المؤلفون: Edmonson, MN, Patel, AN, Hedges, DJ, Wang, ZM, Rampersaud, E, Kesserwan, CA, Zhou, X, Liu, YL, Newman, S, Rusch, MC, McLeod, CL, Wilkinson, MR, Rice, SV, Soussi, T, Taylor, JP, Benatar, M, Becksfort, JB, Nichols, KE, Robison, LL, Downing, JR, Zhang, JH

المصدر: Genome research. 29(9):1555-1565

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141746610Test

المؤلفون: Pölönen, P., Elsayed, A., Montefiori, L., Kimura, S., Myers, J., Hedges, D., Xu, J., Hui, Y., Cheng, Z., Fan, Y., Chang, Y., Shraim, R., Devidas, M., Winter, S., Dunsmore, K., Yang, J. J., Vincent, T. L., Tan, K., Chen, C., Newman, H., Loh, M., Raetz, E., Hunger, S. P., Rampersaud, E., Chang, T.-C., Wu, G., Pounds, S., Mullighan, C. G., Teachey, D. T.

المصدر: HemaSphere ; volume 6, page 3-4 ; ISSN 2572-9241

الإتاحة: https://doi.org/10.1097/01.hs9.0000843304.00278.87Test

المؤلفون: Pinto, EM, Figueiredo, BC, Chen, W, Galvao, HCR, Formiga, MN, Fragoso, MCB, Ashton-Prolla, P, Ribeiro, EMSF, Felix, G, Costa, TEB, Savage, SA, Yeager, M, Palmero, E, Volc, S, Salvador, H, Luis Fuster-Soler, J, Lavarino, C, Chantada, G, Vaur, D, Odone-Filho, V, Brugieres, L, Else, T, Stoffel, EM, Maxwell, KN, Achatz, MI, Kowalski, L, de Andrade, KC, Pappo, A, Letouze, E, Latronico, AC, Mendonca, BB, Almeida, MQ, Brondani, VB, Bittar, CM, Soares, EWS, Mathias, C, Ramos, CRN, Machado, M, Zhou, W, Jones, K, Vogt, A, Klincha, PP, Santiago, KM, Komechen, H, Paraizo, MM, Parise, IZS, Hamilton, K, Wang, J, Rampersaud, E, Clay, MR, Murphy, AJ, Lalli, E, Nichols, KE, Ribeiro, RC, Rodriguez-Galindo, C, Korbonits, M, Zhang, J, Thomas, MG, Connelly, JP, Pruett-Miller, S, Diekmann, Y, Neale, G, Wu, G, Zambetti, GP

المصدر: Science Advances , 6 (26) , Article eaba3231. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10105076/1/eaba3231.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10105076Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10105076/1/eaba3231.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10105076Test/

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

مصطلحات موضوعية: ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo

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

الإتاحة: https://doi.org/10.1016/j.neuron.2018.02.027Test
http://hdl.handle.net/11586/228872Test

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)

مصطلحات موضوعية: ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo

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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10046252/1/KIF5A_ALS_02_07_18.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10046252Test/

المؤلفون: Walsh, David A., Laslett, L.L., Maciewicz, R.A., Soni, A., Hart, D.J., Zhang, Weiya, Muir, K.R., Dennison, E.M., Leaverton, P., Rampersaud, E., Cooper, C., Spector, T.D., Cicuttini, F.M., Arden, N.K., Jones, G., Doherty, M., Valdes, Ana M., Warner, S.C.

العلاقة: https://nottingham-repository.worktribe.com/output/860332Test; European Journal of Pain; Volume 21; Issue 7; Pagination 1277-1284; https://nottingham-repository.worktribe.com/file/860332/1/SP%20paper%20final.pdfTest

الإتاحة: https://doi.org/10.1002/ejp.1027Test
https://nottingham-repository.worktribe.com/file/860332/1/SP%20paper%20final.pdfTest
https://nottingham-repository.worktribe.com/output/860332Test

المؤلفون: Warner, S C, Walsh, D A, Laslett, Laura L., Maciewicz, R A, Soni, A., Hart, D J, Zhang, W, Muir, Kenneth, Dennison, E M, Leaverton, P E, Rampersaud, E, Cooper, C, Spector, Timothy D, Cicuttini, F M, Arden, N K, Jones, G, Doherty, M, Valdes, A M

المصدر: Warner , S C , Walsh , D A , Laslett , L L , Maciewicz , R A , Soni , A , Hart , D J , Zhang , W , Muir , K , Dennison , E M , Leaverton , P E , Rampersaud , E , Cooper , C , Spector , T D , Cicuttini , F M , Arden , N K , Jones , G , Doherty , M & Valdes , A M 2017 , ' Pain in knee osteoarthritis is associated with variation in the neurokinin 1/substance P receptor ....

مصطلحات موضوعية: Journal Article

وصف الملف: application/pdf

العلاقة: https://research.manchester.ac.uk/en/publications/4e11dc5b-52b0-47eb-bc88-ed1d61930fc3Test

الإتاحة: https://doi.org/10.1002/ejp.1027Test
https://research.manchester.ac.uk/en/publications/4e11dc5b-52b0-47eb-bc88-ed1d61930fc3Test
https://pure.manchester.ac.uk/ws/files/56395974/Warner_et_al_2017_European_Journal_of_Pain.pdfTest

المؤلفون: Fukuda, Y, Cheong, P.L, Lynch, J, Brighton, C, Frase, S, Kargas, V, Rampersaud, E, Wang, Y, Sankaran, V.G, Yu, B, Ney, P.A, Weiss, M.J, Vogel, P, Bond, P.J, Ford, R.C, Trent, R.J, Schuetz, J.D

المساهمون: BIOLOGICAL SCIENCES

المصدر: Unpaywall 20201031

مصطلحات موضوعية: ABC transporter, CD11b antigen, CD4 antigen, CD45 antigen, CD8 antigen, cpox protein, fech protein, gamma interferon receptor 1, hmbs protein, lan antigen abcb6 protein, porphyrin, ppox protein, protein, ter119 protein, unclassified drug, ABCB6 protein, human, mouse, alloantigen, heme, LAN antigen, allele, antigen, blood, enzyme activity, gene expression, genetic analysis, membrane, mutation, phenotype

العلاقة: Fukuda, Y, Cheong, P.L, Lynch, J, Brighton, C, Frase, S, Kargas, V, Rampersaud, E, Wang, Y, Sankaran, V.G, Yu, B, Ney, P.A, Weiss, M.J, Vogel, P, Bond, P.J, Ford, R.C, Trent, R.J, Schuetz, J.D (2016). The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. Nature Communications 7 : 12353. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms12353Test; https://scholarbank.nus.edu.sg/handle/10635/182438Test

الإتاحة: https://doi.org/10.1038/ncomms12353Test
https://scholarbank.nus.edu.sg/handle/10635/182438Test

المؤلفون: Vance, DD, Chen, GL, Stoutenberg, M, Myerburg, RJ, Jacobs, K, Nathanson, L, Perry, A, Seo, D, Goldschmidt-Clermont, PJ, Rampersaud, E, Stoutenberg, Mark|0000-0001-5206-7627

وصف الملف: 6-

العلاقة: Springer Science and Business Media LLC; BMC Sports Science, Medicine and Rehabilitation; PMC3996079 (pmc); http://hdl.handle.net/20.500.12613/5311Test

الإتاحة: https://doi.org/20.500.12613/5311Test
https://hdl.handle.net/20.500.12613/5311Test

المؤلفون: Graff, M, Fernández-Rhodes, L, Liu, S, Carlson, C, Wassertheil-Smoller, S, Neuhouser, M, Reiner, A, Kooperberg, C, Rampersaud, E, Manson, J E, Kuller, L H, Howard, B V, Ochs-Balcom, H M, Johnson, K C, Vitolins, M Z, Sucheston, L, Monda, K, North, K E

المصدر: Nutrition & Diabetes ; volume 3, issue 8, page e85-e85 ; ISSN 2044-4052

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1038/nutd.2013.26Test
http://www.nature.com/articles/nutd201326.pdfTest
http://www.nature.com/articles/nutd201326Test
https://www.nature.com/articles/nutd201326.pdfTest