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41دورية أكاديمية
المؤلفون: Bettencourt, C., Pires, L., Almeida, F., Vilar, M., Cruz, H., Leitão, J.A., Gomes, A. Allen
المصدر: Sleep Medicine ; volume 100, page S33 ; ISSN 1389-9457
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.sleep.2022.05.102Test
https://api.elsevier.com/content/article/PII:S1389945722002866?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1389945722002866?httpAccept=text/plainTest -
42دورية أكاديمية
المؤلفون: Almeida, F., Pires, L., Bettencourt, C., Marques, I., Gomes, A.A.
المصدر: Sleep Medicine ; volume 100, page S303 ; ISSN 1389-9457
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.sleep.2022.05.819Test
https://api.elsevier.com/content/article/PII:S1389945722010036?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1389945722010036?httpAccept=text/plainTest -
43دورية أكاديمية
المؤلفون: Heidari, M., Johnstone, D. M., Olynyk, J. K., Trinder, D., Milward, E. A., Bassett, B., Graham, R. M., Chua, A. C. G., House, M. J., Collingwood, J. F., Bettencourt, C., Houlden, H., Ryten, M.
المساهمون: The University of Newcastle. Faculty of Health & Medicine, School of Biomedical Sciences and Pharmacy
مصطلحات موضوعية: neurodegeneration with brain iron accumulation (NIBA), cognitive impairment, hemochromatosis, myelin abnormalities
العلاقة: Molecular Psychiatry Vol. 21, Issue 11, p. 1599-1607; http://hdl.handle.net/1959.13/1347150Test; uon:29981
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44دورية أكاديمية
المؤلفون: Gang, Q, Bettencourt, C, Machado, PM, Brady, S, Holton, JL, Pittman, AM, Hughes, D, Healy, E, Parton, M, Hilton-Jones, D, Shieh, PB, Needham, M, Liang, C, Zanoteli, E, de Camargo, LV, De Paepe, B, De Bleecker, J, Shaibani, A, Ripolone, M, Violano, R, Moggio, M, Barohn, RJ, Dimachkie, MM, Mora, M, Mantegazza, R, Zanotti, S, Singleton, AB, Hanna, MG, Houlden, H, Muscle Study Group and The International IBM Genetics Consortium, .
المصدر: Neurobiology of Aging , 47 218.e1-218.e9. (2016)
مصطلحات موضوعية: Genetic risk factor, SQSTM1, Sporadic inclusion body myositis, VCP, sIBM
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1514790/1/1-s2.0-S0197458016301610-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1514790Test/
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45دورية أكاديمية
المؤلفون: Heidari, M, Gerami, SH, Bassett, B, Graham, RM, Chua, ACG, Aryal, R, House, MJ, Collingwood, JF, Bettencourt, C, Houlden, H, Ryten, M, UK Brain Expression Consortium (UKBEC), Olynyk, JK, Trinder, D, Johnstone, DM, Milward, EA
المصدر: Rare Diseases , 4 (1) , Article e1198458. (2016)
مصطلحات موضوعية: NBIA, array, brain, hemochromatosis, iron, myelin, neurodegeneration, oligodendrocyte
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1507532/1/Bettencourt_and%20common%20brain%20diseases.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1507532Test/
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46دورية أكاديمية
المؤلفون: Raposo, M, Bettencourt, C, Ramos, A, Kazachkova, N, Vasconcelos, J, Kay, T, Bruges-Armas, J, Lima, M
المصدر: NeuroMolecular Medicine , 19 (1) pp. 41-45. (2016)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Neurosciences, Neurosciences & Neurology, MJD, Polyglutamine disease, mRNA levels, Cytokines, MACHADO-JOSEPH-DISEASE, INTERLEUKIN-1-BETA GENE, CELL-LINES, POLYMORPHISM, ONSET, TRANSCRIPTION, PROTEIN, REGION, AGE
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1506145/1/Bettencourt_promoter%20variation%20and%20expression_genes%20IL1A_ataxia_patients.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1506145Test/
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47دورية أكاديمية
المؤلفون: Kara, E, Tucci, A, Manzoni, C, Lynch, DS, Elpidorou, M, Bettencourt, C, Chelban, V, Manole, A, Hamed, SA, Haridy, NA, Federoff, M, Preza, E, Hughes, D, Pittman, A, Jaunmuktane, Z, Brandner, S, Xiromerisiou, G, Wiethoff, S, Schottlaender, L, Proukakis, C, Morris, H, Warner, T, Bhatia, KP, Korlipara, LV, Singleton, AB, Hardy, J, Wood, NW, Lewis, PA, Houlden, H
المصدر: Brain , 139 (7) pp. 1904-1918. (2016)
مصطلحات موضوعية: Parkinson's disease, SPG11, gene, hereditary spastic paraplegia, mutation
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1496178/1/Kara%20et%20al%20Genetic%20and%20phenotypic%20characterization%20of%20complex%20hereditary%20spastic%20paraplegia%20VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1496178Test/
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48دورية أكاديمية
المؤلفون: Wiethoff, S, Hersheson, J, Bettencourt, C, Wood, NW, Houlden, H
المصدر: Journal of Neurology , 263 (8) pp. 1503-1510. (2016)
مصطلحات موضوعية: Clinical severity, Gene, Genotype–phenotype, Mutation, SYNE1, Spinocerebellar ataxia
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1494333/1/art_10.1007_s00415-016-8148-6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1494333Test/
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49دورية أكاديمية
المؤلفون: Schottlaender, LV, Bettencourt, C, Kiely, AP, Chalasani, A, Neergheen, V, Holton, JL, Hargreaves, I, Houlden, H
المصدر: PLoS One , 11 (2) , Article e0149557. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1482859/1/Coenzyme%20Q10%20Levels%20Are%20Decreased%20in%20the%20Cerebellum%20of%20Multiple-System%20Atrophy%20Patients.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1482859Test/
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50دورية أكاديمية
المؤلفون: Bettencourt, C, Hensman-Moss, D, Flower, M, Wiethoff, S, Brice, A, Goizet, C, Stevanin, G, Koutsis, G, Karadima, G, Panas, M, Yescas-Gómez, P, García-Velázquez, LE, Alonso-Vilatela, ME, Lima, M, Raposo, M, Traynor, B, Sweeney, M, Wood, N, Giunti, P, SPATAX Network, Durr, A, Holmans, P, Houlden, H, Tabrizi, SJ, Jones, L
المصدر: Annals of Neurology , 79 (6) pp. 983-990. (2016)
مصطلحات موضوعية: Huntingtons-disease, Repeat Instability, Spinocerebellar Ataxia, Mismatch Repair, Earlier Age, Cag Repeat, Expansion, Damage, Mutations, Genome
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1481544/1/Bettencourt_DNA%20repair%20pathways%20underlie%20a%20common%20genetic%20mechanism%20modulating%20onset%20in%20polyglutamine%20diseases.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1481544Test/