelli, Luca Sbaiz, Riccardo Sideri, Isabella Simone, Cecilia Simonini, Rossella Spataro, Raffaella Tanel, Gioacchino Tedeschi, Anna Ticca, Antonella Torriello, Stefania Tranquilli, Lucio Tremolizzo, Francesca Trojsi, Rosario Vasta, Veria Vacchiano, Giuseppe Vita, Paolo Volanti, Marcella Zollino, and Elisabetta Zucchi. ""Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis."" JAMA Neurology 78.10 (2021): 1236.; https://dx.doi.org/10.1001/jamaneurol.2021.2598Test; IR03157.pdf; /HGULER; WoS; Scopus; PubMed; Z01-AG000949-02; ZIA-NS03154; 20-SI-508; RF-2016-02362405; 2017SNW5MB; 259867; 278611; 018947; QLG2-CT-2002-01254; R35 NS097261; R01 NS017950; R01NS073873; R56NS073873; 1095215; 1092023; MR/L501529/1; MR/R024804/1; 1138223; 1095127; U01 AG032984; R01 AG033193; R01 AG054076; R01 AG049607; R01 AG033040; HL105756; RC2HL102419; R01AG033193; P20545-P05; P13180; 827462; 15435; HHSN268201100005C; HHSN268201100006C; HHSN268201100007C; HHSN268201100008C; HHSN268201100009C; HHSN268201100010C; HHSN268201100011C; HHSN268201100012C; U01 2U01HL096812; 2U01HL096814; 2U01HL096899; 2U01HL096902; 2U01HL096917; R01-HL70825; HHSN268201200036C; HHSN268200800007C; N01HC55222; N01HC85079; N01HC85080; N01HC85081; N01HC85082; N01HC85083; N01HC85086; U01HL080295; U01HL130114; R01AG023629; R01AG15928; R01AG20098; N01-HC-25195; HHSN268201500001I; NWO-RFBR 047.017.043; 175.010.2005.011; 911-03-012; 014-93-015; RIDE2; 050-060-810; U54 HG003273; U54HG003067; U01AG057659; U54HG003079; U24AG021886; U01AG016976; U24AG041689; phs000572; RF-201302355764; 2005-2023; IAA-A-HL-007.001; UF1AG047133; U01AG049505; U01AG049506; U01AG049507; U01AG049508; U01AG052411; U01AG052410; U01 AG052409; U54AG052427; EU; http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/9800Test

الإتاحة: https://doi.org/10.1001/jamaneurol.2021.2598Test
http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/9800Test