المؤلفون: Manzoni, C, Kia, DA, Ferrari, R, Leonenko, G, Costa, B, Saba, V, Jabbari, E, Tan, MM, Albani, D, Alvarez, V, Alvarez, I, Andreassen, OA, Angiolillo, A, Arighi, A, Baker, M, Benussi, L, Bessi, V, Binetti, G, Blackburn, DJ, Boada, M, Boeve, BF, Borrego-Ecija, S, Borroni, B, Bråthen, G, Brooks, WS, Bruni, AC, Caroppo, P, Bandres-Ciga, S, Clarimon, J, Colao, R, Cruchaga, C, Danek, A, de Boer, SC, de Rojas, I, di Costanzo, A, Dickson, DW, Diehl-Schmid, J, Dobson-Stone, C, Dols-Icardo, O, Donizetti, A, Dopper, E, Durante, E, Ferrari, C, Forloni, G, Frangipane, F, Fratiglioni, L, Kramberger, MG, Galimberti, D, Gallucci, M, García-González, P, Ghidoni, R, Giaccone, G, Graff, C, Graff-Radford, NR, Grafman, J, Halliday, GM, Hernandez, DG, Hjermind, LE, Hodges, JR, Holloway, G, Huey, ED, Illán-Gala, I, Josephs, KA, Knopman, DS, Kristiansen, M, Kwok, JB, Leber, I, Leonard, HL, Libri, I, Lleo, A, Mackenzie, IR, Madhan, GK, Maletta, R, Marquié, M, Maver, A, Menendez-Gonzalez, M, Milan, G, Miller, BL, Morris, CM, Morris, HR, Nacmias, B, Newton, J, Nielsen, JE, Nilsson, C, Novelli, V, Padovani, A, Pal, S, Pasquier, F, Pastor, P, Perneczky, R, Peterlin, B, Petersen, RC, Piguet, O, Pijnenburg, YA, Puca, AA, Rademakers, R, Rainero, I, Reus, LM, Richardson, AM, Riemenschneider, M, Rogaeva, E, Rogelj, B, Rollinson, S, Rosen, H, Rossi, G, Rowe, JB, Rubino, E, Ruiz, A, Salvi, E, Sanchez-Valle, R, Sando, SB, Santillo, AF, Saxon, JA, Schlachetzki, JC, Scholz, SW, Seelaar, H, Seeley, WW, Serpente, M, Sorbi, S, Sordon, S, St George-Hyslop, P, Thompson, JC, Van Broeckhoven, C, Van Deerlin, VM, Van der Lee, SJ, Van Swieten, J, Tagliavini, F, van der Zee, J, Veronesi, A, Vitale, E, Waldo, ML, Yokoyama, JS, Nalls, MA, Momeni, P, Singleton, AB, Hardy, J, Escott-Price, V

المصدر: American journal of human genetics. 111(7):1316-1329

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:238889728

المؤلفون: Reho, P, Saez-Atienzar, S, Ruffo, P, Solaiman, S, Shah, ZL, Chia, RT, Kaivola, K, Traynor, BJ, Tilley, BS, Gentleman, SM, Hodges, AK, Aarsland, D, Monuki, ES, Newell, KL, Woltjer, R, Albert, MS, Dawson, TM, Rosenthal, LS, Troncoso, JC, Pletnikova, O, Serrano, GE, Beach, TG, Easwaran, HP, Scholz, SW

المصدر: Communications biology. 7(1):35

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:154671800

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: Agarwal K, Backler W, Bayram E, Bloom L, Boeve BF, Cha J-H, Denslow M, Ferman TJ, Galasko D, Galvin JE, Gomperts SN, Irizarry MC, Kantarci K, Kaushik H, Kietlinski M, Koenig A, Leverenz JB, McKeith I, McLean PJ, Montine TJ, Moose SO, O'Brien JT, Panier V, Ramanathan S, Ringel MS, Scholz SW, Small J, Sperling RA, Taylor A, Taylor J-P, Ward RA, Witten L, Hyman BT

المصدر: Alzheimer's and Dementia, 2024

Relation: https://eprints.ncl.ac.uk/296528

الاتاحة: https://eprints.ncl.ac.uk/296528

المؤلفون: Wu, LY, Real, R, Martinez-Carrasco, A, Chia, R, Lawton, MA, Shoai, M, Bresner, C, Blauwendraat, C, Singleton, AB, Ryten, M, Consortium, International Lewy Body Dementia Genomics, Scholz, SW, Traynor, BJ, Williams, NM, Hu, MTM, Ben-Shlomo, Y, Grosset, DG, Hardy, J, Morris, HR

Relation: https://ora.ox.ac.uk/objects/uuid:b532cdf8-316d-45f3-a270-ca5700d4e12d; https://doi.org/10.1093/braincomms/fcae190

الاتاحة: https://doi.org/10.1093/braincomms/fcae190
https://ora.ox.ac.uk/objects/uuid:b532cdf8-316d-45f3-a270-ca5700d4e12d

المؤلفون: Smolka, M, Paulin, LF, Grochowski, CM, Horner, DW, Mahmoud, M, Behera, S, Kalef-Ezra, E, Gandhi, M, Hong, K, Pehlivan, D, Scholz, SW, Carvalho, CMB, Proukakis, C, Sedlazeck, FJ

المصدر: Nature Biotechnology (2024)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10185347/1/s41587-023-02024-y.pdf; https://discovery.ucl.ac.uk/id/eprint/10185347/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10185347/1/s41587-023-02024-y.pdf
https://discovery.ucl.ac.uk/id/eprint/10185347/

المؤلفون: Pantazis, CB, Yang, A, Lara, E, McDonough, JA, Blauwendraat, C, Peng, LR, Oguro, H, Kanaujiya, J, Zou, JZ, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, MA, Vitale, D, Ballard, S, Qi, YA, Ramos, DM, Anderson, KM, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, MP, Aggarwal, S, Rosen, LU, Kirwan, P, Pisupati, V, Coon, SL, Scholz, SW, Priebe, T, Ottl, M, Dong, J, Meijer, M, Janssen, LJM, Lourenco, VS, van der Kant, R, Crusius, D, Paquet, D, Raulin, AC, Bu, GJ, Held, A, Wainger, BJ, Gabriele, RMC, Casey, JM, Wray, S, Abu-Bonsrah, D, Parish, CL, Beccari, MS, Cleveland, DW, Li, E, Rose, IVL, Kampmann, M, Aristoy, CC, Verstreken, P, Heinrich, L, Chen, MY, Schule, B, Dou, D, Holzbaur, ELF, Zanellati, MC, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, ZS, Matia, M, Van Lent, J, Timmerman, V, Conklin, BR, Chase, KJ, Zhang, K, Funes, S, Bosco, DA, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, GC, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, JC, Skarnes, WC, Cookson, MR, Ward, ME, Merkle, FT

المصدر: Cell stem cell. 29(12):1685

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151823838

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: Dewan, R, Chia, R, Ding, JH, Hickman, RA, Stein, TD, Abramzon, Y, Ahmed, S, Sabir, MS, Portley, MK, Tucci, A, Ibanez, K, Shankaracharya, FNU, Keagle, P, Rossi, G, Caroppo, P, Tagliavini, F, Waldo, ML, Johansson, PM, Nilsson, CF, Rowe, JB, Benussi, L, Binetti, G, Ghidoni, R, Jabbari, E, Viollet, C, Glass, JD, Singleton, AB, Silani, V, Ross, OA, Ryten, M, Torkamani, A, Tanaka, T, Ferrucci, L, Resnick, SM, Pickering-Brown, S, Brady, CB, Kowal, N, Hardy, JA, Van Deerlin, V, Vonsattel, JP, Harms, MB, Morris, HR, Ferrari, R, Landers, JE, Chio, A, Gibbs, JR, Dalgard, CL, Scholz, SW, Traynor, BJ

المصدر: Neuron. 109(3):448

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146333590

المؤلفون: Billingsley, KJ, Ding, J, Jerez, PA, Illarionova, A, Levine, K, Grenn, FP, Makarious, MB, Moore, A, Vitale, D, Reed, X, Hernandez, D, Torkamani, A, Ryten, M, Hardy, J, Chia, R, Scholz, SW, Traynor, BJ, Dalgard, CL, Ehrlich, DJ, Tanaka, T, Ferrucci, L, Beach, TG, Serrano, GE, Quinn, JP, Bubb, VJ, Collins, RL, Zhao, X, Walker, M, Pierce-Hoffman, E, Brand, H, Talkowski, ME, Casey, B, Cookson, MR, Markham, A, Nalls, MA, Mahmoud, M, Sedlazeck, FJ, Blauwendraat, C, Gibbs, JR, Singleton, AB

المصدر: Annals of Neurology (2023) (In press).

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10165863/1/Genome%20Wide%20Analysis%20of%20Structural%20Variants%20in%20Parkinson%20Disease.pdf; https://discovery.ucl.ac.uk/id/eprint/10165863/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10165863/1/Genome%20Wide%20Analysis%20of%20Structural%20Variants%20in%20Parkinson%20Disease.pdf
https://discovery.ucl.ac.uk/id/eprint/10165863/

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

Relation: BRAIN; https://qmro.qmul.ac.uk/xmlui/handle/123456789/89471

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/89471
https://doi.org/10.1093/brain/awad050

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: Dadu, A, Satone, V, Kaur, R, Hashemi, SH, Leonard, H, Iwaki, H, Makarious, MB, Billingsley, KJ, Bandres-Ciga, S, Sargent, LJ, Noyce, AJ, Daneshmand, A, Blauwendraat, C, Marek, K, Scholz, SW, Singleton, AB, Nalls, MA, Campbell, RH, Faghri, F

وصف الملف: 172 - ?

Relation: NPJ Parkinsons Dis; https://qmro.qmul.ac.uk/xmlui/handle/123456789/84118

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84118
https://doi.org/10.1038/s41531-022-00439-z

المؤلفون: Krohn, L, Heilbron, K, Blauwendraat, C, Reynolds, RH, Yu, E, Senkevich, K, Rudakou, U, Estiar, MA, Gustavsson, EK, Brolin, K, Ruskey, JA, Freeman, K, Asayesh, F, Chia, R, Arnulf, I, Hu, MTM, Montplaisir, JY, Gagnon, J-F, Desautels, A, Dauvilliers, Y, Gigli, GL, Valente, M, Janes, F, Bernardini, A, Hogl, B, Stefani, A, Ibrahim, A, Sonka, K, Kemlink, D, Oertel, W, Janzen, A, Plazzi, G, Biscarini, F, Antelmi, E, Figorilli, M, Puligheddu, M, Mollenhauer, B, Trenkwalder, C, Sixel-Doring, F, De Cock, VC, Monaca, CC, Heidbreder, A, Ferini-Strambi, L, Dijkstra, F, Viaene, M, Abril, B, Boeve, BF, Scholz, SW, Ryte, M, Bandres-Ciga, S, Noyce, A, Cannon, P, Pihlstrom, L, Nalls, MA, Singleton, AB, Rouleau, GA, Postuma, RB, Gan-Or, Z

Relation: NATURE COMMUNICATIONS; 7496; ARTN 7496; https://qmro.qmul.ac.uk/xmlui/handle/123456789/83085

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/83085
https://doi.org/10.1038/s41467-022-34732-5

المؤلفون: Botía J, Nalls MA, Noyce AJ, Nicolas A, Cookson MR, Bandres-Ciga S, Gibbs JR, Hernandez DG, Singleton AB, Reed X, Leonard H, Blauwendraat C, Faghri F, Bras J, Guerreiro R, Tucci A, Kia DA, Houlden H, Plun-Favreau H, Mok KY, Wood NW, Lovering R, R’Bibo L, Rizig M, Chelban V, Trabzuni D, Tan M, Morris HR, Middlehurst B, Quinn J, Billingsley K, Holmans P, Kinghorn KJ, Lewis P, Escott-Price V, Williams N, Foltynie T, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Giri A, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Gasser T, Rizzu P, Sharma M, Shulman JM, Robak L, Lubbe S, Mencacci NE, Finkbeiner S, Lungu C, Scholz SW, Gan-Or Z, Rouleau GA, Krohan L, van Hilten JJ, Marinus J, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Mir P, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Vargas-González L, Méndez-del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Diez-Fairen M, Aguilar M, Alvarez I, Boungiorno MT, Carcel M, Pastor P, Tartari JP, Alvarez V, González MM, Blazquez M, Garcia C, Suarez-Sanmartin E, Barrero FJ, Rezola EM, Yarza JAB, Pagola AG, de Munain Arregui AL, Ruiz-Martínez J, Cerdan D, Duarte J, Clarimón J, Dols-Icardo O, Reynolds, Regina

مصطلحات موضوعية: Fields of Research::32 - Biomedical and clinical sciences::3209 - Neurosciences::320905 - Neurology and neuromuscular diseases, Fields of Research::52 - Psychology::5202 - Biological psychology::520203 - Cognitive neuroscience, Fields of Research::32 - Biomedical and clinical sciences::3208 - Medical physiology::320801 - Cell physiology, Fields of Research::52 - Psychology::5201 - Applied and developmental psychology::520106 - Psychology of ageing, Fields of Research::31 - Biological sciences::3105 - Genetics::310511 - Neurogenetics, Fields of Research::32 - Biomedical and clinical sciences::3202 - Clinical sciences::320213 - Medical genetics (excl. cancer genetics)

وصف الملف: application/pdf

Relation: Reynolds RH, Botía J, Nalls MA, Noyce AJ, Nicolas A, Cookson MR, Bandres-Ciga S, Gibbs JR, Hernandez DG, Singleton AB, Reed X, Leonard H, Blauwendraat C, Faghri F, Bras J, Guerreiro R, Tucci A, Kia DA, Houlden H, Plun-Favreau H, Mok KY, Wood NW, Lovering R, R’Bibo L, Rizig M, Chelban V, Trabzuni D, Tan M, Morris HR, Middlehurst B, Quinn J, Billingsley K, Holmans P, Kinghorn KJ, Lewis P, Escott-Price V, Williams N, Foltynie T, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Giri A, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Gasser T, Rizzu P, Sharma M, Shulman JM, Robak L, Lubbe S, Mencacci NE, Finkbeiner S, Lungu C, Scholz SW, Gan-Or Z, Rouleau GA, Krohan L, van Hilten JJ, Marinus J, Adarmes-Gómez AD, Bernal-Bernal I, Bonilla-Toribio M, Buiza-Rueda D, Carrillo F, Carrión-Claro M, Mir P, Gómez-Garre P, Jesús S, Labrador-Espinosa MA, Macias D, Vargas-González L, Méndez-del-Barrio C, Periñán-Tocino T, Tejera-Parrado C, Diez-Fairen M, Aguilar M, Alvarez I, Boungiorno MT, Carcel M, Pastor P, Tartari JP, Alvarez V, González MM, Blazquez M, Garcia C, Suarez-Sanmartin E, Barrero FJ, Rezola EM, Yarza JAB, Pagola AG, de Munain Arregui AL, Ruiz-Martínez J, Cerdan D, Duarte J, Clarimón J, Dols-Icardo O (2019). Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability. npj Parkinson's Disease. 5(1).; https://hdl.handle.net/10092/102170; http://doi.org/10.1038/s41531-019-0076-6

الاتاحة: https://hdl.handle.net/10092/102170
https://doi.org/10.1038/s41531-019-0076-6

المؤلفون: Gialluisi, A, Reccia, MG, Modugno, N, Nutile, T, Lombardi, A, Di Giovannantonio, LG, Pietracupa, S, Ruggiero, D, Scala, S, Gambardella, S, Noyce, AJ, Kaiyrzhanov, R, Middlehurst, B, Kia, DA, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Quinn, J, Bubb, V, Mok, KY, Kinghorn, KJ, Billingsley, K, Wood, NW, Lewis, P, Schreglmann, S, Lovering, R, R’Bibo, L, Manzoni, C, Rizig, M, Ryten, M, Guelfi, S, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Morrison, KE, Clarke, C, Brice, A, Danjou, F, Lesage, S, Corvol, J-C, Martinez, M, Schulte, C, Brockmann, K, Simón-Sánchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Cookson, MR, Bandres-Ciga, S, Blauwendraat, C, Craig, DW, Narendra, D, Faghri, F, Gibbs, JR, Hernandez, DG, Van Keuren-Jensen, K, Shulman, JM, Iwaki, H, Leonard, HL, Nalls, MA, Robak, L, Bras, J, Guerreiro, R, Lubbe, S, Finkbeiner, S, Mencacci, NE, Lungu, C, Singleton, AB, Scholz, SW, Reed, X, Alcalay, RN, Gan-Or, Z, Rouleau, GA, Krohn, L, van Hilten, JJ, Marinus, J, Adarmes-Gómez, AD, Aguilar, M, Alvarez, I, Alvarez, V, Barrero, FJ, Yarza, JAB, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio, M, Botía, JA, Boungiorno, MT, Buiza-Rueda, D, Carrillo, F, Carrión-Claro, M, Cerdan, D, Clarimón, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, R, Escamilla-Sevilla, F, Ezquerra, M, Feliz, C, Fernández, M, Fernández-Santiago, R, Garcia, C, García-Ruiz, P, Gómez-Garre, P, Heredia, MJG, Gonzalez-Aramburu, I, Pagola, AG, Hoenicka, J, Infante, J, Jesús, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, MA, Lopez-Sendon, JL, de Munain Arregui, AL, Macias, D, Torres, IM, Marín, J, Marti, MJ, Martínez-Castrillo, JC, Méndez-del-Barrio, C, González, MM, Mata, M, Mínguez, A, Mir, P, Rezola, EM, Muñoz, E, Pagonabarraga, J, Pastor, P, Errazquin, FP, Periñán-Tocino, T, Ruiz-Martínez, J, Ruz, C, Rodriguez, AS, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Tartari, JP, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-González, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Toft, M, Koks, S, Taba, P, Hassin-Baer, S, Majamaa, K, Siitonen, A, Okubadejo, NU, Ojo, OO, Shashkin, C, Zharkynbekova, N, Akhmetzhanov, V, Aitkulova, A, Zholdybayeva, E, Zharmukhanov, Z, Kaishybayeva, G, Karimova, A, Sadykova, D, Iacoviello, L, Gianfrancesco, F, Acampora, D, D’Esposito, M, Simeone, A, Ciullo, M, Esposito, T

المصدر: Molecular Neurodegeneration , 16 (1) , Article 35. (2021)

مصطلحات موضوعية: Late onset Parkinson’s disease, Whole exome sequencing, Novel candidate genes for Parkinson’s disease, Rare variant burden analysis

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10130126/1/s13024-021-00455-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10130126/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10130126/1/s13024-021-00455-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10130126/

المؤلفون: Blauwendraat, C, Iwaki, H, Makarious, MB, Bandres-Ciga, S, Leonard, H, Grenn, FP, Lake, J, Krohn, L, Tan, M, Kim, JJ, Gibbs, JR, Hernandez, DG, Ruskey, JA, Pihlstrøm, L, Toft, M, van Hilten, JJ, Marinus, J, Schulte, C, Brockmann, K, Sharma, M, Siitonen, A, Majamaa, K, Eerola-Rautio, J, Tienari, PJ, Grosset, DG, Lesage, S, Corvol, J-C, Brice, A, Wood, N, Hardy, J, Gan-Or, Z, Heutink, P, Gasser, T, Morris, HR, Noyce, AJ, Nalls, MA, Singleton, AB, International Parkinson's Disease Genomics Consortium (IPDGC), Kaiyrzhanov, R, Middlehurst, B, Kia, DA, Houlden, H, Storm, CS, Plun-Favreau, H, Holmans, P, Trabzuni, D, Quinn, J, Bubb, V, Mok, KY, Kinghorn, KJ, Wood, NW, Lewis, P, Schreglmann, SR, Lovering, R, R'Bibo, L, Manzoni, C, Rizig, M, Ryten, M, Guelfi, S, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Morrison, KE, Clarke, C, Harvey, K, Jacobs, BM, Danjou, F, Martinez, M, Simón-Sánchez, J, Rizzu, P, Schneider, SA, Cookson, MR, Craig, DW, Billingsley, K, Narendra, DP, Faghri, F, Van Keuren-Jensen, K, Shulman, JM, Leonard, HL, Robak, L, Bras, J, Guerreiro, R, Lubbe, S, Troycoco, T, Finkbeiner, S, Mencacci, NE, Lungu, C, Scholz, SW, Reed, X, Uitti, RJ, Ross, OA, Moore, A, Alcalay, RN, Wszolek, ZK, Rouleau, GA, Mufti, K, Adarmes-Gómez, AD, Aguilar, M, Alvarez, I, Alvarez, V, Barrero, FJ, Yarza, JAB, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio, M, Botía, JA, Boungiorno, MT, Buiza-Rueda, D, Cámara, A, Carrillo, F, Carrión-Claro, M, Cerdan, D, Clarimón, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, R, Escamilla-Sevilla, F, Ezquerra, M, Feliz, C, Fernández, M, Fernández-Santiago, R, Garcia, C, García-Ruiz, P, Gómez-Garre, P, Heredia, MJG, Gonzalez-Aramburu, I, Pagola, AG, Hoenicka, J, Infante, J, Jesús, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, MA, Lopez-Sendon, JL, de Munain Arregui, AL, Macias, D, Torres, IM, Marín, J, Marti, MJ, Martínez-Castrillo, JC, Méndez-Del-Barrio, C, González, MM, Mata, M, Mínguez, A, Mir, P, Rezola, EM, Muñoz, E, Pagonabarraga, J, Pastor, P, Errazquin, FP, Periñán-Tocino, T, Ruiz-Martínez, J, Ruz, C, Rodriguez, AS, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Tartari, JP, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-González, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Koks, S, Hassin-Baer, S, Tienari, P, Okubadejo, NU, Ojo, OO, Shashkin, C, Zharkinbekova, N, Akhmetzhanov, V, Kaishybayeva, G, Karimova, A, Khaibullin, T, Lynch, TL

المصدر: Annals of Neurology , 90 (1) pp. 35-42. (2021)

مصطلحات موضوعية: GWAS, Parkinson's disease, autosomes, genetics, sex

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10127223/9/Noyce_Annals%20of%20Neurology%20-%202021%20-%20Blauwendraat%20-%20Investigation%20of%20Autosomal%20Genetic%20Sex%20Differences%20in%20Parkinson%20s%20Disease.pdf; https://discovery.ucl.ac.uk/id/eprint/10127223/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10127223/9/Noyce_Annals%20of%20Neurology%20-%202021%20-%20Blauwendraat%20-%20Investigation%20of%20Autosomal%20Genetic%20Sex%20Differences%20in%20Parkinson%20s%20Disease.pdf
https://discovery.ucl.ac.uk/id/eprint/10127223/

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

Relation: https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdf; 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

الاتاحة: https://eprints.whiterose.ac.uk/180985/
https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdf

المؤلفون: van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernandez I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleo A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illan-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodriguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodriguez Rodriguez E, Mead S, Synofzik M, van Swieten JC, Leber I, Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JBJ, Dobson-Stone C, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Albani D, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Blesa R, Landqvist Waldo M, Nilsson K, Nilsson C, Mackenzie IRA, Hsiung G-YR, Mann DMA, Grafman J, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JCM, Uphill J, Collinge J, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Van Broeckhoven C, Cappa SF, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Baker M, Josephs KA, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, Dopper EGP, Seelaar H, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang H-H, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebouvier T, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tarraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sorensen TIA, Heutink P, Sanchez-Juan P, Posthuma D, Coppola G, Varpetian A, Foroud TM, Levey AI, Kukull WA, Mendez MF, Ringman J, Chui H, Cotman C, DeCarli C, Geschwind DH, Clarimon J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H

المصدر: Acta Neuropathologica, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/263592; https://eprints.ncl.ac.uk/fulltext.aspx?url=263592/C546282C-A757-4226-AB2D-47E1365AFEFF.pdf&pub_id=263592

الاتاحة: https://eprints.ncl.ac.uk/263592

المؤلفون: Kun-Rodrigues, C, Orme, T, Carmona, S, Hernandez, DG, Ross, OA, Eicher, JD, Shepherd, C, Parkkinen, L, Darwent, L, MG, Heckman., Scholz, SW, JC, Troncoso., O, Pletnikova., Dawson, T, Rosenthal, L, Ansorge, O, Clarimon, J, Lleo, A, Morenas-Rodriguez, E, Clark, L, Honig, LS, Marder, K, Lemstra, A, Rogaeva, E, St George-Hyslop, P, Londos, E, Zetterberg, H, Barber, I, Braae, A, Brown, K, Morgan, K, Troakes, C, Al-Sarraj, S, Lashley, T, Holton, J, Compta, Y, Van Deerlin, V, Serrano, GE, Beach, TG, Lesage, S, Galasko, D, Masliah, E, Santana, I, Pastor, P, Diez-Fairen, M, Aguilar, M, Tienari, PJ, Myllykangas, L, Oinas, M, Revesz, T

Relation: https://ora.ox.ac.uk/objects/uuid:90c523a4-4918-461c-8a0c-3a2c3fdf91a0; https://doi.org/10.1016/j.neurobiolaging.2018.10.019

الاتاحة: https://doi.org/10.1016/j.neurobiolaging.2018.10.019
https://ora.ox.ac.uk/objects/uuid:90c523a4-4918-461c-8a0c-3a2c3fdf91a0