المؤلفون: Nishimura S, Ma C, Sidransky E, Ryan E

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 21, Pp 93-101 (2025)

مصطلحات موضوعية: gaucher disease, newborn screening, diagnosis, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.dovepress.com/obstacles-to-early-diagnosis-of-gaucher-disease-peer-reviewed-fulltext-article-TCRM; https://doaj.org/toc/1178-203X

URL الوصول: https://doaj.org/article/54d53cb1ea3445cf9c2fb3bf3c4ee289

المؤلفون: Hertz, E, Thornqvist, M, Holmberg, B, Machaczka, M, Sidransky, E, Svenningsson, P

المصدر: Movement disorders clinical practice. 6(3):254-258

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:148644030

المؤلفون: Wu LY, Real R, Martinez-Carrasco A, Chia R, Lawton MA, Shoai M, Bresner C, Blauwendraat C, Singleton AB, Ryten M, Scholz SW, Traynor BJ, Williams NM, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR, Abramzon Y, Ahmed S, Alba C, Albert MS, Bacikova D, Barrett MJ, Beach TG, Bennett DA, Besser LM, Bigio EH, Boeve BF, Bohannan RC, Caraway CA, Palma J-A, Dalgard CL, Dickson D, Ding J, Faber K, Ferman T, Ferrucci L, Flanagan ME, Foroud TM, Ghetti B, Gibbs JR, Goate A, Goldstein D, Graff-Radford NR, Hu H-C, Hupalo D, Kaiser SM, Kaufmann H, Kim RC, Klein G, Kukull W, Kuzma A, Leverenz J, Lopez G, Mao Q, Martinez-McGrath E, Masliah E, Monuki E, Newell KL, Norcliffe-Kaufmann L, Perkins M, Pletnikova O, Renton AE, Resnick SM, Ross OA, Sabir MS, Scherzer CR, Serrano G, Shakkotai V, Sidransky E, Tanaka T, Tayebi N, Troncoso JC, Viollet C, Walton RL, Woltjer R, Wszolek ZK, Black SE, Gan-Or Z, Keith J, Masellis M, Rogaeva E, Aarsland D, Al-Sarraj S, Attems J, Ferrari R, Gentleman S, Hardy JA, Hodges AK, Love S, McKeith I, Morris CM, Palmer L, Pickering-Brown S, Reynolds RH, Thomas AJ, Tilley BS, Troakes C, Brett F, Brice A, Duyckaerts C, Lesage S, Brunetti M, Calvo A, Canosa A, Chio A, Floris G, Logroscino G, Zecca C, Clarimon J, Diez-Fairen M, Fortea J, Gonzalez-Aramburu I, Infante J, Lage C, Lleo A, Pastor P, Porcel-Molina L, Rodriguez-Rodriguez E, Sanchez-Juan P, Kruger R, May P, Xiromerisiou G

المصدر: Brain Communications, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/299856; https://eprints.ncl.ac.uk/fulltext.aspx?url=299856/6915F4A9-6546-4C06-9F48-B4F9CBFB9CB9.pdf&pub_id=299856

الاتاحة: https://eprints.ncl.ac.uk/299856

المؤلفون: Chia, R, Sabir, MS, Bandres-Ciga, S, Saez-Atienzar, S, Reynolds, RH, Gustavsson, E, Walton, RL, Ahmed, S, Viollet, C, Ding, JH, Makarious, MB, Diez-Fairen, M, Portley, MK, Shah, Z, Abramzon, Y, Hernandez, DG, Blauwendraat, C, Stone, DJ, Eicher, J, Parkkinen, L, Ansorge, O, Clark, L, Honig, LS, Marder, K, Lemstra, A, St George-Hyslop, P, Londos, E, Morgan, K, Lashley, T, Warner, TT, Jaunmuktane, Z, Galasko, D, Santana, I, Tienari, PJ, Myllykangas, L, Oinas, M, Cairns, NJ, Morris, JC, Halliday, GM, Van Deerlin, VM, Trojanowski, JQ, Grassano, M, Calvo, A, Mora, G, Canosa, A, Floris, G, Bohannan, RC, Brett, F, Gan-Or, Z, Geiger, JT, Moore, A, May, P, Kruger, R, Goldstein, DS, Lopez, G, Tayebi, N, Sidransky, E, Norcliffe-Kaufmann, L, Palma, JA, Kaufmann, H, Shakkottai, VG, Perkins, M, Newell, KL, Gasser, T, Schulte, C, Landi, F, Salvi, E, Cusi, D, Masliah, E, Kim, RC, Caraway, CA, Monuki, ES, Brunetti, M, Dawson, TM, Rosenthal, LS, Albert, MS, Pletnikova, O, Troncoso, JC, Flanagan, ME, Mao, QW, Bigio, EH, Rodriguez-Rodriguez, E, Infante, J, Lage, C, Gonzalez-Aramburu, I, Sanchez-Juan, P, Ghetti, B, Keith, J, Black, SE, Masellis, M, Rogaeva, E, Duyckaerts, C, Brice, A, Lesage, S, Xiromerisiou, G, Barrett, MJ, Tilley, BS, Gentleman, S, Logroscino, G, Serrano, GE, Beach, TG, McKeith, IG, Thomas, AJ, Attems, J, Morris, CM, Palmer, L, Love, S, Troakes, C, Al-Sarraj, S, Hodges, AK, Aarsland, D, Klein, G, Kaiser, SM, Woltjer, R, Pastor, P, Bekris, LM, Leverenz, JB, Besser, LM, Kuzma, A, Renton, AE, Goate, A, Bennett, DA, Scherzer, CR, Morris, HR, Ferrari, R, Albani, D, Pickering-Brown, S, Faber, K, Kukull, WA, Morenas-Rodriguez, E, Lleo, A, Fortea, J, Alcolea, D, Clarimon, J, Nalls, MA, Ferrucci, L, Resnick, SM, Tanaka, T, Foroud, TM, Graff-Radford, NR, Wszolek, ZK, Ferman, T, Boeve, BF, Hardy, JA, Topol, EJ, Torkamani, A, Singleton, AB, Ryten, M, Dickson, DW, Chio, A, Ross, OA, Gibbs, JR, Dalgard, CL, Traynor, BJ, Scholz, SW

المصدر: Nature genetics. 53(3):294

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145946125

المؤلفون: Sidransky, E, Burgess, C, Ikeuchi, T, Lindblad, K, Long, RT, Philibert, RA, Rapoport, J, Schalling, M, Tsuji, S, Ginns, EI

المصدر: American journal of human genetics. 62(6):1548-1551

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:14968498

المؤلفون: Kaivola, K, Shah, Z, Chia, R, Black, SE, Gan-Or, Z, Keith, J, Masellis, M, 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, Albert, MS, Barrett, MJ, Beach, TG, Bekris, LM, Bennett, DA, Boeve, BF, Dalgard, CL, Dawson, TM, Dickson, DW, Faber, K, Ferman, T, Ferrucci, L, Flanagan, ME, Foroud, TM, Ghetti, B, Gibbs, JR, Goate, A, Goldstein, DS, Graff-Radford, NR, Kaufmann, H, Kukull, WA, Leverenz, JB, Mao, Q, Masliah, E, Monuki, E, Newell, KL, Palma, JA, Pletnikova, O, Renton, AE, Resnick, SM, Rosenthal, LS, Ross, OA, Scherzer, CR, Serrano, GE, Shakkottai, VG, Sidransky, E, Tanaka, T, Topol, E, Torkamani, A, Troncoso, JC, Woltjer, R, Wszolek, ZK, Scholz, SW

المصدر: Brain , 145 (5) pp. 1757-1762. (2022)

مصطلحات موضوعية: Dementia with Lewy bodies, APOE, Alzheimer’s disease, co-pathology

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10163510/1/DLB_APOE__manuscript.docx.pdf; https://discovery.ucl.ac.uk/id/eprint/10163510/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10163510/1/DLB_APOE__manuscript.docx.pdf
https://discovery.ucl.ac.uk/id/eprint/10163510/

المؤلفون: Schiffmann, R, Sevigny, J, Rolfs, A, Davies, EH, Goker-Alpan, O, Abdelwahab, M, Vellodi, A, Mengel, E, Lukina, E, Yoo, H-W, Collin-Histed, T, Narita, A, Dinur, T, Revel-Vilk, S, Arkadir, D, Szer, J, Wajnrajch, M, Ramaswami, U, Sidransky, E, Donald, A, Zimran, A

Relation: Schiffmann, R., Sevigny, J., Rolfs, A., Davies, E. H., Goker-Alpan, O., Abdelwahab, M., Vellodi, A., Mengel, E., Lukina, E., Yoo, H. -W., Collin-Histed, T., Narita, A., Dinur, T., Revel-Vilk, S., Arkadir, D., Szer, J., Wajnrajch, M., Ramaswami, U., Sidransky, E. ,. Zimran, A. (2020). The definition of neuronopathic Gaucher disease. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (5), pp.1056-1059. https://doi.org/10.1002/jimd.12235.; http://hdl.handle.net/11343/251458

الاتاحة: http://hdl.handle.net/11343/251458

المؤلفون: Whitley C. B., Belur L., Bigger B., Braunlin E., Brooks P. J., Brown A. R., Diethelm-Okita B., Giugliani R., Jarnes J. R., Meader A., Morris J. A., Ramaswami U., Saterdalen D. C., Scarpa M., Sidransky E., Smpokou P., Tagle D.

المساهمون: Whitley, C. B., Belur, L., Bigger, B., Braunlin, E., Brooks, P. J., Brown, A. R., Diethelm-Okita, B., Giugliani, R., Jarnes, J. R., Meader, A., Morris, J. A., Ramaswami, U., Saterdalen, D. C., Scarpa, M., Sidransky, E., Smpokou, P., Tagle, D.

Relation: volume:135; issue:2; firstpage:S1; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/11577/3486200; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123950167

الاتاحة: https://hdl.handle.net/11577/3486200
https://doi.org/10.1016/j.ymgme.2021.11.013

المؤلفون: Whitley, C. B., Belur, L., Bigger, B., Braunlin, E., Brooks, P. J., Brown, A. R., Diethelm-Okita, B., Giugliani, R., Jarnes, J. R., Meader, A., Morris, J. A., Ramaswami, U., Saterdalen, D. C., Scarpa, M., Sidransky, E., Smpokou, P., Tagle, D.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3657::2010eeae8e0c7ae6c42e106776e9e26c
https://hdl.handle.net/11577/3486200

المؤلفون: Plagnol, V, Nalls, M, Bras, J, Hernandez, D, Sharma, M, Sheerin, U, Saad, M, Simon-Sanchez, J, Schulte, C, Lesage, S, Sveinbjornsdottir, S, Amouyel, P, Arepalli, S, Band, G, Barker, R, Bellinguez, C, Ben-Shlomo, Y, Berendse, H, Berg, D, Bhatia, K, de Bie, R, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Brockmann, K, Brooks, J, Burn, D, Charlesworth, G, Chen, H, Chinnery, P, Chong, S, Clarke, C, Cookson, MR, Cooper, J, Corvol, J, Counsell, C, Damier, P, Dartigues, J, Deloukas, P, Deuschl, G, Dexter, D, van Dijk, K, Dillman, A, Durif, F, Duerr, A, Edkins, S, Evans, JR, Foltynie, T, Freeman, C, Gao, J, Gardner, M, Gibbs, JR, Goate, A, Gray, E, Guerreiro, R, Gustafsson, O, Harris, C, Hellenthal, G, van Hilten, J, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, X, Huber, H, Hudson, G, Hunt, SE, Huttenlocher, J, Illig, T, Jonsson, P, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, McNeill, A, Moorby, C, Moore, M, Morris, H, Morrison, K, Mudanohwo, E, O'Sullivan, S, Pearson, J, Pearson, R, Perlmutter, J, Petursson, H, Pirinen, M, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, de Silva, R, Smith, C, Spencer, C, Stefansson, H, Steinberg, S, Stockton, J, Strange, A, Su, Z, Talbot, K, Tanner, C, Tashakkori-Ghanbaria, A, Tison, F, Trabzuni, D, Traynor, B, Uitterlinden, A, Vandrovcova, J, Velseboer, D, Vidailhet, M, Vukcevic, D, Walker, R, van de Warrenburg, B, Weale, M, Wickremaratchi, M, Williams, N, Williams-Gray, C, Winder-Rhodes, S, Stefansson, K, Martinez, M, Donnelly, P, Singleton, AB, Hardy, J, Heutink, P, Brice, A, Gasser, T, Wood, N, WTCCC2

Relation: https://ora.ox.ac.uk/objects/uuid:81e94003-ee1f-4793-bda6-320ee94b2593; https://doi.org/10.1371/journal.pgen.1002142

الاتاحة: https://doi.org/10.1371/journal.pgen.1002142
https://ora.ox.ac.uk/objects/uuid:81e94003-ee1f-4793-bda6-320ee94b2593

المؤلفون: Burgess, CE, Lindblad, K, Sidransky, E, Yuan, QP, Long, RT, Breschel, T, Ross, CA, McInnis, M, Lee, P, Ginns, EI, Lenane, M, Kumra, S, Jacobsen, L, Rapoport, JL, Schalling, M

المصدر: Molecular psychiatry. 3(4):321-327

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1948994

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

Relation: 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/2318/1778123; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097045939

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

المؤلفون: Vollstedt, E, Kasten, M, Klein, C, Aasly, J, Adler, C, Ahmad-Annuar, A, Albanese, A, Alcalay, R, Al-Mubarak, B, Alvarez, V, Andree-Munoz, B, Annesi, G, Appel-Cresswell, S, Arkadir, D, Armasu, S, Barber, T, Bardien, S, Barkhuizen, M, Barrett, M, Basak, A, Beach, T, Benitez, B, Berg, D, Bhatia, K, Binkofski, F, Blauwendraat, C, Bonifati, V, Borges, V, Bozi, M, Brice, A, Brighina, L, Brockmann, K, Brucke, T, Bruggemann, N, Camacho, M, Cardoso, F, Belin, A, Carr, J, Chan, P, Chang-Castello, J, Chase, B, Chen-Plotkin, A, Ju Chung, S, Cilia, R, Clarimon, J, Clark, L, Cornejo-Olivas, M, Corvol, J, Cosentino, C, Cras, P, Crosiers, D, Damasio, J, Das, P, de Carvalho Aguiar, P, De Michele, G, De Rosa, A, Dieguez, E, Dorszewska, J, Erer, S, Ertan, S, Farrer, M, Fedotova, E, Ferese, R, Ferrarese, C, Ferraz, H, Fiala, O, Foroud, T, Friedman, A, Frigerio, R, Funayama, M, Gambardella, S, Garraux, G, Gatto, E, Genc, G, Giladi, N, Goldwurm, S, Gomez-Esteban, J, Gomez-Garre, P, Gorostidi, A, Grosset, D, Hanagasi, H, Hardy, J, Hassan, A, Hattori, N, Hauser, R, Hedera, P, Hentati, F, Hertz, J, Holton, J, Houlden, H, Hutz, M, Ikeuchi, T, Illarioshkin, S, Inca-Martinez, M, Infante, J, Jankovic, J, Jeon, B, Jesus, S, Jimenez-Del-Rio, M, Kaasinen, V, Kataoka, H, Kawakami, H, Kim, Y, Klivenyi, P, Koks, S, Konig, I, Kostic, V, Koziorowski, D, Kruger, R, Krygowska-Wajs, A, Kulisevsky, J, Lai, D, Lang, A, Ledoux, M, Lesage, S, Lim, S, Lin, C, Lohmann, K, Lopera, F, Lopez, G, Lu, C, Lynch, T, Machaczka, M, Madoev, H, Magalhaes, M, Majamaa, K, Maraganore, D, Marder, K, Markopoulou, K, Martikainen, M, Mata, I, Mazzetti, P, Mellick, G, Menendez-Gonzalez, M, Micheli, F, Mirelman, A, Mir, P, Morino, H, Morris, H, Munhoz, R, Naito, A, Olszewska, D, Ozelius, L, Padmanabhan, S, Paisan-Ruiz, C, Payami, H, Peluso, S, Petkovic, S, Petrucci, S, Pezzoli, G, Pimentel, M, Pirker, W, Pramstaller, P, Pulkes, T, Puschmann, A, Quattrone, A, Raggio, V, Ransmayr, G, Rieder, C, Riess, O, Rodriguez-Porcel, F, Rogaeva, E, Ross, O, Ruiz-Martinez, J, Sammler, E, San Luciano, M, Satake, W, Saunders-Pullman, R, Sazci, A, Scherzer, C, Schrag, A, Schumacher-Schuh, A, Sharma, M, Sidransky, E, Singleton, A, Petersen, M, Smolders, S, Spitz, M, Stefanis, L, Struhal, W, Sue, C, Swan, M, Swanberg, M, Taba, P, Taipa, R, Tan, M, Tan, A, Tan, E, Tang, B, Tayebi, N, Thaler, A, Thomas, A, Toda, T, Toft, M, Torres, L, Tumas, V, Valente, E, Van Broeckhoven, C, Vecsei, L, Velez-Pardo, C, Vidailhet, M, Warner, T, Williams-Gray, C, Winkelmann, J, Woitalla, D, Wood, N, Wszolek, Z, Wu, R, Wu, Y, Xie, T, Yoshino, H, Zhang, B, Zimprich, A, Vollstedt E. -J., Kasten M., Klein C., Aasly J., Adler C., Ahmad-Annuar A., Albanese A., Alcalay R. N., Al-Mubarak B., Alvarez V., Andree-Munoz B., Annesi G., Appel-Cresswell S., Arkadir D., Armasu S., Barber T. R., Bardien S., Barkhuizen M., Barrett M. J., Basak A. N., Beach T., Benitez B. A., Berg D., Bhatia K., Binkofski F., Blauwendraat C., Bonifati V., Borges V., Bozi M., Brice A., Brighina L., Brockmann K., Brucke T., Bruggemann N., Camacho M., Cardoso F., Belin A. C., Carr J., Chan P., Chang-Castello J., Chase B., Chen-Plotkin A., Ju Chung S., Cilia R., Clarimon J., Clark L., Cornejo-Olivas M., Corvol J. -C., Cosentino C., Cras P., Crosiers D., Damasio J., Das P., de Carvalho Aguiar P., De Michele G., De Rosa A., Dieguez E., Dorszewska J., Erer S., Ertan S., Farrer M., Fedotova E., Ferese R., Ferrarese C., Ferraz H., Fiala O., Foroud T., Friedman A., Frigerio R., Funayama M., Gambardella S., Garraux G., Gatto E. M., Genc G., Giladi N., Goldwurm S., Gomez-Esteban J. C., Gomez-Garre P., Gorostidi A., Grosset D., Hanagasi H., Hardy J., Hassan A., Hattori N., Hauser R. A., Hedera P., Hentati F., Hertz J. M., Holton J. L., Houlden H., Hutz M. H., Ikeuchi T., Illarioshkin S., Inca-Martinez M., Infante J., Jankovic J., Jeon B. S., Jesus S., Jimenez-Del-Rio M., Kaasinen V., Kataoka H., Kawakami H., Kim Y. J., Klivenyi P., Koks S., Konig I. R., Kostic V., Koziorowski D., Kruger R., Krygowska-Wajs A., Kulisevsky J., Lai D., Lang A., LeDoux M., Lesage S., Lim S. -Y., Lin C. -H., Lohmann K., Lopera F., Lopez G., Lu C. -S., Lynch T., Machaczka M., Madoev H., Magalhaes M., Majamaa K., Maraganore D., Marder K., Markopoulou K., Martikainen M. H., Mata I., Mazzetti P., Mellick G., Menendez-Gonzalez M., Micheli F., Mirelman A., Mir P., Morino H., Morris H., Munhoz R. P., Naito A., Olszewska D. A., Ozelius L. J., Padmanabhan S., Paisan-Ruiz C., Payami H., Peluso S., Petkovic S., Petrucci S., Pezzoli G., Pimentel M., Pirker W., Pramstaller P. P., Pulkes T., Puschmann A., Quattrone A., Raggio V., Ransmayr G., Rieder C., Riess O., Rodriguez-Porcel F., Rogaeva E., Ross O. A., Ruiz-Martinez J., Sammler E., San Luciano M., Satake W., Saunders-Pullman R., Sazci A., Scherzer C., Schrag A., Schumacher-Schuh A., Sharma M., Sidransky E., Singleton A. B., Petersen M. S., Smolders S., Spitz M., Stefanis L., Struhal W., Sue C. M., Swan M., Swanberg M., Taba P., Taipa R., Tan M., Tan A. H., Tan E. -K., Tang B., Tayebi N., Thaler A., Thomas A., Toda T., Toft M., Torres L., Tumas V., Valente E. M., Van Broeckhoven C., Vecsei L., Velez-Pardo C., Vidailhet M., Warner T. T., Williams-Gray C. H., Winkelmann J., Woitalla D., Wood N. W., Wszolek Z. K., Wu R. -M., Wu Y. -R., Xie T., Yoshino H., Zhang B., Zimprich A.

مصطلحات الفهرس: genetic, Parkinson desease, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/279948
info:eu-repo/semantics/altIdentifier/wos/WOS:000475670500001
volume:86
issue:2
firstpage:153
lastpage:157
numberofpages:5
journal:ANNALS OF NEUROLOGY

المؤلفون: Klebe, S. (Stephan), Golmard, L. (Lisa), Nalls, M.A. (Michael), Saad, F. (Fred), Singleton, A. (Andrew), Bras, J. (Jose), Hardy, J. (John), Simón-Sánchez, J. (Javier), Heutink, P. (Peter), Kuhlenbäumer, G. (Gregor), Charfi, R. (Rim), Klein, C. (Christoph), Hagenah, J., Gasser, T. (Thomas), Wurster, K.D. (Kathrin), Lesage, S. (Suzanne), Lorenz, D. (Delia), Deuschl, G. (Günther), Durif, F. (Franck), Pollak, M.N. (Michael), Damier, P. (Philippe), Tison, F. (François), Durr, A., Amouyel, P. (Philippe), Lambert, J.C. (Jean Charles), Tzourio, C. (Christophe), Maubaret, C. (Cécilia), Charbonnier-Beaupel, F. (Fanny), Tahiri, K. (Khadija), Vidailhet, M. (M.), Martinez, M. (Maria), Brice, A., Corvol, J.C. (Jean-Christophe), Agid, Y. (Yves), Anheim, M. (M.), Bonnet, A.-M. (A.), Borg, M. (Michael), Broussolle, E. (E.), Corvol, J.C. (Jean Christophe), Damier, Ph. (Ph), Destée, A. (A.), Durif, F. (F.), Klebe, S. (S.), Lohmann, E. (E.), Penet, C. (C.), Krack, P. (P.), Rascol, O. (O.), Tison, F. (F.), Tranchant, C. (C.), Vérin, M. (M.), Viallet, F. (F.), Vidailhet, M. (Marie), Plagnol, V. (Vincent), Bras, J.M. (Jose), Hernandez, D.G. (Dena), Sharma, M., Sheerin, U.-M. (Una-Marie), Schulte, C. (Claudia), Sveinbjörnsdóttir, S. (Sigurlaug), Arepalli, S. (Sampath), Band, G. (Gavin), Vukcevic, D. (Damjan), Barker, R.A. (Roger), Bellinguez, C. (Céline), Ben-Shlomo, Y., Berendse, H.W. (Henk W.), Berg, D. (Daniela), Bhatia, K.P. (Kailash), Bie, R.M.A. (Rob) de, Biffi, A. (Alessandro), Bloem, B. (Bas), Bochdanovits, Z. (Zoltan), Bonin, M. (Malte) von, Brockmann, K., Brooks, J. (Janet), Burn, D.J. (David), Charlesworth, K. (Kate), Chen, H. (Honglei), Chinnery, P.F. (Patrick), Chong, S. (Sean), Clarke, C.E. (Carl), Cookson, M.R. (Mark), Cooper, J.M. (J. Mark), Counsell, C. (Carl), Dartigues, J.-F., Deloukas, P. (Panagiotis), Dexter, D.T. (David), Dijk, K.D. (Karin) van, Dillman, A. (Allissa), Durif, F. (Frank), Edkins, T. (Ted), Evans, J. (Jonathan Mark), Foltynie, T. (Thomas), Freeman, C. (Colin), Gao, J. (Jianjun), Gardner, M. (Mac), Gibbs, J. (Raphael), Goate, A.M. (Alison), Gray, E. (Emma), Guerreiro, R. (Rita), Gustafsson, O. (Omar), Harris, C. (Clare), Hellenthal, F.A., Hilten, J.J. (Jacobus) van, Hofman, A. (Albert), Hollenbeck, J.R. (John R.), Holton, J.L. (Janice), Hu, M. (Michele), Huang, X. (Xiaohong), Huber, H. (Heiko), Hudson, G. (Gavin), Hunt, S.E. (Sarah), Huttenlocher, J. (Johanna), Illig, T. (Thomas), Jónsson, P.V. (Pálmi), Langford, C. (Cordelia), Lees, A.J. (Andrew), Lichtner, P. (Peter), Limousin, P. (Patricia), Lopez, G., McNeill, N.H. (Nathan), Moorby, C. (Catriona), Moore, M. (Matt), Morris, H. (Huw), Morrison, K.E. (Karen), Mudanohwo, E. (Ese), O'Sullivan, S.S. (Sean), Pearson, J. (Justin), Pearson, R. (Ruth), Perlmutter, J.S. (Joel), Pétursson, H. (Hjörvar), Pirinen, M. (Matti), Post, B. (Bart), Ravina, B. (Bernard), Revesz, T. (Tamas), Riess, O. (Olaf), Rivadeneira Ramirez, F. (Fernando), Rizzu, P. (Patrizia), Ryten, M. (Mina), Sawcer, S.J. (Stephen), Schapira, A.H.V. (Anthony), Scheffer, H. (Hans), Shaw, K. (Karen), Shoulson, I. (Ira), Sidransky, E. (Ellen), Silva, R. (Rohan) de, Smith, C. (Colin), Spencer, C.C.A. (Chris C.), Stefansson, H. (Hreinn), Wolf, C. (Christiane), Stockton, J.D. (Joanna), Strange, A. (Amy), Su, Z. (Zhan), Talbot, D., Tanner, C.M. (Carlie), Tashakkori-Ghanbaria, A. (Avazeh), Trabzuni, D. (Danyah), Traynor, B.J. (Bryan), Uitterlinden, A.G. (André), Vandrovcova, J. (Jana), Velseboer, D. (Daan), Walker, R. (Robert), Warrenburg, B. (Bart) van de, Weale, M.E. (Michael), Wickremaratchi, M. (Mirdhu), Williams, N. (Nigel), Williams-Gray, C.H. (Caroline), Winder-Rhodes, S. (Sophie), Zwart, J-A. (John-Anker), Wood, N.W. (Nicholas)

المصدر: Journal of Neurology, Neurosurgery and Psychiatry: an international peer-reviewed journal for health professionals and researchers in all areas of neurology and neurosurgery vol. 84 no. 6, pp. 666-673

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/66804; urn:hdl:1765/66804

الاتاحة: http://repub.eur.nl/pub/66804
https://doi.org/10.1136/jnnp-2012-304475

المؤلفون: Holmans, P., Moskvina, V., Jones, L., Sharma, M., Vedernikov, A., Buchel, F., Sadd, M., Bras, J.M., Bettella, F., Nicolaou, N., Simon-Sanchez, J., Mittag, F., Gibbs, J.R., Schulte, C., Durr, A., Guerreiro, R., Hernandez, D., Brice, A., Stefansson, H., Majamaa, K., Gasser, T., Heutink, P., Wood, N.W., Martinez, M., Singleton, A.B., Nalls, M.A., Hardy, John, Morris, Huw R., Williams, N.M., Arepalli, S., Barker, R., Barrett, J., Ben-Shlomo, Y., Berendse, H.W., Berg, D., Bhatia, K., de Bie, R.M.A., Biffi, A., Bloem, B., Bochdanovits, Z., Bonin, M., Brockmann, K., Brooks, J., Burn, D.J., Charlesworth, G., Chen, H., Chinnery, P. F., Chong, S., Clarke, C. E., Cookson, M.R., Cooper, J.M., Corvol, J.-C., Counsell, C., Damier, P., Dartigues, J.F., Deloukas, P., Deuschl, G., Dexter, D.T., van Dijk, K.D., Dillman, A., Durif, F., Edkins, S., Evans, J.R., Foltynie, T., Gao, J., Gardner, M., Goate, A., Gray, E., Gustafsson, O., Harris, C., Hernandez, D.G., van Hilten, J.J., Hofman, A., Hollenbeck, A., Holton, J., Hu, M., Huber, H., Hudson, G., Hunt, S.E., Huttenlocher, J., Illig, T., Langford, C., Lees, A., Lesage, S., Lichtner, P., Limousin, P., Lopez, G., Lorenz, D., McNeill, A., Moorby, C., Moore, M., Morrison, K.E., Mudanohwo, E., Pearson, J., Perlmutter, J.S., Petursson, H., Plagnol, V., Pollak, P., Post, B., Potter, S., Ravina, B., Revesz, T., Riess, O., Rivadeneira, F., Rizzu, P., Ryten, M., Saad, M., Sawcer, S., Schapira, A., Scheffer, H., Shaw, K., Sheerin, U.-M., Shoulson, I., Sidransky, E., Smith, C., Stefansson, K., Steinberg, S., Stockton, J.D., Sveinbjornsdottir, S., Talbot, K., Tanner, C.M., Tashakkori-Ghanbaria, A., Tison, F., Trabzuni, D., Traynor, B.J., Uitterlinden, A.G., Velseboer, D., Vidailhet, M., Walker, R., van de Warrenburg, B., Wickremaratchi, M., Williams, N., Williams-Gray, C.H., Winder-Rhodes, S., Wood, N.

المصدر: Holmans , P , Moskvina , V , Jones , L , Sharma , M , Vedernikov , A , Buchel , F , Sadd , M , Bras , J M , Bettella , F , Nicolaou , N , Simon-Sanchez , J , Mittag , F , Gibbs , J R , Schulte , C , Durr , A , Guerreiro , R , Hernandez , D , Brice , A , Stefansson , H , Majamaa , K , Gasser , T , Heutink , P , Wood , N W , Martinez , M , ....

الاتاحة: https://pure.qub.ac.uk/en/publications/91a0be48-7a14-40f5-b4ac-36d3079d8752
https://doi.org/10.1093/hmg/dds492

المؤلفون: Saranjam, HR, Sidransky, E, Levine, WZ, Zimran, A, Elstein, D

المصدر: Oral Diseases ; volume 18, issue 5, page 421-429 ; ISSN 1354-523X 1601-0825

الاتاحة: http://dx.doi.org/10.1111/j.1601-0825.2011.01898.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1601-0825.2011.01898.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1601-0825.2011.01898.x

المؤلفون: Plagnol, V, Nalls, MA, Bras, JM, Hernandez, DG, Sharma, M, Sheerin, UM, Saad, M, Simon-Sanchez, J, Schulte, C, Lesage, S, Sveinbjornsdottir, S, Amouyel, P, Arepalli, S, Band, G, Barker, RA, Bellinguez, C, Ben-Shlomo, Y, Berendse, HW, Berg, D, Bhatia, K, de Bie, RMA, Biffi, A, Bloem, B, Bochdanovits, Z, Bonin, M, Brockmann, K, Brooks, J, Burn, DJ, Charlesworth, G, Chen, HL, Chinnery, PF, Chong, S, Clarke, CE, Cookson, MR, Cooper, JM, Corvol, JC, Counsell, C, Damier, P, Dartigues, JF, Deloukas, P, Deuschl, G, Dexter, DT, van Dijk, KD, Dillman, A, Durif, F, Durr, A, Edkins, S, Evans, JR, Foltynie, T, Freeman, C, Gao, JJ, Gardner, M, Gibbs, JR, Goate, A, Gray, E, Guerreiro, R, Gustafsson, O, Harris, C, Hellenthal, G, van Hilten, JJ, Hofman, A, Hollenbeck, A, Holton, J, Hu, M, Huang, XM, Huber, H, Hudson, G, Hunt, SE, Huttenlocher, J, Illig, T, Jonsson, PV, Langford, C, Lees, A, Lichtner, P, Limousin, P, Lopez, G, Lorenz, D, McNeill, A, Moorby, C, Moore, M, Morris, H, Morrison, KE, Mudanohwo, E, O'Sullivan, SS, Pearson, J, Pearson, R, Perlmutter, JS, Petursson, H, Pirinen, M, Pollak, P, Post, B, Potter, S, Ravina, B, Revesz, T, Riess, O, Rivadeneira, F, Rizzu, P, Ryten, M, Sawcer, S, Schapira, A, Scheffer, H, Shaw, K, Shoulson, I, Sidransky, E, de Silva, R, Smith, C, Spencer, CCA, Stefansson, H, Steinberg, S, Stockton, JD, Strange, A, Su, Z, Talbot, K, Tanner, CM, Tashakkori-Ghanbaria, A, Tison, F, Trabzuni, D, Traynor, BJ, Uitterlinden, AG, Vandrovcova, J, Velseboer, D, Vidailhet, M, Vukcevic, D, Walker, R, van de Warrenburg, B, Weale, ME, Wickremaratchi, M, Williams, N, Williams-Gray, CH, Winder-Rhodes, S, Stefansson, K, Martinez, M, Donnelly, P, Singleton, AB, Hardy, J, Heutink, P, Brice, A, Gasser, T, Wood, NW, WTCCC2

المصدر: PLoS Genetics , 7 (6) , Article e1002142. (2011)

مصطلحات موضوعية: genome-wide association, fibroblast-growth-factor, alpha-synuclein, gene, mutations, risk, population, haplotypes, variants, sequence

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1321806/1/journal.pgen.1002142.pdf; https://discovery.ucl.ac.uk/id/eprint/1321806/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1321806/1/journal.pgen.1002142.pdf
https://discovery.ucl.ac.uk/id/eprint/1321806/

المؤلفون: Brás, JM, Paisan-Ruiz, C, Guerreiro, C, Ribeiro, MH, Morgadinho, A, Januário, C, Sidransky, E, Oliveira, CR, Singleton, A

مصطلحات موضوعية: Doença de Parkinson, Predisposição Genética para Doença, Glucosilceramidase

Relation: Neurobiol Aging. 2009 Sep;30(9):1515-7.; http://hdl.handle.net/10400.4/896

الاتاحة: http://hdl.handle.net/10400.4/896

المؤلفون: Goker-Alpan, O, Hruska, K S, Orvisky, E, Kishnani, P S, Stubblefield, B K, Schiffmann, R, Sidransky, E

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/42/6/e37; http://dx.doi.org/10.1136/jmg.2004.028019

الاتاحة: http://jmg.bmj.com/cgi/content/short/42/6/e37
https://doi.org/10.1136/jmg.2004.028019

المؤلفون: Stone, D L, Carey, W F, Christodoulou, J, Sillence, D, Nelson, P, Callahan, M, Tayebi, N, Sidransky, E

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://fn.bmj.com/cgi/content/short/82/2/F163; http://dx.doi.org/10.1136/fn.82.2.F163

الاتاحة: http://fn.bmj.com/cgi/content/short/82/2/F163
https://doi.org/10.1136/fn.82.2.F163