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1دورية أكاديمية
المؤلفون: van der Lee, SJ, Conway, OJ, Jansen, I, Carrasquillo, MM, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, KR, Stringa, N, Chen, JA, Zettergren, A, Andlauer, TFM, Diez-Fairen, M, Simon-Sanchez, J, Lleó, 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, Illán-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-Rodríguez, E, Ironside, JW, van Berckel, BNM, Alcolea, D, Wiendl, H, Strickland, SL, Pastor, P, Rodríguez Rodríguez, E, DESGESCO (Dementia Genetics Spanish Consortium), ., EADB (Alzheimer Disease European DNA biobank), ., IFGC (International FTD-Genomics Consortium), ., IPDGC (The International Parkinson Disease Genomics Consortium), ., RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementi, ., Netherlands Brain Bank (NBB), ., Boeve, BF, Petersen, RC, Ferman, TJ, van Gerpen, JA, Reinders, MJT, Uitti, RJ, Tárraga, 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, Sørensen, TIA, Heutink, P, Sánchez-Juan, P, Posthuma, D, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzhe, ., Clarimón, J, Christensen, K, Ertekin-Taner, N, Scholz, SW, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, WM, Holstege, H
المصدر: Acta Neuropathologica (2020) (In press).
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10090555/1/Zetterberg_Correction%20to.%20A%20nonsynonymous%20mutation%20in%20PLCG2%20reduces%20the%20risk%20of%20Alzheimer%27s%20disease_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10090555Test/
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2دورية أكاديمية
المؤلفون: Wei, W, Tuna, S, Keogh, MJ, Smith, KR, Aitman, TJ, Beales, PL, Bennett, DL, Gale, DP, Bitner-Glindzicz, MAK, Black, GC, Brennan, P, Elliott, P, Flinter, FA, Floto, RA, Houlden, H, Irving, M, Koziell, A, Maher, ER, Markus, HS, Morrell, NW, Newman, WG, Roberts, I, Sayer, JA, Smith, KGC, Taylor, JC, Watkins, H, Webster, AR, Wilkie, AOM, Williamson, C, Diseases, NIHR BioResource–Rare, Pilot, 100,000 Genomes Project–Rare Diseases, Ashford, S, Penkett, CJ, Stirrups, KE, Rendon, A, Ouwehand, WH, Bradley, JR, Raymond, FL, Caulfield, M, Turro, E, Chinnery, PF
العلاقة: https://ora.ox.ac.uk/objects/uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1bTest; https://doi.org/10.1126/science.aau6520Test
الإتاحة: https://doi.org/10.1126/science.aau6520Test
https://ora.ox.ac.uk/objects/uuid:8c4c93aa-8c16-456b-8346-d05af30b4b1bTest -
3دورية أكاديمية
المؤلفون: van der Lee, SJ, Conway, OJ, Jansen, I, Carrasquillo, MM, Kleineidam, L, van den Akker, E, Hernández, I, van Eijk, KR, Stringa, N, Chen, JA, Zettergren, A, Andlauer, TFM, Diez-Fairen, M, Simon-Sanchez, J, Lleó, 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, Illán-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-Rodríguez, E, Ironside, JW, van Berckel, BNM, Alcolea, D, Wiendl, H, Strickland, SL, Pastor, P, Rodríguez Rodríguez, E, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer, ., EADB (Alzheimer Disease European DNA biobank), ., IFGC (International FTD-Genomics Consortium), IPDGC (The Interna, ., IPDGC (The International Parkinson Disease Genomics Consortium), ., RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementi, ., Netherlands Brain Bank (NBB), ., Boeve, BF, Petersen, RC, Ferman, TJ, van Gerpen, JA, Reinders, MJT, Uitti, RJ, Tárraga, 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, Sørensen, TIA, Heutink, P, Sánchez-Juan, P, Posthuma, D, GIFT (Genetic Investigation in Frontotemporal Dementia and Alzhe, ., Clarimón, J, Christensen, K, Ertekin-Taner, N, Scholz, SW, Ramirez, A, Ruiz, A, Slagboom, E, van der Flier, WM, Holstege, H
المصدر: Acta Neuropathologica , 138 (2) pp. 237-250. (2019)
مصطلحات موضوعية: Alzheimer’s disease, Amyotrophic lateral sclerosis, Dementia with Lewy bodies, Frontotemporal dementia, Longevity, Multiple sclerosis, Neurodegenerative disease, PLCG2, Parkinson’s disease, Phospholipase C Gamma 2, Progressive supranuclear palsy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10079201/1/Zetterberg_AAM_van%20der%20Lee%20et%20al.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10079201Test/
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4دورية أكاديمية
المؤلفون: Wei, W, Keogh, MJ, Aryaman, J, Golder, Z, Kullar, PJ, Wilson, I, Talbot, K, Turner, MR, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Sarraj, SA, Morris, CM, Ansorge, O, Jones, NS, Ironside, JW, Chinnery, PF
العلاقة: https://ora.ox.ac.uk/objects/uuid:851b22b5-6dc2-4a02-9ce5-5a6ed1224a29Test; https://doi.org/10.1038/s41436-018-0274-3Test
الإتاحة: https://doi.org/10.1038/s41436-018-0274-3Test
https://ora.ox.ac.uk/objects/uuid:851b22b5-6dc2-4a02-9ce5-5a6ed1224a29Test -
5دورية أكاديمية
المؤلفون: Keogh, MJ, Wei, W, Wilson, I, Coxhead, J, Ryan, S, Rollinson, S, Griffin, H, Kurzawa-Akanbi, M, Santibanez-Koref, M, Talbot, K, Turner, MR, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Al Sarraj, S, Morris, CM, Ansorge, O, Pickering-Brown, S, Ironside, JW, Chinnery, PF
مصطلحات موضوعية: neurodegeneration, exome, genomics
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.17863/CAM.8404Test
https://www.repository.cam.ac.uk/handle/1810/263102Test -
6دورية أكاديمية
المؤلفون: Ritchie, DL, Adlard, P, Peden, AH, Lowrie, S, Le Grice, M, Burns, K, Jackson, RJ, Yull, H, Keogh, MJ, Wei, W, Chinnery, PF, Head, MW, Ironside, JW
المصدر: Acta Neuropathologica , 134 (2) pp. 221-240. (2017)
مصطلحات موضوعية: Amyloid β, Cerebral amyloid angiopathy, Human growth hormone, Iatrogenic Creutzfeldt–Jakob disease, Neuropathology, Prion protein
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1550890/1/Adlard_Amyloid-%CE%B2%20accumulation%20in%20the%20CNS%20in%20human%20growth%20hormone%20recipients%20in%20the%20UK_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1550890Test/
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7دورية أكاديمية
المؤلفون: Keogh, MJ, Kurzawa-Akanbi, M, Griffin, H, Douroudis, K, Ayers, KL, Hussein, RI, Hudson, G, Pyle, A, Cordell, HJ, Attems, J, McKeith, IG, O'Brien, JT, Burn, DJ, Morris, CM, Thomas, AJ, Chinnery, PF
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Lindsay, SJ, Xu, Y, Lisgo, SN, Harkin, LF, Copp, AJ, Gerrelli, D, Clowry, GJ, Talbot, A, Keogh, MJ, Coxhead, J, Santibanez-Koref, M, Chinnery, PF
المصدر: Frontiers in Neuroanatomy , 10 , Article 86. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Anatomy & Morphology, Neurosciences, Neurosciences & Neurology, human, embryo, fetal, RNAseq, SNP genotyping, HDBR, TRANSCRIPTOMES
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1529097/1/copp_fnana-10-00086.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1529097Test/
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9دورية أكاديمية
المؤلفون: Keogh, MJ, Steele, H, Douroudis, K, Pyle, A, Duff, J, Hussain, R, Smertenko, T, Griffin, H, Santibanez-Koref, M, Horvath, R, Chinnery, PF
مصطلحات موضوعية: Adult, Aged, Cohort Studies, England, Exome, Female, Genes, Recessive, Humans, Male, Middle Aged, Mutation, Mutation Rate, Sequence Analysis, DNA, Spinocerebellar Degenerations
وصف الملف: Print-Electronic; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.37578Test
https://www.repository.cam.ac.uk/handle/1810/290348Test -
10دورية أكاديمية
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
