المؤلفون: Kaivola, K, Chia, R, Ding, J, Rasheed, M, Fujita, M, Menon, V, Walton, RL, Collins, RL, Billingsley, K, Brand, H, Talkowski, M, Zhao, X, Dewan, R, Stark, A, Ray, A, Solaiman, S, Alvarez Jerez, P, Malik, L, Dawson, TM, Rosenthal, LS, Albert, MS, Pletnikova, O, Troncoso, JC, Masellis, M, Keith, J, Black, SE, Ferrucci, L, Resnick, SM, Tanaka, T, Soltis, AR, Viollet, C, Sukumar, G, Alba, C, Lott, N, McGrath Martinez, E, Tuck, M, Singh, J, Bacikova, D, Zhang, X, Hupalo, DN, Adeleye, A, Wilkerson, MD, Pollard, HB, Dalgard, CL, Gan-Or, Z, Rogaeva, E, Brice, A, Lesage, S, Xiromerisiou, G, Calvo, A, Canosa, A, Chio, A, Logroscino, G, Mora, G, Krüger, R, May, P, Alcolea, D, Clarimon, J, Fortea, J, Gonzalez-Aramburu, I, Infante, J, Lage, C, Lleó, A, Pastor, P, Sanchez-Juan, P, Brett, F, Aarsland, D, Al-Sarraj, S, Attems, J, Gentleman, S, Hardy, JA, Hodges, AK, Love, S, McKeith, IG, Morris, CM, Morris, HR, Palmer, L, Pickering-Brown, S, Ryten, M, Thomas, AJ, Troakes, C, Barrett, MJ, Beach, TG, Bekris, LM, Bennett, DA, Boeve, BF, Dickson, DW, Faber, K, Ferman, T, Flanagan, ME, Foroud, TM, Ghetti, B, Gibbs, JR, Goate, A, Goldstein, DS, Graff-Radford, NR, Kaufmann, H, Kukull, WA, Leverenz, JB, Lopez, G

المصدر: Cell Genomics , 3 (6) , Article 100316. (2023)

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

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172559/1/1-s2.0-S2666979X23000848-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172559Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10172559/1/1-s2.0-S2666979X23000848-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10172559Test/

المؤلفون: Johnson J. O., Chia R., Miller D. E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A. E., Topp S. D., Gibbs J. R., Cookson M. R., Sabir M. S., Dalgard C. L., Troakes C., Jones A. R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I. P., Dobson-Stone C., Kwok J. B., Bonkowski E. S., Palvadeau R., Tienari P. J., Morrison K. E., Shaw P. J., Al-Chalabi A., Brown R. H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I. J., Perlman S. J., Glass I., Scott A. I., Shaw C. E., Basak A. N., Landers J. E., Chio A., Crawford T. O., Smith B. N., Traynor B. J., Fallini C., Gkazi A. S., Scotter E. L., Kenna K. P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A. L. M. A., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Leblond-Manry C., Rouleau G. A., Hardiman O., Veldink J. H., Van Den Berg L. H., Pall H., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J. D., Ratti A., Adeleye A., Soltis A. R., Alba C., Viollet C., Bacikova D., Hupalo D. N., Sukumar G., Pollard H. B., Wilkerson M. D., Martinez E. M., Ahmed S., Arepalli S., Baloh R. H., Bowser R., Brady C. B., Brice A., Broach J., Campbell R. H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V. E., Dunckley T. L., Eicher J. D., England B. K., Faghri F., Feldman E., Floeter M. K., Fratta P., Geiger J. T., Gerhard G., Gibson S. B., Hardy J., Harms M. B., Heiman-Patterson T. D., Hernandez D. G., Jansson L., Kirby J., Kowall N. W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D. J. L., Maragakis N. J., Mouzat K., Murphy N. A., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pickering-Brown S., Pioro E. P., Pletnikova O., Pliner H. A., Pulst S. M., Ravits J. M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J. D., Scholz S. W., Sendtner M., Sidle K. C., Simmons Z., Singleton A. B., Smith N., Stone D. J., Troncoso J. C., Valori M., Van Damme P., Van Deerlin V. M., Van Den Bosch L., Zinman L., Angelocola S. M., Ausiello F. P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T. A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F. L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P. M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F. O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M. G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M. R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E.

المساهمون: Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R.

مصطلحات موضوعية: Adolescent, Adult, Amyotrophic Lateral Sclerosi, Child, Preschool, Female, Genetic Predisposition to Disease, Human, Mutation, Serine C-Palmitoyltransferase, Whole Exome Sequencing, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34459874; info:eu-repo/semantics/altIdentifier/wos/WOS:000692566100005; volume:78; issue:10; firstpage:1236; lastpage:1248; numberofpages:13; journal:JAMA NEUROLOGY; http://hdl.handle.net/11365/1181203Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114289450; https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test; https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/

الإتاحة: https://doi.org/10.1001/jamaneurol.2021.2598Test
http://hdl.handle.net/11365/1181203Test
https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test
https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/

المؤلفون: Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, 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, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdfTest; Johnson, JO, Chia, R, Miller, DE et al. (295 more authors) (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurology, 78 (10). pp. 1236-1248. ISSN 2168-6149

الإتاحة: https://eprints.whiterose.ac.uk/180985Test/
https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdfTest

المؤلفون: Dewan R., Chia R., Ding J., Hickman R. A., Stein T. D., Abramzon Y., Ahmed S., Sabir M. S., Portley M. K., Tucci A., Ibanez K., Shankaracharya F. N. U., Keagle P., Rossi G., Caroppo P., Tagliavini F., Waldo M. L., Johansson P. M., Nilsson C. F., Adeleye A., Alba C., Bacikova D., Hupalo D. N., Martinez E. M., Pollard H. B., Sukumar G., Soltis A. R., Tuck M., Zhang X., Wilkerson M. D., Smith B. N., Ticozzi N., Fallini C., Gkazi A. S., Topp S. D., Kost J., Scotter E. L., Kenna K. P., Miller J. W., Tiloca C., Vance C., Danielson E. W., Troakes C., Colombrita C., Al-Sarraj S., Lewis E. A., King A., Calini D., Pensato V., Castellotti B., de Belleroche J., Baas F., ten Asbroek A. L. M. A., Sapp P. C., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Munoz-Blanco J. L., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., van Rheenen W., Diekstra F. P., Rademakers R., van Blitterswijk M., Boylan K. B., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Blair I. P., Leblond-Manry C., Rouleau G. A., Hardiman O., Morrison K. E., Veldink J. H., van den Berg L. H., Al-Chalabi A., Pall H., Shaw P. J., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Gellera C., Ratti A., Brown R. H., Shaw C. E., Ambrose J. C., Arumugam P., Baple E. L., Bleda M., Boardman-Pretty F., Boissiere J. M., Boustred C. R., Brittain H., Caulfield M. J., Chan G. C., Craig C. E. H., Daugherty L. C., de Burca A., Devereau A., Elgar G., Foulger R. E., Fowler T., Furio-Tari P., Hackett J. M., Halai D., Hamblin A., Henderson S., Holman J. E., Hubbard T. J. P., Jackson R., Jones L. J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S. E. A., Leong I. U. S., Lopez J. F., Maleady-Crowe F., Mason J., McDonagh E. M., Moutsianas L., Mueller M., Murugaesu N., Need A. C., Odhams C. A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Savage K., Sawant K., Scott R. H., Siddiq A., Sieghart A., Smedley D., Smith K. R., Sosinsky A., Spooner W., Stevens H. E., Stuckey A., Sultana R., Thomas E. R. A., Thompson S. R., Tregidgo C., Walsh E., Watters S. A., Welland M. J., Williams E., Witkowska K., Wood S. M., Zarowiecki M., Arepalli S., Auluck P., Baloh R. H., Bowser R., Brice A., Broach J., Camu W., Chio A., Cooper-Knock J., Corcia P., Drepper C., Drory V. E., Dunckley T. L., Faghri F., Farren J., Feldman E., Floeter M. K., Fratta P., Gerhard G., Gibson S. B., Goutman S. A., Heiman-Patterson T. D., Hernandez D. G., Hoover B., Jansson L., Kamel F., Kirby J., Kowall N. W., Laaksovirta H., Landi F., Le Ber I., Lumbroso S., MacGowan D. J., Maragakis N. J., Mora G., Mouzat K., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pioro E., Pulst S. M., Ravits J. M., Renton A. E., Robberecht W., Robey I., Rogaeva E., Rothstein J. D., Sendtner M., Sidle K. C., Simmons Z., Stone D. J., Tienari P. J., Trojanowski J. Q., Troncoso J. C., Valori M., Van Damme P., Van Den Bosch L., Zinman L., Albani D., Borroni B., Padovani A., Bruni A., Clarimon J., Dols-Icardo O., Illan-Gala I., Lleo A., Danek A., Galimberti D., Scarpini E., Serpente M., Graff C., Chiang H. -H., Khoshnood B., Oijerstedt L., Morris C. M., Nacmias B., Sorbi S., Nielsen J. E., Hjermind L. E., Novelli V., Puca A. A., Pastor P., Alvarez I., Diez-Fairen M., Aguilar M., Perneczky R., Diehl-Schimd J., Rossi M., Ruiz A., Boada M., Hernandez I., Moreno-Grau S., Schlachetzki J. C., Aarsland D., Albert M. S., Attems J., Barrett M. J., Beach T. G., Bekris L. M., Bennett D. A., Besser L. M., Bigio E. H., Black S. E., Boeve B. F., Bohannan R. C., Brett F., Brunetti M., Caraway C. A., Palma J. -A., Calvo A., Canosa A., Dickson D., Duyckaerts C., Faber K., Ferman T., Flanagan M. E., Floris G., Foroud T. M., Fortea J., Gan-Or Z., Gentleman S., Ghetti B., Gibbs J. R., Goate A., Goldstein D., Gonzalez-Aramburu I., Graff-Radford N. R., Hodges A. K., Hu H. -C., Hupalo D., Infante J., Iranzo A., Kaiser S. M., Kaufmann H., Keith J., Kim R. C., Klein G., Kruger R., Kukull W., Kuzma A., Lage C., Lesage S., Leverenz J. B., Logroscino G., Lopez G., Love S., Mao Q., Marti M. J., Martinez-McGrath E., Masellis M., Masliah E., May P., McKeith I., Mesulam M. -M., Monuki E. S., Newell K. L., Norcliffe-Kaufmann L., Palmer L., Perkins M., Pletnikova O., Molina-Porcel L., Reynolds R. H., Rodriguez-Rodriguez E., Rohrer J. D., Sanchez-Juan P., Scherzer C. R., Serrano G. E., Shakkottai V., Sidransky E., Tayebi N., Thomas A. J., Tilley B. S., Walton R. L., Woltjer R., Wszolek Z. K., Xiromerisiou G., Zecca C., Phatnani H., Kwan J., Sareen D., Broach J. R., Arcila-Londono X., Lee E. B., Shneider N. A., Fraenkel E., Zaitlen N., Berry J. D., Malaspina A., Cox G. A., Thompson L. M., Finkbeiner S., Dardiotis E., Miller T. M., Chandran S., Pal S., Hornstein E., Heiman-Patterson T., Hammell M. G., Patsopoulos N. A., Butovsky O., Dubnau J., Nath A., Harms M., Aronica E., Poss M., Phillips-Cremins J., Crary J., Atassi N., Lange D. J., Adams D. J., Stefanis L., Gotkine M., Babu S., Raj T., Paganoni S., Shalem O., Smith C., Zhang B., Harris B., Broce I., Drory V., Ravits J., McMillan C., Menon V., Wu L., Altschuler S., Amar K., Archibald N., Bandmann O., Capps E., Church A., Coebergh J., Costantini A., Critchley P., Ghosh B. C., Hu M. T. M., Kobylecki C., Leigh P. N., Mann C., Massey L. A., Morris H. R., Nath U., Pavese N., Paviour D., Sharma J., Vaughan J., Rowe J. B., Benussi L., Binetti G., Ghidoni R., Jabbari E., Viollet C., Glass J. D., Singleton A. B., Silani V., Ross O. A., Ryten M., Torkamani A., Tanaka T., Ferrucci L., Resnick S. M., Pickering-Brown S., Brady C. B., Kowal N., Hardy J. A., Van Deerlin V., Vonsattel J. P., Harms M. B., Ferrari R., Landers J. E., Dalgard C. L., Scholz S. W., Traynor B. J.

المساهمون: Dewan R., Chia R., Ding J., Hickman R.A., Stein T.D., Abramzon Y., Ahmed S., Sabir M.S., Portley M.K., Tucci A., Ibanez K., Shankaracharya F.N.U., Keagle P., Rossi G., Caroppo P., Tagliavini F., Waldo M.L., Johansson P.M., Nilsson C.F., Adeleye A., Alba C., Bacikova D., Hupalo D.N., Martinez E.M., Pollard H.B., Sukumar G., Soltis A.R., Tuck M., Zhang X., Wilkerson M.D., Smith B.N., Ticozzi N., Fallini C., Gkazi A.S., Topp S.D., Kost J., Scotter E.L., Kenna K.P., Miller J.W., Tiloca C., Vance C., Danielson E.W., Troakes C., Colombrita C., Al-Sarraj S., Lewis E.A., King A., Calini D., Pensato V., Castellotti B., de Belleroche J., Baas F., ten Asbroek A.L.M.A., Sapp P.C., McKenna-Yasek D., McLaughlin R.L., Polak M., Asress S., Esteban-Perez J., Munoz-Blanco J.L., Stevic Z., D'Alfonso S., Mazzini L., Comi G.P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., van Rheenen W., Diekstra F.P., Rademakers R., van Blitterswijk M., Boylan K.B., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K.L., Nicholson G.A., Blair I.P., Leblond-Manry C., Rouleau G.A., Hardiman O., Morrison K.E., Veldink J.H., van den Berg L.H., Al-Chalabi A., Pall H., Shaw P.J., Turner M.R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Gellera C., Ratti A., Brown R.H.

مصطلحات موضوعية: amyotrophic lateral sclerosi, frontotemporal dementia, huntingtin, repeat expansion, whole-genome sequencing, Human, Huntingtin Protein, Mutation, Whole Genome Sequencing, DNA Repeat Expansion

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33242422; info:eu-repo/semantics/altIdentifier/wos/MEDLINE:33242422; volume:109; issue:3; firstpage:448; lastpage:460.e4; numberofpages:13; journal:NEURON; http://hdl.handle.net/2318/1778123Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097045939

الإتاحة: https://doi.org/10.1016/j.neuron.2020.11.005Test
http://hdl.handle.net/2318/1778123Test

المؤلفون: Chia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Center

المصدر: Nature Genetics ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101937262&doi=10.1038%2fs41588-021-00785-3&partnerID=40&md5=5a679c258f554487c1813fd3e8da6429Test

مصطلحات موضوعية: Alzheimer disease, Article, diffuse Lewy body disease, gene locus, gene mutation, gene sequence, genetic risk score, genetic susceptibility, genome analysis, genome-wide association study, human, Parkinson disease, priority journal, whole genome sequencing, case control study, clinical trial, gene expression profiling, genetic predisposition, genetics, human genome, multicenter study, single nucleotide polymorphism, alpha synuclein, BIN1 protein, GBA protein, glucosylceramidase, nuclear protein, signal transducing adaptor protein, SNCA protein, tumor suppressor protein

العلاقة: http://hdl.handle.net/11615/72797Test

الإتاحة: https://doi.org/10.1038/s41588-021-00785-3Test
http://hdl.handle.net/11615/72797Test

المؤلفون: Chersakova, V., López-Maury, Luis, Bacikova, D., Pridham, K., Bähler, Jürg, Maraia, R.J.

العلاقة: Molecular Biology of the Cell 23: 480- 491 (2012); http://hdl.handle.net/10261/98235Test

الإتاحة: https://doi.org/10.1091/mbc.E11-08-0732Test
http://hdl.handle.net/10261/98235Test

المؤلفون: Bacikova, D., Horowitz, D. S.

مصطلحات موضوعية: Journal Article

وصف الملف: text/html

العلاقة: http://rnajournal.cshlp.org/cgi/content/short/8/10/1280Test

الإتاحة: http://rnajournal.cshlp.org/cgi/content/short/8/10/1280Test

المؤلفون: Gable, K, Slife, H, Bacikova, D, Monaghan, E, Dunn, T M

المصدر: Journal of Biological Chemistry; March 2000, Vol. 275 Issue: 11 p7597-603, 7p

المؤلفون: Beeler, T, Bacikova, D, Gable, K, Hopkins, L, Johnson, C, Slife, H, Dunn, T

المصدر: Journal of Biological Chemistry; November 1998, Vol. 273 Issue: 46 p30688-94, 7p