المؤلفون: Zech, M, Kumar, KR, Reining, S, Reunert, J, Tchan, M, Riley, LG, Drew, AP, Adam, RJ, Berutti, R, Biskup, S, Derive, N, Bakhtiari, S, Jin, SC, Kruer, MC, Bardakjian, T, Gonzalez-Alegre, P, Keller Sarmiento, IJ, Mencacci, NE, Lubbe, SJ, Kurian, MA, Clot, F, Méneret, A, de Sainte Agathe, J-M, Fung, VSC, Vidailhet, M, Baumann, M, Marquardt, T, Winkelmann, J, Boesch, S

المصدر: Movement Disorders (2021) (In press).

مصطلحات موضوعية: AOPEP, genomic analysis, loss-of-function variants, monogenic dystonia, rare disease

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135960Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135960/1/Kurian_mds.28804.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135960Test/

المؤلفون: Meng, L, Isohanni, P, Shao, Y, Graham, BH, Hickey, SE, Brooks, S, Suomalainen, A, Joset, P, Steindl, K, Rauch, A, Hackenberg, A, High, FA, Armstrong-Javors, A, Mencacci, NE, Gonzalez-Latapi, P, Kamel, WA, Al-Hashel, JY, Bustos, B, Hernandez, A, Krainc, D, Lubbe, SJ, Van Esch, H, De Luca, C, Ballon, K, Ravelli, C, Burglen, L, Qebibo, L, Calame, DG, Mitani, T, Marafi, D, Pehlivan, D, Saadi, NW, Sahin, Y, Maroofian, R, Efthymiou, S, Houlden, H, Maqbool, S, Rahman, F, Gu, S, Posey, JE, Lupski, JR, Hunter, J, Wangler, MF, Carroll, CJ, Yang, Y

المصدر: Annals of Neurology , 89 (4) pp. 828-833. (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10124204Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10124204/3/Efthymiou_MED27_12302020_Annals%20of%20Neurology_clean.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10124204Test/

المؤلفون: Lubbe, SJ, Bustos, B, Hu, J, Krainc, D, Joseph, T, Hehir, J, Tan, M, Zhang, W, Escott-Price, V, Williams, NM, Blauwendraat, C, Singleton, AB, Morris, HR, for International Parkinson’s Disease Genomics Consortium (IPDGC

المصدر: Human Molecular Genetics (2021) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10119916/1/ddaa273.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10119916Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10119916/1/ddaa273.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10119916Test/

المؤلفون: Steel, D, Zech, M, Zhao, C, Barwick, KE, Burke, D, Demailly, D, Kumar, KR, Zorzi, G, Nardocci, N, Kaiyrzhanov, R, Wagner, M, Iuso, A, Berutti, R, Škorvánek, M, Necpál, J, Davis, R, Wiethoff, S, Mankad, K, Sudhakar, S, Ferrini, A, Sharma, S, Kamsteeg, E-J, Tijssen, MA, Verschuuren, C, van Egmond, ME, Flowers, JM, McEntagart, M, Tucci, A, Genomics England Research Consortium, ., Coubes, P, Bustos, BI, Gonzalez-Latapi, P, Tisch, S, Darveniza, P, Gorman, KM, Peall, KJ, Bötzel, K, Koch, JC, Kmieć, T, Plecko, B, Boesch, S, Haslinger, B, Jech, R, Garavaglia, B, Wood, N, Houlden, H, Gissen, P, Lubbe, SJ, Sue, CM, Cif, L, Mencacci, NE, Anderson, G, Kurian, MA, Winkelmann, J

المصدر: Annals of Neurology , 88 (5) pp. 867-877. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10108409/1/Barwick_ana.25879.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10108409Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10108409/1/Barwick_ana.25879.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10108409Test/

المؤلفون: Jansen, IE, Ye, H, Heetveld, S, Lechler, MC, Michels, H, Seinstra, RI, Lubbe, SJ, Drouet, V, Lesage, S, Majounie, E, Gibbs, JR, Nalls, MA, Ryten, M, Botia, JA, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, AK, Li, Y, Yogi, P, Amin, N, Van Duijn, CM, Morris, HR, Brice, A, Singleton, AB, David, DC, Nollen, EA, Jain, S, Shulman, JM, Heutink, P

العلاقة: https://ora.ox.ac.uk/objects/uuid:111198f2-f1e4-4d28-8c87-a458b67b923dTest; https://doi.org/10.1186/s13059-017-1147-9Test

الإتاحة: https://doi.org/10.1186/s13059-017-1147-9Test
https://ora.ox.ac.uk/objects/uuid:111198f2-f1e4-4d28-8c87-a458b67b923dTest

المؤلفون: Lamb, R, Rohrer, JD, Real, R, Lubbe, SJ, Waite, AJ, Blake, DJ, Walters, RJ, Lashley, T, Revesz, T, Holton, JL, Morris, HR

المصدر: Cold Spring Harbor Molecular Case Studies , 5 (3) , Article a003913. (2019)

مصطلحات موضوعية: progressive extrapyramidal movement disorder, Ontology Terms

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10075806/8/Holton_A%20novel%20TBK1%20mutation%20in%20a%20family%20with%20diverse%20frontotemporal%20dementia%20spectrum%20disorders_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10075806Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10075806/8/Holton_A%20novel%20TBK1%20mutation%20in%20a%20family%20with%20diverse%20frontotemporal%20dementia%20spectrum%20disorders_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10075806Test/

المؤلفون: Mencacci, NE, Isaias, IU, Reich, MM, Ganos, C, Plagnol, V, Polke, JM, Bras, J, Hersheson, J, Stamelou, M, Pittman, AM, Noyce, AJ, Mok, KY, Opladen, T, Kunstmann, E, Hodecker, S, Münchau, A, Volkmann, J, Samnick, S, Sidle, K, Nanji, T, Sweeney, MG, Houlden, H, Batla, A, Zecchinelli, AL, Pezzoli, G, Marotta, G, Lees, A, Alegria, P, Krack, P, Cormier-Dequaire, F, Lesage, S, Brice, A, Heutink, P, Gasser, T, Lubbe, SJ, Morris, HR, Taba, P, Koks, S, Majounie, E, Raphael Gibbs, J, Singleton, A, Hardy, J, Klebe, S, Bhatia, KP, Wood, NW, International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium

مصطلحات موضوعية: DOPA-responsive-dystonia, GCH1, Parkinson’s disease, dopamine, exome sequencing, Adolescent, Adult, Aged, 80 and over, Child, Databases, Genetic, Europe, Female, GTP Cyclohydrolase, Genetic Variation, Heterozygote, Humans, Male, Middle Aged, Mutation, Parkinson Disease, Pedigree, Risk, United States, Young Adult

وصف الملف: 2480 - 2492

العلاقة: Brain; http://qmro.qmul.ac.uk/xmlui/handle/123456789/37203Test

الإتاحة: https://doi.org/10.1093/brain/awu179Test
http://qmro.qmul.ac.uk/xmlui/handle/123456789/37203Test

المؤلفون: Jansen, IE, Ye, H, Heetveld, S, Lechler, MC, Michels, H, Seinstra, RI, Lubbe, SJ, Drouet, V, Lesage, S, Majounie, E, Gibbs, JR, Nalls, MA, Ryten, M, Botia, JA, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, AK, Li, Y, Yogi, P, Amin, N, van Duijn, CM, International Parkinson’s Disease Genetics Consortium (IPGDC), Morris, HR, Brice, A, Singleton, AB, David, DC, Nollen, EA, Jain, S, Shulman, JM, Heutink, P

مصطلحات موضوعية: Animal model, Functional screening, Genomics, Loss-of-function, Mitochondria, Parkin, Parkinson’s disease, Rare variants, Whole-exome sequencing, α-synuclein, Adolescent, Adult, Animals, Genetically Modified, Caenorhabditis elegans, Case-Control Studies, Cells, Cultured, Child, Disease Models, Animal, Drosophila melanogaster, Exome, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Parkinson Disease, RNA Interference, Sequence Analysis

وصف الملف: 22 - ?

العلاقة: Genome Biol; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-017-1147-9Test; http://qmro.qmul.ac.uk/xmlui/handle/123456789/34323Test

الإتاحة: https://doi.org/10.1186/s13059-017-1147-9Test
http://qmro.qmul.ac.uk/xmlui/handle/123456789/34323Test

المؤلفون: Jansen, IE, Ye, H, Heetveld, S, Lechler, MC, Michels, H, Seinstra, RI, Lubbe, SJ, Drouet, V, Lesage, S, Majounie, E, Gibbs, JR, Nalls, MA, Ryten, M, Botia, JA, Vandrovcova, J, Simon-Sanchez, J, Castillo-Lizardo, M, Rizzu, P, Blauwendraat, C, Chouhan, AK, Li, YR, Yogi, P, Amin, Najaf, Duijn, Cornelia, Morris, HR, Brice, A, Singleton, AB, David, DC, Nollen, EA, Jain, S, Shulman, JM, Heutink, P, Ipgdc

المصدر: Jansen , IE , Ye , H , Heetveld , S , Lechler , MC , Michels , H , Seinstra , RI , Lubbe , SJ , Drouet , V , Lesage , S , Majounie , E , Gibbs , JR , Nalls , MA , Ryten , M , Botia , JA , Vandrovcova , J , Simon-Sanchez , J , Castillo-Lizardo , M , Rizzu , P , Blauwendraat , C , Chouhan , AK , Li , YR , Yogi , P , Amin , N , Duijn , C , Morris , HR ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13059-017-1147-9Test
https://pure.eur.nl/en/publications/63c9bb9a-9584-428c-9489-1bbc459ac75dTest
https://pure.eur.nl/ws/files/47795374/art-3A10.1186-2Fs13059-017-1147-9.pdfTest
http://hdl.handle.net/1765/95820Test

المؤلفون: Norman, BP, Lubbe, SJ, Tan, M, Warren, N, Morris, HR

المصدر: BMC Neurology , 17 (1) , Article 153. (2017)

مصطلحات موضوعية: Early Onset Parkinson’s Disease, PINK1 p.A217D

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1570494/1/s12883-017-0933-z.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1570494Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1570494/1/s12883-017-0933-z.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1570494Test/