المؤلفون: Gautier, O, Blum, JA, Maksymetz, J, Chen, D, Schweingruber, C, Mei, I, Hermann, A, Hackos, DH, Hedlund, E, Ravits, J, Gitler, AD

المصدر: Neuron. 111(23):3739-3741

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154508560

المؤلفون: Lee, T, Li, YR, Ingre, C, Weber, M, Grehl, T, Gredal, O, de Carvalho, M, Meyer, T, Tysnes, OB, Auburger, G, Gispert, S, Bonini, NM, Andersen, PM, Gitler, AD

المصدر: Human molecular genetics. 20(9):1697-1700

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122372809

المؤلفون: Couthouis, J, Hart, MP, Shorter, J, DeJesus-Hernandez, M, Erion, R, Oristano, R, Liu, AX, Ramos, D, Jethava, N, Hosangadi, D, Epstein, J, Chiang, A, Diaz, Z, Nakaya, T, Ibrahim, F, Kim, HJ, Solski, JA, Williams, KL, Mojsilovic-Petrovic, J, Ingre, C, Boylan, K, Graff-Radford, NR, Dickson, DW, Clay-Falcone, D, Elman, L, McCluskey, L, Greene, R, Kalb, RG, Lee, VMY, Trojanowski, JQ, Ludolph, A, Robberecht, W, Andersen, PM, Nicholson, GA, Blair, IP, King, OD, Bonini, NM, Van Deerlin, V, Rademakers, R, Mourelatos, Z, Gitler, AD

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 108(52):20881-20890

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:123783914

المؤلفون: Eger, SJ, Le Guen, Y, Khan, RR, Hall, JN, Kennedy, G, Zaharchuk, G, Couthouis, J, Brooks, WS, Velakoulis, D, Napolioni, V, Belloy, ME, Dalgard, CL, Mormino, EC, Gitler, AD, Greicius, MD

Relation: pii: NG2021017153; Eger, S. J., Le Guen, Y., Khan, R. R., Hall, J. N., Kennedy, G., Zaharchuk, G., Couthouis, J., Brooks, W. S., Velakoulis, D., Napolioni, V., Belloy, M. E., Dalgard, C. L., Mormino, E. C., Gitler, A. D. & Greicius, M. D. (2022). Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease. NEUROLOGY-GENETICS, 8 (1), https://doi.org/10.1212/NXG.0000000000000647.; http://hdl.handle.net/11343/305403

الاتاحة: http://hdl.handle.net/11343/305403

المؤلفون: Finkbeiner, Steven, Kim, H-J, Raphael, AR, LaDow, ES, McGurk, L, Weber, RA, Trojanowski, JQ, Lee, VM-Y, Gitler, AD, Bonini, NM

URL الوصول: https://escholarship.org/uc/item/7gr7n6sv

المؤلفون: Guttenplan, KA, Weigel, MK, Adler, D, Couthouis, J, Liddelow, SA, Gitler, AD, Barres, BA

Relation: pii: 10.1038/s41467-020-17514-9; Guttenplan, K. A., Weigel, M. K., Adler, D., Couthouis, J., Liddelow, S. A., Gitler, A. D. & Barres, B. A. (2020). Knockout of reactive astrocyte activating factors slows disease progression in an ALS mouse model. NATURE COMMUNICATIONS, 11 (1), https://doi.org/10.1038/s41467-020-17514-9.; http://hdl.handle.net/11343/304477

الاتاحة: http://hdl.handle.net/11343/304477

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

Relation: 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/11586/228872; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85044172835

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

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

Relation: 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.243592.118.; http://hdl.handle.net/11343/290308

الاتاحة: http://hdl.handle.net/11343/290308

المؤلفون: Gittings, LM, Boeynaems, S, Lightwood, D, Clargo, A, Topia, S, Nakayama, L, Troakes, C, Mann, DMA, Gitler, AD, Lashley, T, Isaacs, AM

المصدر: Acta Neuropathologica (2019) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10088152/1/Isaacs_Symmetric%20dimethylation%20of%20poly-GR%20correlates%20with%20disease%20duration%20in%20C9orf72%20FTLD%20and%20ALS%20and%20reduces%20poly-GR%20phase%20separation%20and%20toxicity_AOP.pdf; https://discovery.ucl.ac.uk/id/eprint/10088152/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10088152/1/Isaacs_Symmetric%20dimethylation%20of%20poly-GR%20correlates%20with%20disease%20duration%20in%20C9orf72%20FTLD%20and%20ALS%20and%20reduces%20poly-GR%20phase%20separation%20and%20toxicity_AOP.pdf
https://discovery.ucl.ac.uk/id/eprint/10088152/

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10046252/1/KIF5A_ALS_02_07_18.pdf; https://discovery.ucl.ac.uk/id/eprint/10046252/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10046252/1/KIF5A_ALS_02_07_18.pdf
https://discovery.ucl.ac.uk/id/eprint/10046252/

المؤلفون: Sproviero, W, Shatunov, A, Stahl, D, Shoai, M, van, Rheenen W, Jones, AR, Al-Sarraj, S, Andersen, PM, Bonini, NM, Conforti, FL, Van, Damme P, Daoud, H, Del, Mar Amador M, Fogh, I, Forzan, M, Gaastra, B, Gellera, C, Gitler, AD, Hardy, J, Fratta, P, La Bella, Vincenzo, Le Ber, Isabelle, Van Langenhove, Tim, Lattante, Serena, Lee, Yi-Chung, Malaspina, Andrea, Meininger, Vincent, Millecamps, Stéphanie, Orrell, Richard, Rademakers, Rosa, Robberecht, Wim, Rouleau, Guy, Ross, Owen, Salachas, Francois, Sidle, Katie, Smith, Bradley, Soong, Bing-Wen, Sorarù, Gianni, Stevanin, Giovanni, Kabashi, Edor, Troakes, Claire, van Broeckhoven, Christine, Veldink, Jan, van den Berg, Leonard, Shaw, Christopher, Powell, John, Al-Chalabi, Ammar

وصف الملف: text

Relation: https://eprints.soton.ac.uk/455036/1/1_s2.0_S0197458016302974_main.pdf; Sproviero, W, Shatunov, A, Stahl, D, Shoai, M, van, Rheenen W, Jones, AR, Al-Sarraj, S, Andersen, PM, Bonini, NM, Conforti, FL, Van, Damme P, Daoud, H, Del, Mar Amador M, Fogh, I, Forzan, M, Gaastra, B, Gellera, C, Gitler, AD, Hardy, J, Fratta, P, La Bella, Vincenzo, Le Ber, Isabelle, Van Langenhove, Tim, Lattante, Serena, Lee, Yi-Chung, Malaspina, Andrea, Meininger, Vincent, Millecamps, Stéphanie, Orrell, Richard, Rademakers, Rosa, Robberecht, Wim, Rouleau, Guy, Ross, Owen, Salachas, Francois, Sidle, Katie, Smith, Bradley, Soong, Bing-Wen, Sorarù, Gianni, Stevanin, Giovanni, Kabashi, Edor, Troakes, Claire, van Broeckhoven, Christine, Veldink, Jan, van den Berg, Leonard, Shaw, Christopher, Powell, John and Al-Chalabi, Ammar (2017) ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging, 51, 178.e1 - 178.e9. (doi:10.1016/j.neurobiolaging.2016.11.010 ).

الاتاحة: https://eprints.soton.ac.uk/455036/
https://eprints.soton.ac.uk/455036/1/1_s2.0_S0197458016302974_main.pdf

المؤلفون: Williams, KL, Topp, S, Yang, S, Smith, B, Fifita, JA, Warraich, ST, Zhang, KY, Farrawell, N, Vance, C, Hu, X, Chesi, A, Leblond, CS, Lee, A, Rayner, SL, Sundaramoorthy, V, Dobson-Stone, C, Molloy, MP, Van Blitterswijk, M, Dickson, DW, Petersen, RC, Graff-Radford, NR, Boeve, BF, Murray, ME, Pottier, C, Don, E, Winnick, C, McCann, EP, Hogan, A, Daoud, H, Levert, A, Dion, PA, Mitsui, J, Ishiura, H, Takahashi, Y, Goto, J, Kost, J, Gellera, C, Gkazi, AS, Miller, J, Stockton, J, Brooks, WS, Boundy, K, Polak, M, Muñoz-Blanco, JL, Esteban-Pérez, J, Rábano, A, Hardiman, O, Morrison, KE, Ticozzi, N, Silani, V, De Belleroche, J, Glass, JD, Kwok, JBJ, Guillemin, GJ, Chung, RS, Tsuji, S, Brown, RH, García-Redondo, A, Rademakers, R, Landers, JE, Gitler, AD, Rouleau, GA, Cole, NJ, Yerbury, JJ, Atkin, JD, Shaw, CE, Nicholson, GA, Blair, IP

المصدر: urn:ISSN:2041-1723 ; Nature Communications, 7, 1, 11253

مصطلحات موضوعية: 3101 Biochemistry and Cell Biology, 3105 Genetics, 31 Biological Sciences, Rare Diseases, Brain Disorders, ALS, Alzheimer's Disease Related Dementias (ADRD), Neurosciences, Acquired Cognitive Impairment, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Frontotemporal Dementia (FTD), Aging, Dementia, Neurodegenerative, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Animals, Cell Line, Tumor, Chromosome Mapping, Chromosomes, Human, Pair 16, Cyclins

Relation: http://purl.org/au-research/grants/nhmrc/APP1062539; http://hdl.handle.net/1959.4/unsworks_43890; https://doi.org/10.1038/ncomms11253

الاتاحة: http://hdl.handle.net/1959.4/unsworks_43890
https://doi.org/10.1038/ncomms11253

المؤلفون: Boeynaems, S, Bogaert, Elke, Michiels, E, Gijselinck, I, Sieben, Anne, Jovičić, A, De Baets, G, Scheveneels, W, Steyaert, J, Cuijt, I, Verstrepen, KJ, Callaerts, P, Rousseau, F, Schymkowitz, J, Cruts, M, Van Broeckhoven, C, Van Damme, P, Gitler, AD, Robberecht, W, Van Den Bosch, L

المصدر: SCIENTIFIC REPORTS ; ISSN: 2045-2322

مصطلحات موضوعية: Biology and Life Sciences, Medicine and Health Sciences

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01GXBG5QV05KK365NBHH7TN1PM; http://hdl.handle.net/1854/LU-01GXBG5QV05KK365NBHH7TN1PM; http://dx.doi.org/10.1038/srep20877; https://biblio.ugent.be/publication/01GXBG5QV05KK365NBHH7TN1PM/file/01GZ1DKWZ1J53NMQTG85ANBKS7

الاتاحة: https://biblio.ugent.be/publication/01GXBG5QV05KK365NBHH7TN1PM
http://hdl.handle.net/1854/LU-01GXBG5QV05KK365NBHH7TN1PM
https://doi.org/10.1038/srep20877
https://biblio.ugent.be/publication/01GXBG5QV05KK365NBHH7TN1PM/file/01GZ1DKWZ1J53NMQTG85ANBKS7

المؤلفون: Sproviero, W, Shatunov, A, Stahl, D, Shoai, M, van Rheenen, W, Jones, AR, Al-Sarraj, S, Andersen, PM, Bonini, NM, Conforti, FL, Van Damme, P, Daoud, H, Amador, MDM, Fogh, I, Forzan, M, Gaastra, B, Gellera, C, Gitler, AD, Hardy, J, Fratta, P, La Bella, V, Le Ber, I, Van Langenhove, T, Lattante, S, Lee, Y-C, Malaspina, A, Meininger, V, Millecamps, S, Orrell, R, Rademakers, R, Robberecht, W, Rouleau, G, Ross, OA, Salachas, F, Sidle, K, Smith, BN, Soong, B-W, Soraru, G, Stevanin, G, Kabashi, E, Troakes, C, van Broeckhoven, C, Veldink, JH, van den Berg, LH, Shaw, CE, Powell, JF, Al-Chalabi, A

مصطلحات موضوعية: ATXN2, SCA2, ALS, CAG, Expansion, Intermediate expansion, Trinucleotide repeat, Amyotrophic lateral sclerosis, Age of onset, Risk, Exponential risk, Triplet

Relation: NEUROBIOLOGY OF AGING; Sproviero, W., et al. (2017). "ATXN2 trinucleotide repeat length correlates with risk of ALS." Neurobiology of Aging 51: 178.e171-178.e179.; ARTN 178.e1; https://qmro.qmul.ac.uk/xmlui/handle/123456789/55500

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/55500
https://doi.org/10.1016/j.neurobiolaging.2016.11.010

المؤلفون: Cirulli, Et, Lasseigne, Bn, Petrovski, S, Sapp, Pc, Dion, Pa, Leblond, Cs, Couthouis, J, Yf, Lu, Wang, Q, Krueger, Bj, Ren, Z, Keebler, J, Han, Y, Levy, Se, Boone, Be, Wimbish, Jr, Waite, Ll, Jones, Al, Carulli, Jp, Day Williams, Ag, Staropoli, Jf, Xin, Ww, Chesi, A, Raphael, Ar, McKenna Yasek, D, Cady, J, Vianney de Jong, Jm, Kenna, Kp, Smith, Bn, Topp, S, Miller, J, Gkazi, A, Al Chalabi, A, van den Berg, Lh, Veldink, J, Silani, V, Ticozzi, N, Shaw, Ce, Baloh, Rh, Appel, S, Simpson, E, Lagier Tourenne, C, Pulst, Sm, Gibson, S, Trojanowski, Jq, Elman, L, Mccluskey, L, Grossman, M, Shneider, Na, Chung, Wk, Ravits, Jm, Glass, Jd, Sims, Kb, Van Deerlin, Vm, Maniatis, T, Hayes, Sd, Ordureau, A, Swarup, S, Landers, J, Baas, F, Allen, As, Bedlack, Rs, Harper, Jw, Gitler, Ad, Rouleau, Ga, Brown, R, Harms, Mb, Cooper, Gm, Harris, T, Myers, Rm, Goldstein, Db, Soraru', Gianni, Sequencing Consortium, Fals

المساهمون: Other departments, ANS - Amsterdam Neuroscience, Genome Analysis, Human Genetics

المصدر: Science, 347(6229), 1436-1441. American Association for the Advancement of Science

مصطلحات موضوعية: Adult, Male, Risk, Adolescent, Sequence analysis, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Young Adult, TANK-binding kinase 1, Transcription Factor TFIIIA, Sequestosome-1 Protein, Autophagy, medicine, Humans, Exome, Genetic Predisposition to Disease, Amyotrophic lateral sclerosis, Gene, Genetic Association Studies, Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, Optineurin, Aged, 80 and over, Genetics, Multidisciplinary, Amyotrophic Lateral Sclerosis, Membrane Transport Proteins, Sequence Analysis, DNA, Middle Aged, medicine.disease, Genes, Female, Protein Binding

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6005d4ebc97b8f387178b3a7dbb1fe
https://doi.org/10.1126/science.aaa3650

المؤلفون: Jovičić, A, Mertens, J, Boeynaems, S, Bogaert, Elke, Chai, N, Yamada, SB, Paul, JW, Sun, S, Herdy, JR, Bieri, G, Kramer, NJ, Gage, FH, Van Den Bosch, L, Robberecht, W, Gitler, AD

المصدر: NATURE NEUROSCIENCE ; ISSN: 1097-6256 ; ISSN: 1546-1726

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

Relation: https://biblio.ugent.be/publication/01GXBG7ZAFM5NT3GYFWC10KR7P; http://hdl.handle.net/1854/LU-01GXBG7ZAFM5NT3GYFWC10KR7P; http://dx.doi.org/10.1038/nn.4085

الاتاحة: https://biblio.ugent.be/publication/01GXBG7ZAFM5NT3GYFWC10KR7P
http://hdl.handle.net/1854/LU-01GXBG7ZAFM5NT3GYFWC10KR7P
https://doi.org/10.1038/nn.4085

المؤلفون: Akimoto, C, Volk, AE, van Blitterswijk, M, Van den Broeck, M, Leblond, CS, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, DC, Just, W, Daoud, H, Angerbauer, S, DeJesus-Hernandez, M, Konno, T, Lloyd-Jani, A, de Carvalho, M, Mouzat, K, Landers, JE, Veldink, JH, Silani, V, Gitler, AD, Shaw, CE, Rouleau, GA, van den Berg, LH, Van Broeckhoven, C, Rademakers, R, Andersen, PM, Kubisch, C

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of medical genetics

مصطلحات موضوعية: Male, medicine.medical_specialty, C9orf72, Internal medicine, Genotype, Motor neurone disease, Methods, Genetics, medicine, Humans, In patient, Genetic Testing, Molecular genetics, Genotyping, Genetics (clinical), Reliability (statistics), Genetic testing, Southern blot, C9orf72 Protein, medicine.diagnostic_test, business.industry, Amyotrophic Lateral Sclerosis, Proteins, Reproducibility of Results, Gold standard (test), Clinical Laboratory Services, Neurology, Frontotemporal Dementia, Female, Human medicine, business

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b956165adffc96021c985bf49b25688
https://hdl.handle.net/10451/51170

المؤلفون: Lee T, Li YR, Chesi A, Hart MP, Ramos D, Jethava N, Hosangadi D, Epstein J, Hodges B, Bonini NM, Gitler AD, Lee, T, Li, Y R, Chesi, A, Hart, M P, Ramos, D, Jethava, N, Hosangadi, D, Epstein, J, Hodges, B

المصدر: Neurology; 6/14/2011, Vol. 76 Issue 24, p2062-2065, 4p