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1دورية أكاديمية
المؤلفون: Zanovello, M, Ibanez, K, Brown, A-L, Sivakumar, P, Bombaci, A, Santos, L, van Vugt, JJFA, Narzisi, G, Karra, R, Scholz, SW, Ding, J, Gibbs, JR, Chio, A, Dalgard, C, Weisburd, B, Hanna, MG, Greensmith, L, Phatnani, H, Veldink, JH, Traynor, BJ, Polke, J, Houlden, H, Fratta, P, Tucci, A
مصطلحات موضوعية: androgen receptor, whole-genome sequencing, bioinformatics, population genetics, spinal and bulbar muscular atrophy
وصف الملف: 2723 - 2729
العلاقة: BRAIN; https://qmro.qmul.ac.uk/xmlui/handle/123456789/89471Test
الإتاحة: https://doi.org/10.1093/brain/awad050Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/89471Test -
2دورية أكاديمية
المؤلفون: Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., Berry, J. D., Butovsky, O., Baloh, R. H., Shalem, Ophir, Heiman-Patterson, T., Stefanis, L., Chandran, S., Pal, S., Smith, C., Malaspina, A., Hammell, M. G., Patsopoulos, N. A., Dubnau, J., Poss, M., Zhang, B., Zaitlen, N., Hornstein, E., Miller, T. M., Dardiotis, E., Bowser, R., Menon, V., Harms, M., Atassi, N., Lange, D. J., MacGowan, D. J., McMillan, C., Aronica, E., Harris, B., Ravits, J., Crary, J., Thompson, L. M., Raj, T.
المساهمون: AriSLA Project: PathensTDP
المصدر: Communications Biology ; volume 5, issue 1 ; ISSN 2399-3642
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1038/s42003-022-03253-8Test
https://www.nature.com/articles/s42003-022-03253-8.pdfTest
https://www.nature.com/articles/s42003-022-03253-8Test -
3دورية أكاديمية
المؤلفون: Prudencio, M, Humphrey, J, Pickles, S, Brown, A-L, Hill, SE, Kachergus, J, Shi, J, Heckman, M, Spiegel, M, Cook, C, Song, Y, Yue, M, Daughrity, L, Carlomagno, Y, Jansen-West, K, Fernandez De Castro, C, DeTure, M, Koga, S, Wang, Y-C, Sivakumar, P, Bodo, C, Candalija, A, Talbot, K, Selvaraj, BT, Burr, K, Chandran, S, Newcombe, J, Lashley, T, Hubbard, I, Catalano, D, Kim, D, Propp, N, Fennessey, S, Fagegaltier, D, Phatnani, H, Secrier, M, Fisher, EM, Oskarsson, B, van Blitterswijk, M, Rademakers, R, Graff-Radford, NR, Boeve, B, Knopman, DS, Petersen, R, Josephs, K, Thompson, EA, Raj, T, Ward, ME, Dickson, D, Gendron, TF, Fratta, P, Petrucelli, L
المصدر: Journal of Clinical Investigation (2020) (In press).
مصطلحات موضوعية: Dementia, Neuroscience
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10107964/1/139741.1-20200812162630-covered-253bed37ca4c1ab43d105aefdf7b5536.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10107964Test/
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4تقرير
المؤلفون: Phatnani, H, Kwan, J, Sareen, D, Broach, JR, Simmons, Z, Arcila-Londono, X, Lee, EB, Van Deerlin, VM, Shneider, NA, Fraenkel, E, Ostrow, LW, Baas, F, Zaitlen, N, Berry, JD, Malaspina, A, Fratta, P, Cox, GA, Thompson, LM, Finkbeiner, S, Dardiotis, E, Miller, TM, Chandran, S, Pal, S, Hornstein, E, MacGowan, DJ, Heiman-Patterson, T, Hammell, MG, Patsopoulos, NA, Butovsky, O, Dubnau, J, Nath, A, Bowser, R, Harms, M, Poss, M, Phillips-Cremins, J, Crary, J, Atassi, N, Lange, DJ, Adams, DJ, Stefanis, L, Gotkine, M, Baloh, RH, 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, Li, J, Lim, RG, Kaye, JA, Dardov, V, Coyne, AN, Wu, J, Milani, P, Cheng, A, Thompson, TG, Ornelas, L, Frank, A, Adam, M, Banuelos, MG, Casale, M, Cox, V, Escalante-Chong, R, Daigle, JG, Gomez, E, Hayes, L, Holewenski, R, Lei, S, Lenail, A, Lima, L, Mandefro, B, Matlock, A, Panther, L, Patel-Murray, NL, Pham, J, Ramamoorthy, D, Sachs, K, Shelley, B, Stocksdale, J, Trost, H, Wilhelm, M, Venkatraman, V, Wassie, BT, Wyman, S, Yang, S, Van Eyk, JE, Lloyd, TE, Rothstein, JD, Svendsen, CN
مصطلحات موضوعية: amyotrophic lateral sclerosis, motor neurons, stem cells
وصف الملف: application/pdf
العلاقة: http://repository.cshl.edu/id/eprint/40511/1/2021.NeuroLINCS.ALS.pdfTest; Phatnani, H, Kwan, J, Sareen, D, Broach, JR, Simmons, Z, Arcila-Londono, X, Lee, EB, Van Deerlin, VM, Shneider, NA, Fraenkel, E, Ostrow, LW, Baas, F, Zaitlen, N, Berry, JD, Malaspina, A, Fratta, P, Cox, GA, Thompson, LM, Finkbeiner, S, Dardiotis, E, Miller, TM, Chandran, S, Pal, S, Hornstein, E, MacGowan, DJ, Heiman-Patterson, T, Hammell, MG, Patsopoulos, NA, Butovsky, O, Dubnau, J, Nath, A, Bowser, R, Harms, M, Poss, M, Phillips-Cremins, J, Crary, J, Atassi, N, Lange, DJ, Adams, DJ, Stefanis, L, Gotkine, M, Baloh, RH, 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, Li, J, Lim, RG, Kaye, JA, Dardov, V, Coyne, AN, Wu, J, Milani, P, Cheng, A, Thompson, TG, Ornelas, L, Frank, A, Adam, M, Banuelos, MG, Casale, M, Cox, V, Escalante-Chong, R, Daigle, JG, Gomez, E, Hayes, L, Holewenski, R, Lei, S, Lenail, A, Lima, L, Mandefro, B, Matlock, A, Panther, L, Patel-Murray, NL, Pham, J, Ramamoorthy, D, Sachs, K, Shelley, B, Stocksdale, J, Trost, H, Wilhelm, M, Venkatraman, V, Wassie, BT, Wyman, S, Yang, S, Van Eyk, JE, Lloyd, TE, Finkbeiner, S, Rothstein, JD, Svendsen, CN (November 2021) An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. iScience, 24 (11). p. 103221. ISSN 2589-0042
الإتاحة: https://doi.org/10.1016/j.isci.2021.103221Test
http://repository.cshl.edu/id/eprint/40511Test/
http://repository.cshl.edu/id/eprint/40511/1/2021.NeuroLINCS.ALS.pdfTest -
5دورية أكاديمية
المؤلفون: Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A, ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L, Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB, ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM, NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC, Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J, SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C, French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A, Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE
المساهمون: Nicolas, A, Kenna, Kp, Renton, Ae, Ticozzi, N, Faghri, F, Chia, R, Dominov, Ja, Kenna, Bj, Nalls, Ma, Keagle, P, Rivera, Am, van Rheenen, W, Murphy, Na, van Vugt, Jjfa, Geiger, Jt, Van der Spek, Ra, Pliner, Ha, Shankaracharya, Smith, Bn, Marangi, G, Topp, Sd, Abramzon, Y, Gkazi, A, Eicher, Jd, Kenna, A, Italsgen, Consortium, Mora, G, Calvo, A, Mazzini, L, Riva, N, Mandrioli, J, Caponnetto, C, Battistini, S, Volanti, P, La Bella, V, Conforti, Fl, Borghero, G, Messina, S, Simone, Il, Trojsi, F, Salvi, F, Logullo, Fo, D'Alfonso, S, Corrado, L, Capasso, M, Ferrucci, L, Genomic Translation for ALS Care (GTAC), Consortium, Moreno, Cam, Kamalakaran, S, Goldstein, Db, ALS Sequencing, Consortium, Gitler, Ad, Harris, T, Myers, Rm, NYGC ALS, Consortium, Phatnani, H, Musunuri, Rl, Evani, U, Abhyankar, A, Zody, Mc, Answer ALS, Foundation, Kaye, J, Finkbeiner, S, Wyman, Sk, Lenail, A, Lima, L, Fraenkel, E, Svendsen, Cn, Thompson, Lm, Van Eyk, Je, Berry, Jd, Miller, Tm, Kolb, Sj, Cudkowicz, M, Baxi, E, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe), Consortium, Benatar, M, Taylor, Jp, Rampersaud, E, Wu, G, Wuu, J, Slagen, Consortium, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, Gp, Sorarù, G, Cereda, C, French ALS, Consortium, Corcia, P, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, Rw
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29566793; info:eu-repo/semantics/altIdentifier/wos/WOS:000428235400013; volume:97; issue:6; firstpage:1268; lastpage:1283; numberofpages:16; journal:NEURON; http://hdl.handle.net/11586/228872Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044172835
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6دورية أكاديمية
المؤلفون: Gelfman, S, Dugger, S, Moreno, CDAM, Ren, Z, Wolock, CJ, Shneider, NA, Phatnani, H, Cirulli, ET, Lasseigne, BN, Harris, T, Maniatis, T, Rouleau, GA, Brown, RH, Gitler, AD, Myers, RM, Petrovski, S, Allen, A, Goldstein, DB, Harms, MB
العلاقة: NHMRC/1126877; pii: gr.243592.118; Gelfman, S., Dugger, S., Moreno, C. D. A. M., Ren, Z., Wolock, C. J., Shneider, N. A., Phatnani, H., Cirulli, E. T., Lasseigne, B. N., Harris, T., Maniatis, T., Rouleau, G. A., Brown, R. H., Gitler, A. D., Myers, R. M., Petrovski, S., Allen, A., Goldstein, D. B. & Harms, M. B. (2019). A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS. GENOME RESEARCH, 29 (5), pp.809-818. https://doi.org/10.1101/gr.243592.118Test.; http://hdl.handle.net/11343/290308Test
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7دورية أكاديمية
المؤلفون: Tam, OH, Rozhkov, NV, Shaw, R, Kim, D, Hubbard, I, Fennessey, S, Propp, N, Fagegaltier, D, Harris, BT, Ostrow, LW, Phatnani, H, Ravits, J, Dubnau, J, Hammell, MG, Kwan, J, Sareen, D, Broach, JR, Simmons, Z, Arcila-Londono, X, Lee, EB, Van Deerlin, VM, Shneider, NA, Fraenkel, E, Baas, F, Zaitlen, N, Berry, JD, Malaspina, A, Fratta, P, Cox, GA, Thompson, LM, Finkbeiner, S, Dardiotis, E, Miller, TM, Chandran, S, Pal, S, Hornstein, E, MacGowan, DJ, Heiman-Patterson, T, Patsopoulos, NA, Butovsky, O, Nath, A, Bowser, R, Harms, M, Aronica, E, Poss, M, Phillips-Cremins, J, Crary, J, Atassi, N, Lange, DJ, Adams, DJ, Stefanis, L, Gotkine, M, Baloh, R, Babu, S, Raj, T, Paganoni, S, Shalem, O, Smith, C, Zhang, B
المصدر: Cell Reports , 29 (5) pp. 1164-1177. (2019)
مصطلحات موضوعية: amyotrophic lateral sclerosis, retrotransposons, transposable elements, TDP-43, neurodegenerative disease, neurodegeneration, genetics and genomics of ALS
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10092224/1/1-s2.0-S221112471931263X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10092224Test/
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8دورية أكاديمية
المؤلفون: Conlon, EG, Fagegaltier, D, Agius, P, Davis-Porada, J, Gregory, J, Hubbard, I, Kang, K, Kim, D, Phatnani, H, Shneider, NA, Manley, JL
المصدر: eLife , 7 , Article e37754. (2018)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biology, Life Sciences & Biomedicine - Other Topics, AMYOTROPHIC-LATERAL-SCLEROSIS, RNA-BINDING PROTEINS, PRION-LIKE DOMAINS, FRONTOTEMPORAL DEMENTIA, REPEAT EXPANSION, PHASE-TRANSITIONS, NEURODEGENERATIVE DISEASE, HEXANUCLEOTIDE REPEAT, SPLICING REGULATION, STRESS GRANULES
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10057184/1/Unexpected%20similarities%20between%20C9ORF72%20and%20sporadic%20forms%20of%20ALS/FTD%20suggest%20a%20common%20disease%20mechanism.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10057184Test/
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9دورية أكاديمية
المؤلفون: Nicolas, A, Kenna, KP, Renton, AE, Ticozzi, N, Faghri, F, Chia, R, Dominov, JA, Kenna, BJ, Nalls, MA, Keagle, P, Rivera, AM, van Rheenen, W, Murphy, NA, van Vugt, JJFA, Geiger, JT, Van der Spek, RA, Pliner, HA, Shankaracharya, Smith, BN, Marangi, G, Topp, SD, Abramzon, Y, Gkazi, AS, Eicher, JD, Kenna, A, ITALSGEN Consortium, Mora, G, Calvo, A, Mazzini, L, Riva, N, Mandrioli, J, Caponnetto, C, Battistini, S, Volanti, P, La Bella, V, Conforti, FL, Borghero, G, Messina, S, Simone, IL, Trojsi, F, Salvi, F, Logullo, FO, D'Alfonso, S, Corrado, L, Capasso, M, Ferrucci, L, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, CDAM, Kamalakaran, S, Goldstein, DB, ALS Sequencing Consortium, Gitler, AD, Harris, T, Myers, RM, NYGC ALS Consortium, Phatnani, H, Musunuri, RL, Evani, US, Abhyankar, A, Zody, MC, Answer ALS Foundation, Kaye, J, Finkbeiner, S, Wyman, SK, LeNail, A, Lima, L, Fraenkel, E, Svendsen, CN, Thompson, LM, Van Eyk, JE, Berry, JD, Miller, TM, Kolb, SJ, Cudkowicz, M, Baxi, E, Clinical Research in ALS and Related Disorders for Therapeutic D, Benatar, M, Taylor, JP, Rampersaud, E, Wu, G, Wuu, J, SLAGEN Consortium, Lauria, G, Verde, F, Fogh, I, Tiloca, C, Comi, GP, Sorarù, G, Cereda, C, French ALS Consortium, Corcia, P, Laaksovirta, H, Myllykangas, L, Jansson, L, Valori, M, Ealing, J, Hamdalla, H, Rollinson, S, Pickering-Brown, S, Orrell, RW, Sidle, KC, Malaspina, A, Hardy, J, Singleton, AB, Johnson, JO, Arepalli, S, Sapp, PC, McKenna-Yasek, D, Polak, M, Asress, S, Al-Sarraj, S, King, A, Troakes, C, Vance, C, de Belleroche, J, Baas, F, Ten Asbroek, ALMA, Muñoz-Blanco, JL, Hernandez, DG, Ding, J, Gibbs, JR, Scholz, SW, Floeter, MK, Campbell, RH, Landi, F, Bowser, R, Pulst, SM, Ravits, JM, MacGowan, DJL, Kirby, J, Pioro, EP, Pamphlett, R, Broach, J, Gerhard, G, Dunckley, TL, Brady, CB, Kowall, NW, Troncoso, JC, Le Ber, I, Mouzat, K, Lumbroso, S, Heiman-Patterson, TD, Kamel, F, Van Den Bosch, L, Baloh, RH, Strom, TM, Meitinger, T, Shatunov, A, Van Eijk, KR, de Carvalho, M, Kooyman, M, Middelkoop, B, Moisse, M, McLaughlin, RL, Van Es, MA, Weber, M, Boylan, KB, Van Blitterswijk, M, Rademakers, R, Morrison, KE, Basak, AN, Mora, JS, Drory, VE, Shaw, PJ, Turner, MR, Talbot, K, Hardiman, O, Williams, KL, Fifita, JA, Nicholson, GA, Blair, IP, Rouleau, GA, Esteban-Pérez, J, García-Redondo, A, Al-Chalabi, A, Project MinE ALS Sequencing Consortium, Rogaeva, E, Zinman, L, Ostrow, LW, Maragakis, NJ, Rothstein, JD, Simmons, Z, Cooper-Knock, J, Brice, A, Goutman, SA, Feldman, EL, Gibson, SB, Taroni, F, Ratti, A, Gellera, C, Van Damme, P, Robberecht, W, Fratta, P, Sabatelli, M, Lunetta, C, Ludolph, AC, Andersen, PM, Weishaupt, JH, Camu, W, Trojanowski, JQ, Van Deerlin, VM, Brown, RH, van den Berg, LH, Veldink, JH, Harms, MB, Glass, JD, Stone, DJ, Tienari, P, Silani, V, Chiò, A, Shaw, CE, Traynor, BJ, Landers, JE
المصدر: Neuron , 97 (6) 1268-1283.e6. (2018)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10046252/1/KIF5A_ALS_02_07_18.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10046252Test/
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