المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM

المصدر: American journal of human genetics. 104(3):530-541

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140454820

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: Storm, C.S., Kia, D.A., Almramhi, M.M., Bandrés-Ciga, S., Finan, C., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K.Y., Kinghorn, K.J., Lewis, P., Schreglmann, S.R., Lovering, R., R’Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Harvey, K., Jacobs, B.M., 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., Schneider, S.A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Billingsley, K., Makarious, M.B., Narendra, D.P., Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A.B., Scholz, S.W., Reed, X., Uitti, R.J., Ross, O.A., Grenn, F.P., Moore, A., Alcalay, R.N., Wszolek, Z.K., Gan-Or, Z., Rouleau, G.A., Krohn, L., Mufti, K., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D., Aguilar, M., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botía, J.A., Boungiorno, M.T., 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, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Kõks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N.U., Ojo, O.O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T.L., Hingorani, A.D., Wood, N.W.

وصف الملف: pdf

Relation: ispartof: Nature Communications issue 1 vol 12; WOS:000732975500001; https://doi.org/10.1038/s41467-021-26280-1; 991005543266107891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Finding-genetically-supported-drug-targets-for-Parkinsons/991005543266107891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135991770007891/13136826650007891; alma:61MUN_INST/bibs/991005543266107891

الاتاحة: https://doi.org/10.1038/s41467-021-26280-1
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Finding-genetically-supported-drug-targets-for-Parkinsons/991005543266107891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135991770007891/13136826650007891

المؤلفون: Reynolds, R. H. (Regina H.), Botia, J. (Juan), Nalls, M. A. (Mike A.), Hardy, J. (John), Taliun, S. A. (Sarah A. Gagliano), Ryten, M. (Mina), Noyce, A. J. (Alastair J.), Nicolas, A. (Aude), Cookson, M. R. (Mark R.), Bandres-Ciga, S. (Sara), Gibbs, J. R. (J. Raphael), Hernandez, D. G. (Dena G.), Singleton, A. B. (Andrew B.), Reed, X. (Xylena), Leonard, H. (Hampton), Blauwendraat, C. (Cornelis), Faghri, F. (Faraz), Bras, J. (Jose), Guerreiro, R. (Rita), Tucci, A. (Arianna), Kia, D. A. (Demis A.), Houlden, H. (Henry), Plun-Favreau, H. (Helene), Mok, K. Y. (Kin Y.), Wood, N. W. (Nicholas W.), Lovering, R. (Ruth), R'Bibo, L. (Lea), Rizig, M. (Mie), Chelban, V. (Viorica), Trabzuni, D. (Daniah), Tan, M. (Manuela), Morris, H. R. (Huw R.), Middlehurst, B. (Ben), Quinn, J. (John), Billingsley, K. (Kimberley), Holmans, P. (Peter), Kinghorn, K. J. (Kerri J.), Lewis, P. (Patrick), Escott-Price, V. (Valentina), Williams, N. (Nigel), Foltynie, T. (Thomas), Brice, A. (Alexis), Danjou, F. (Fabrice), Lesage, S. (Suzanne), Corvol, J.-C. (Jean-Christophe), Martinez, M. (Maria), Giri, A. (Anamika), Schulte, C. (Claudia), Brockmann, K. (Kathrin), Simon-Sanchez, J. (Javier), Heutink, P. (Peter), Gasser, T. (Thomas), Rizzu, P. (Patrizia), Sharma, M. (Manu), Shulman, J. M. (Joshua M.), Robak, L. (Laurie), Lubbe, S. (Steven), Mencacci, N. E. (Niccolo E.), Finkbeiner, S. (Steven), Lungu, C. (Codrin), Scholz, S. W. (Sonja W.), Gan-Or, Z. (Ziv), Rouleau, G. A. (Guy A.), Krohan, L. (Lynne), van Hilten, J. J. (Jacobus J.), Marinus, J. (Johan), Adarmes-Gomez, A. D. (Astrid D.), Bernal-Bernal, I. (Inmaculada), Bonilla-Toribio, M. (Marta), Buiza-Rueda, D. (Dolores), Carrillo, F. (Fatima), Carrion-Claro, M. (Mario), Mir, P. (Pablo), Gomez-Garre, P. (Pilar), Jesus, S. (Silvia), Labrador-Espinosa, M. A. (Miguel A.), Macias, D. (Daniel), Vargas-Gonzalez, L. (Laura), Mendez-del-Barrio, C. (Carlota), Perinan-Tocino, T. (Teresa), Tejera-Parrado, C. (Cristina), Diez-Fairen, M. (Monica), Aguilar, M. (Miquel), Alvarez, I. (Ignacio), Teresa Boungiorno, M. (Mara), Carcel, M. (Maria), Pastor, P. (Pau), Pablo Tartari, J. (Juan), Alvarez, V. (Victoria), Menendez Gonzalez, M. (Manuel), Blazquez, M. (Marta), Garcia, C. (Ciara), Suarez-Sanmartin, E. (Esther), Javier Barrero, F. (Francisco), Mondragon Rezola, E. (Elisabet), Bergareche Yarza, J. A. (Jesus Alberto), Gorostidi Pagola, A. (Ana), de Munain Arregui, A. L. (Adolfo Lopez), Ruiz-Martinez, J. (Javier), Cerdan, D. (Debora), Duarte, J. (Jacinto), Clarimon, J. (Jordi), Dols-Icardo, O. (Oriol), Infante, J. (Jon), Marin, J. (Juan), Kulisevsky, J. (Jaime), Pagonabarraga, J. (Javier), Gonzalez-Aramburu, I. (Isabel), Sanchez Rodriguez, A. (Antonio), Sierra, M. (Mara), Duran, R. (Raquel), Ruz, C. (Clara), Vives, F. (Francisco), Escamilla-Sevilla, F. (Francisco), Minguez, A. (Adolfo), Camara, A. (Ana), Compta, Y. (Yaroslau), Ezquerra, M. (Mario), Jose Marti, M. (Maria), Fernandez, M. (Manel), Munoz, E. (Esteban), Fernandez-Santiago, R. (Ruben), Tolosa, E. (Eduard), Valldeoriola, F. (Francesc), Garcia-Ruiz, P. (Pedro), Gomez Heredia, M. J. (Maria Jose), Perez Errazquin, F. (Francisco), Hoenicka, J. (Janet), Jimenez-Escrig, A. (Adriano), Carlos Martinez-Castrillo, J. (Juan), Luis Lopez-Sendon, J. (Jose), Martinez Torres, I. (Irene), Tabernero, C. (Cesar), Vela, L. (Lydia), Zimprich, A. (Alexander), Pihlstrom, L. (Lasse), Koks, S. (Sulev), Taba, P. (Pille), Majamaa, K. (Kari), Siitonen, A. (Ari), Okubadejo, N. U. (Njideka U.), Ojo, O. O. (Oluwadamilola O.), Pitcher, T. (Toni), Anderson, T. (Tim), Bentley, S. (Steven), Fowdar, J. (Javed), Mellick, G. (George), Dalrymple-Alford, J. (John), Henders, A. K. (Anjali K.), Kassam, I. (Irfahan), Montgomery, G. (Grant), Sidorenko, J. (Julia), Zhang, F. (Futao), Xue, A. (Angli), Vallerga, C. L. (Costanza L.), Wallace, L. (Leanne), Wray, N. R. (Naomi R.), Yang, J. (Jian), Visscher, P. M. (Peter M.), Gratten, J. (Jacob), Silburn, P. A. (Peter A.), Halliday, G. (Glenda), Hickie, I. (Ian), Kwok, J. (John), Lewis, S. (Simon), Kennedy, M. (Martin), Pearson, J. (John)

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe202003117846

المؤلفون: Robak, L, Jansen, I, Van Rooij, J, Uitterlinden, A, Kraaij, R, Jankovic, J, (Ipdgc),, International Parkinson’S Disease Genomics Consortium, Heutink, P, Shulman, J, Hu, M

Relation: https://ora.ox.ac.uk/objects/uuid:63f1d6bb-1308-48ba-a2d2-c5a950731b8d; https://doi.org/10.1093/brain/awx285

الاتاحة: https://doi.org/10.1093/brain/awx285
https://ora.ox.ac.uk/objects/uuid:63f1d6bb-1308-48ba-a2d2-c5a950731b8d

المؤلفون: Billingsley, K. J., Barbosa, Ines, Bandres-Ciga, Sara, Quinn, J. P., Bubb, Vivien, Deshpande, Charulata, Botia, J. A., Reynolds, Regina H, Zhang, D., Simpson, M. A., Blauwendraat, Cornelis, Gan-Or, Z., Gibbs, J. R., Nalls, M. A., Singleton, A., Noyce, A., Tucci, A., Middlehurst, B., Kia, Demis A, Tan, M., Houlden, Henry, Morris, H. R., Plun-Favreau, H., Holmans, Peter, Hardy, J., Trabzuni, D., Bras, Jose, Mok, K., Kinghorn, K., Wood, N., Lewis, P., Guerreiro, Rita, Lovering, R., R'Bibo, L., Rizig, M., Escott-Price, Valentina, Chelban, Viorica, Foltynie, T., Williams, Nigel, Brice, Alexis, Danjou, Fabrice, Lesage, S., Martinez, M., Giri, A., Schulte, C., Brockmann, Kathrin, Simón-Sánchez, J., Heutink, Peter, Rizzu, P., Sharma, M., Gasser, Thomas, Nicolas, A., Cookson, Mark R, Faghri, Faraz, Hernández, Dena, Shulman, J., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N., Lungu, C., Scholz, S., Reed, X., Leonard, H., Rouleau, G., Krohan, L., van Hilten, J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà , Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, F., Bergareche Yarza, J., Bernal-Bernal, I., Blázquez Estrada, Marta, Bernal, M. B. T., Boungiorno, M. T, Buiza-Rueda, Dolores, Cámara, Ana, Carcel, M., Carrillo, F., Carrión-Claro, M., Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica., Dols Icardo, Oriol, Duarte, J., Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Fernández, M., Fernández-Santiago, Rubén, Garcia, C., García-Ruiz, P., Gómez-Garre, Pilar, Heredia, M. G., Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, J., Infante, J., Jesús, S., Jiménez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, J., de Munain Arregui, A. L., Macías-García, Daniel, Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J., Méndez-del-Barrio, C., Menéndez González, M., Mínguez, A., Mir, P., Rezola, E. M., Muñoz García, José Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Errazquin, F. P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, L., Taba, Pille, Majamaa, K., Siitonen, A., Okubadejo, N., Ojo, O., Ryten, Mina, Koks, S., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Medical genetic, Risk factors

وصف الملف: application/pdf

Relation: NPJ Parkinson's disease; Vol. 5 Núm. 1 (january 2019), p. 8; https://ddd.uab.cat/record/224135; urn:10.1038/s41531-019-0080-x; urn:oai:ddd.uab.cat:224135; urn:scopus_id:85078481405; urn:pmid:31123700; urn:pmcid:PMC6531455; urn:pmc-uid:6531455; urn:articleid:23738057v5n1p8; urn:oai:pubmedcentral.nih.gov:6531455; urn:oai:egreta.uab.cat:publications/88f57a66-1e07-485f-aaf5-6457fedcaf3f

الاتاحة: https://ddd.uab.cat/record/224135

المؤلفون: Billingsley, Kimberley, J, Barbosa, Ines, A, Bandrés-Ciga, Sara, Quinn, John, P, Bubb, Vivien, J, Deshpande, Charu, Botia, Juan, A, Reynolds, Regina, H, Zhang, David, Simpson, Michael, A, Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J. Raphael, Nalls, Mike, A, Singleton, Andrew, Noyce, A., Tucci, A., Middlehurst, B., Kia, D., Tan, M., Houlden, H., Morris, H, R, Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., Mok, K., Kinghorn, K., Wood, N., Lewis, P., Guerreiro, R., Lovering, R., R’bibo, L., Rizig, M., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Martinez, M., Giri, A., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M., Faghri, F., Hernandez, D., Shulman, J., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N., Lungu, C., Scholz, S., Reed, X., Leonard, H., Rouleau, G., Krohan, L., van Hilten, J., Marinus, J., Adarmes-Gómez, A., Aguilar, M., Alvarez, I., Alvarez, V., Javier Barrero, F., Bergareche Yarza, J., Bernal-Bernal, I., Blazquez, M., Bernal, M. Bonilla-Toribio, Boungiorno, M., Buiza-Rueda, Dolores, Cámara, A., Carcel, M., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, J., Compta, Y., Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R, L, Escamilla-Sevilla, F., Ezquerra, M., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M. Gomez, Gonzalez-Aramburu, I., Pagola, A. Gorostidi, Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M., Lopez-Sendon, J., de Munain Arregui, A. López, Macias, D., Torres, I. Martínez, Marín, J., Marti, M. Jose, Martínez-Castrillo, J., Méndez-Del-Barrio, C., Menéndez González, M., Mínguez, A., Mir, P., Rezola, E. Mondragon, Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. Perez, Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. Sanchez, Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. Pablo, Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Taba, P., Majamaa, K., Siitonen, A., Okubadejo, N., Ojo, O., Ryten, Mina, Koks, Sulev

المساهمون: University of Liverpool, King‘s College London, National Institutes of Health Bethesda, MD, USA (NIH), Guy's and St Thomas' NHS Foundation Trust, Universidad de Murcia, UCL Institute of Neurology, Queen Square London, McGill University = Université McGill Montréal, Canada, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), UCL Queen Square Institute of Neurology, University College of London London (UCL)

المصدر: EISSN: 2373-8057 ; npj Parkinson's Disease ; https://hal.sorbonne-universite.fr/hal-04439714 ; npj Parkinson's Disease, 2019, 5 (1), pp.8. ⟨10.1038/s41531-019-0080-x⟩

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/31123700; hal-04439714; https://hal.sorbonne-universite.fr/hal-04439714; https://hal.sorbonne-universite.fr/hal-04439714/document; https://hal.sorbonne-universite.fr/hal-04439714/file/s41531-019-0080-x.pdf; PUBMED: 31123700; PUBMEDCENTRAL: PMC6531455

الاتاحة: https://hal.sorbonne-universite.fr/hal-04439714
https://hal.sorbonne-universite.fr/hal-04439714/document
https://hal.sorbonne-universite.fr/hal-04439714/file/s41531-019-0080-x.pdf
https://doi.org/10.1038/s41531-019-0080-x

المؤلفون: Blauwendraat, C, Faghri, F, Pihlstrom, L, Geiger, JT, Elbaz, A, Lesage, S, Corvol, J-C, May, P, Nicolas, A, Abramzon, Y, Murphy, NA, Gibbs, JR, Ryten, M, Ferrari, R, Bras, J, Guerreiro, R, Williams, J, Sims, R, Lubbe, S, Hernandez, DG, Mok, KY, Robak, L, Campbell, RH, Rogaeva, E, Traynor, BJ, Chia, R, Chung, SJ, Hardy, JA, Brice, A, Wood, N, Houlden, H, Shulman, JM, Morris, HR, Gasser, T, Krueger, R, Heutink, P, Sharma, M, Simon-Sanchez, J, Nalls, MA, Singleton, AB, Scholz, S

المصدر: Neurobiology of Aging , 57 247.e9-247.e13. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Geriatrics & Gerontology, Neurosciences, Neurosciences & Neurology, Genotyping, NeuroX, NeuroChip, Genetic screening, Neurodegeneration, PARKINSONS-DISEASE, ALZHEIMERS-DISEASE, GENETIC-VARIANTS, APOLIPOPROTEIN-E, METAANALYSIS, IMPUTATION, DEMENTIA, LOCI

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1560914/1/Morris_NeuroChip_manuscript_after_comments_v3.pdf; https://discovery.ucl.ac.uk/id/eprint/1560914/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1560914/1/Morris_NeuroChip_manuscript_after_comments_v3.pdf
https://discovery.ucl.ac.uk/id/eprint/1560914/

المؤلفون: Storm, Catherine S., Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Quinn, J., Bubb, V., Mok, K. Y., Kinghorn, K. J., Lewis, P., Schreglmann, S. R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K. E., Clarke, C., Harvey, K., Jacobs, B. M., Brice, Alexis, Danjou, F., Lesage, S., Corvol, J. C., Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Schneider, S. A., Cookson, M. R., Blauwendraat, C., Craig, D. W., Billingsley, K., Makarious, M. B., Narendra, D. P., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Iwaki, H., Leonard, H. L., Nalls, M. A., Robak, L., Bras, J., Guerreiro, R., Lubbe, S., Troycoco, T., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Uitti, R. J., Ross, O. A., Grenn, F. P., Moore, A., Alcalay, R. N., Wszolek, Z. K., Gan-Or, Z., Rouleau, G. A., Krohn, L., Mufti, K., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A. D., Aguilar Barberà, Miquel, Álvarez Angulo, Iñaki, Alvarez, V., Barrero, F. J., Yarza, J. A. B., Bernal-Bernal, I., Blázquez Estrada, M, Bonilla-Toribio, M., Botía, J. A., Boungiorno, M. T., Buiza-Rueda, Dolores, Cámara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Y., Diez-Fairen, M., Dols-Icardo, Oriol, 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, M. J. G., Gonzalez-Aramburu, I., Pagola, A. G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, M. A., Lopez-Sendon, J. L., de Munain Arregui, A. L., Macias, D., Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J. C., Méndez-del-Barrio, C., González, M. M., Mata, M., Mínguez, A., Mir, P., Rezola, E. M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, Lydia, Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Taba, P., Koks, S., Hassin-Baer, S., Majamaa, K., Siitonen, A., Tienari, P., Okubadejo, N. U., Ojo, O. O., Shashkin, C., Zharkinbekova, N., Akhmetzhanov, V., Kaishybayeva, G., Karimova, A., Khaibullin, T., Lynch, T. L., Hingorani, Aroon, Wood, Nicholas W.., Universitat Autònoma de Barcelona

المساهمون: Rosetrees Trust, John Black Charitable Foundation, University College London, King Abdulaziz University, National Institute for Health Research (UK), Universidad de Cantabria, HUS Neurocenter, Department of Neurosciences, Clinicum

المصدر: Nature Communications
Nature communications, vol 12, iss 1
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications 12, 7342 (2021)
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature communications

مصطلحات موضوعية: Aging, Science, Quantitative Trait Loci, General Physics and Astronomy, Neurodegenerative, 3124 Neurology and psychiatry, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, Risk Factors, Genetics research, Genetics, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Aetiology, Multidisciplinary, Genome, Parkinson's Disease, Genome, Human, Prevention, 3112 Neurosciences, Neurosciences, Brain, Genetic Variation, Parkinson Disease, General Chemistry, Mendelian Randomization Analysis, International Parkinson’s Disease Genomics Consortium, Brain Disorders, Good Health and Well Being, Gene Expression Regulation, Neurology, 5.1 Pharmaceuticals, Case-Control Studies, Neurological, Disease Progression, Development of treatments and therapeutic interventions, Human, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1850036eb6e66fae1a9603349cc8e995
http://hdl.handle.net/10261/269504

المؤلفون: Kia, D A, Zhang, D, Guelfi, S, Manzoni, C, Hubbard, L, Reynolds, R H, Botía, J, Ryten, M, Ferrari, R, Lewis, P A, Williams, N, Trabzuni, D, Hardy, J, Wood, N W, Noyce, A J, Kaiyrzhanov, R, Middlehurst, B, Tan, M, Houlden, H, Morris, H R, Plun-Favreau, H, Holmans, P, Bras, J, PhD, J Q, Mok, K Y, Kinghorn, K J, Billingsley, K, Lewis, P, Schreglmann, S, Guerreiro, R, Lovering, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, 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, Nicolas, A, Cookson, M R, Bandres-Ciga, S, Blauwendraat, C, Craig, D W, Faghri, F, Gibbs, J R, Hernandez, D G, Van Keuren-Jensen, K, Shulman, J M, Leonard, H L, Nalls, M A, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N E, Lungu, C, Singleton, A B, Scholz, S W, Reed, X, Alcalay, R N, Gan-Or, Z, Rouleau, G A, Krohn, L, van Hilten, J J, Marinus, J, Adarmes-Gómez, A D, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J A, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio, M, Botía, J A, Boungiorno, M T, Buiza-Rueda, D, Càmara, 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, Fernàndez, M, Fernàndez-Santiago, R, Garcia, C, García-Ruiz, P, Gómez-Garre, P, Gomez Heredia, M J, Gonzalez-Aramburu, I, Pagola, A G, Hoenicka, J, Infante, J, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M A, Lopez-Sendon, J L, Arregui, ALDM, Macias, D, Torres, I M, Marín, J, Marti, M J, Martínez-Castrillo, J C, Mèndez-del-Barrio, C, González, M M, Adolfo Mínguez, M M, Mir, P, Rezola, E M, Muñoz, E, Pagonabarraga, J, Pastor, P, Errazquin, F P, Perinán-Tocino, T, Ruiz-Martínez, J, Ruz, C, Rodriguez, A S, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Tartari, J P, 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, Weale, M, Ramasamy, A, Smith, C, Guelfi, M S, D'sa, K, Forabosco, P, Botiá, J A

Relation: ispartof: JAMA neurology spage 464 epage 472 issue 4 vol 78; 991005634024907891; alma:61MUN_INST/bibs/991005634024907891

الاتاحة: https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Identification-of-Candidate-Parkinson-Disease-Genes/991005634024907891

المؤلفون: Chen, Z., Zhang, D., Reynolds, R.H., Gustavsson, E.K., García-Ruiz, S., D'Sa, K., Fairbrother-Browne, A., Vandrovcova, J., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Morris, H.R., Plun-Favreau, H., Holmans, P., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, Rita, Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Corvol, Jean-Christophe, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R, Bandres-Ciga, S., Blauwendraat, Cornelis, Craig, David W, Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A. B., Scholz, S.W., Reed, X., Alcalay, Roy N, Gan-Or, Z., Rouleau, G.A., Krohn, L., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, V., Barrero, F. J, Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, Marta, Botía, J., Boungiorno, M.T., Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, M., Dols Icardo, Oriol, Duarte, J., Duran, Raquel, Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga Mora, Javier, Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, Alexander, Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Hardy, J., Houlden, Henry, Gagliano Taliun, S. A., Ryten, M., Universitat Autònoma de Barcelona

المساهمون: Universidad de Cantabria, Lord Leonard and Lady Estelle Wolfson Foundation, Medical Research Council (UK), Dementia Research Institute (UK), Alzheimer Society, Alzheimer's Research UK, Wellcome Trust, Dolby Family Fund, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Agencia Estatal de Investigación (España), Fundación Séneca, Gobierno de la Región de Murcia

المصدر: Nature communications, vol 12, iss 1
Nature Communications 12, 2076 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature communications
Nature Communications
Digital.CSIC. Repositorio Institucional del CSIC
instname
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)

مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, Aging, Messenger, General Physics and Astronomy, Neurodegenerative, Alzheimer's Disease, Genome, Linkage Disequilibrium, Negative selection, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, health care economics and organizations, Conserved Sequence, Phylogeny, Multidisciplinary, Brain, Neurodegenerative Diseases, Single Nucleotide, Alzheimer's disease, Phenotype, International Parkinson’s Disease Genomics Consortium, Neurological, Regression Analysis, Long Noncoding, DNA, Intergenic, RNA, Long Noncoding, Human, Biotechnology, Lineage (genetic), Science, 1.1 Normal biological development and functioning, Computational biology, Biology, Polymorphism, Single Nucleotide, Article, General Biochemistry, Genetics and Molecular Biology, Chromosomes, 03 medical and health sciences, Apolipoproteins E, Underpinning research, Alzheimer Disease, Genetic variation, Genetics, Acquired Cognitive Impairment, Humans, RNA, Messenger, Polymorphism, Gene, Whole genome sequencing, Intergenic, Pair 19, Genome, Human, Human Genome, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Molecular Sequence Annotation, General Chemistry, DNA, Introns, Brain Disorders, 030104 developmental biology, Gene Ontology, RNA, Dementia, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d89fb6c0172da3ad22f71ca50851027
https://ddd.uab.cat/record/272005

المؤلفون: Leonard H, Lake J, Kim JJ, Gibbs JR, Ruskey JA, Pihlstrøm L, Eerola-Rautio J, Tienari PJ, Grosset DG, Wood N, Noyce AJ, Middlehurst B, Kia DA, Tan M, Houlden H, Storm CS, Morris HR, Plun-Favreau H, Holmans P, Hardy J, 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, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Rizzu P, Sharma M, Gasser T, Schneider SA, Cookson MR, Bandres-Ciga S, Blauwendraat C, Craig DW, Billingsley K, Makarious MB, Narendra DP, Faghri F, Hernandez DG, Van Keuren-Jensen K, Shulman JM, Iwaki H, Leonard HL, Nalls MA, Robak L, Bras J, Guerreiro R, Lubbe S, Troycoco T, Finkbeiner S, Mencacci NE, Lungu C, Singleton AB, Scholz SW, Reed X, Uitti RJ, Ross OA, Grenn FP, Moore A, Alcalay RN, Wszolek ZK, Gan-Or Z, Rouleau GA, Krohn L, Mufti K, 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, 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, Toft M, Taba P, Koks S, Hassin-Baer S, Majamaa K, Siitonen A, Tienari P, Okubadejo NU, Ojo OO, Kaiyrzhanov R, Shashkin C, Zharkinbekova N, Akhmetzhanov V, Kaishybayeva G, Karimova A, Khaibullin T, Lynch TL, International Parkinson's Disease Genomics Consortium (IPDGC)

المصدر: ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::7ec1f9e0ec301d6ccd9b7d2ba0f2d2f2
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19436

المؤلفون: Guelfi S., D’Sa K., Botía J.A., Vandrovcova J., Reynolds R.H., Zhang D., Trabzuni D., Collado-Torres L., Thomason A., Quijada Leyton P., Gagliano Taliun S.A., Nalls M.A., Noyce A.J., Nicolas A., Cookson M.R., Bandres-Ciga S., Gibbs J.R., Hernandez D.G., Singleton A.B., Reed X., Leonard H., Blauwendraat C., Faghri F., Bras J., Guerreiro R., Tucci A., Kia D.A., Houlden H., Plun-Favreau H., Mok K.Y., Wood N.W., Lovering R., R’Bibo L., Rizig M., Chelban V., Tan M., Morris H.R., Middlehurst B., Quinn J., Billingsley K., Holmans P., Kinghorn K.J., Lewis P., Escott-Price V., Williams N., Foltynie T., Brice A., Danjou F., Lesage S., Corvol J.-C., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Gasser T., Rizzu P., Sharma M., Shulman J.M., Robak L., Lubbe S., Mencacci N.E., Finkbeiner S., Lungu C., Scholz S.W., Gan-Or Z., Rouleau G.A., Krohan L., van Hilten J.J., Marinus J., Adarmes-Gómez A.D., Bernal-Bernal I., Bonilla-Toribio M., Buiza-Rueda D., Carrillo F., Carrión-Claro M., Mir P., Gómez-Garre P., Jesús S., Labrador-Espinosa M.A., Macias D., Vargas-González L., Méndez-del-Barrio C., Periñán-Tocino T., Tejera-Parrado C., Diez-Fairen M., Aguilar M., Alvarez I., Boungiorno M.T., Carcel M., Pastor P., Tartari J.P., Alvarez V., González M.M., Blazquez M., Garcia C., Suarez-Sanmartin E., Barrero F.J., Rezola E.M., Yarza J.A.B., Pagola A.G., Arregui A.L.M., Ruiz-Martínez J., Cerdan D., Duarte J., Clarimón J., Dols-Icardo O., Infante J., Marín J., Kulisevsky J., Pagonabarraga J., Gonzalez-Aramburu I., Rodriguez A.S., Sierra M., Duran R., Ruz C., Vives F., Escamilla-Sevilla F., Mínguez A., Cámara A., Compta Y., Ezquerra M., Marti M.J., Fernández M., Muñoz E., Fernández-Santiago R., Tolosa E., Valldeoriola F., García-Ruiz P., Heredia M.J.G., Errazquin F.P., Hoenicka J., Jimenez-Escrig A., Martínez-Castrillo J.C., Lopez-Sendon J.L., Torres I.M., Tabernero C., Vela L., Zimprich A., Pihlstrom L., Koks S., Taba P., Majamaa K., Siitonen A., Okubadejo N.U., Ojo O.O., Forabosco P., Walker R., Small K.S., Smith C., Ramasamy A., Hardy J., Weale M.E., Ryten M.

المصدر: Nature Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: medicine, RNA splicing, phenotype, brain, genotype, Quantitative Trait Loci, genetic analysis, Polymorphism, Single Nucleotide, Article, genetic regulation, mental disease, transcriptomics, quantitative trait locus, expression quantitative trait locus, single nucleotide polymorphism, Humans, genetics, human, reproducibility, Alleles, Neurons, genome-wide association study, human cell, allele, Putamen, Reproducibility of Results, RNA sequencing, Parkinson Disease, gene expression regulation, cell, cohort analysis, neurologic disease, human tissue, schizophrenia, Substantia Nigra, disease incidence, physiology, gene expression, RNA, physiological response, Nervous System Diseases, nerve cell, Transcriptome, nervous system disorder, basal ganglion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::3314ca6accb3f74e3424a11abee9f252
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10265

المؤلفون: Reynolds, R.H., Botia, J., Nalls, M.A., Hardy, J., Taliun, S.A.G., Ryten, M., Noyce, A.J., Nicolas, A., Cookson, M.R., Bandres-Ciga, S., Gibbs, J.R., Hernandez, D.G., Singleton, A.B., Reed, X., Leonard, H., Blauwendraat, C., Faghri, F., Bras, J., Guerreiro, R., Tucci, A., Kia, D.A., Houlden, H., Plun-Favreau, H., Mok, K.Y., Wood, N.W., Lovering, R., R'Bibo, L., Rizig, M., Chelban, V., Trabzuni, D., Tan, M., Morris, H.R., Middlehurst, B., Quinn, J., Billingsley, K., Holmans, P., Kinghorn, K.J., Lewis, P., Escott-Price, V., Williams, N., Foltynie, T., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Giri, A., Schulte, C., Brockmann, K., Simon-Sanchez, J., Heutink, P., Gasser, T., Rizzu, P., Sharma, M., Shulman, J.M., Robak, L., Lubbe, S., Mencacci, N.E., Finkbeiner, S., Lungu, C., Scholz, S.W., Gan-Or, Z., Rouleau, G.A., Krohan, L., Hilten, J.J. van, Marinus, J., Adarmes-Gomez, A.D., Bernal-Bernal, I., Bonilla-Toribio, M., Buiza-Rueda, D., Carrillo, F., Carrion-Claro, M., Mir, P., Gomez-Garre, P., Jesus, S., Labrador-Espinosa, M.A., Macias, D., Vargas-Gonzalez, L., Mendez-del-Barrio, C., Perinan-Tocino, T., Tejera-Parrado, C., Diez-Fairen, M., Aguilar, M., Alvarez, I., Boungiorno, M.T., Carcel, M., Pastor, P., Tartari, J.P., Alvarez, V., Gonzalez, M.M., Blazquez, M., Garcia, C., Suarez-Sanmartin, E., Barrero, F.J., Rezola, E.M., Yarza, J.A.B., Pagola, A.G., Arregui, A.L.D., Ruiz-Martinez, J., Cerdan, D., Duarte, J., Clarimon, J., Dols-Icardo, O., Infante, J., Marin, J., Kulisevsky, J., Pagonabarraga, J., Gonzalez-Aramburu, I., Rodriguez, A.S., Sierra, M., Duran, R., Ruz, C., Vives, F., Escamilla-Sevilla, F., Minguez, A., Camara, A., Compta, Y., Ezquerra, M., Marti, M.J., Fernandez, M., Munoz, E., Fernandez-Santiago, R., Tolosa, E., Valldeoriola, F., Garcia-Ruiz, P., Heredia, M.J.G., Errazquin, F.P., Hoenicka, J., Jimenez-Escrig, A., Martinez-Castrillo, J.C., Lopez-Sendon, J.L., Torres, I.M., Tabernero, C., Vela, L., Zimprich, A., Pihlstrom, L., Koks, S., Taba, P., Majamaa, K., Siitonen, A., Okubadejo, N.U., Ojo, O.O., Pitcher, T., Anderson, T., Bentley, S., Fowdar, J., Mellick, G., Dalrymple-Alford, J., Henders, A.K., Kassam, I., Montgomery, G., Sidorenko, J., Zhang, F.T., Xue, A.L., Vallerga, C.L., Wallace, L., Wray, N.R., Yang, J., Visscher, P.M., Gratten, J., Silburn, P.A., Halliday, G., Hickie, I., Kwok, J., Lewis, S., Kennedy, M., Pearson, J., Int Parkinsons Dis Genomics, Syst Genomics Parkinsons Dis

المصدر: npj Parkinson's Disease, 5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::15558a829cd2ccd32d8196e2ff7c4991
https://hdl.handle.net/1887/120798

المؤلفون: Blauwendraat C., Kia D. A., Pihlstrom L., Gan-Or Z., Lesage S., Gibbs J. R., Ding J., Alcalay R. N., Hassin-Baer S., Pittman A. M., Brooks J., Edsall C., Chung S. J., Goldwurm S., Toft M., Schulte C., Hernandez D., Singleton A. B., Nalls M. A., Brice A., Scholz S. W., Wood N. W., Noyce A. J., Tucci A., Charlesworth G., Tan M., Houlden H., Morris H. R., Plun-Favreau H., Holmans P., Hardy J., Bras J. M., Quinn J., Mok K. Y., Billingsley K., Lewis P., Guerreiro R., Lovering R., Ogalla R. D., R'bibo L., Ryten M., Escott-Price V., Chelban V., Foltynie T., Sheerin U. -M., Williams N., Danjou F., Corvol J. -C., Martinez M., Giri A., Oehmig A., Brockmann K., Simon-Sanchez J., Heutink P., Rizzu P., Sharma M., Gasser T., Nicolas A., Cookson M. R., Bandres-Ciga S., Faghri F., Shulman J. M., Robak L., Lubbe S., Finkbeiner S., Mencacci N. E., Lungu C., Reed X., Rouleau G. A., Hilten J. J., Marinus J., Botia J. A., Clarimon J., Dols-Icardo O., Kulisevsky J., Pagonabarraga J., Marin J., Koks S., Taba P., Kruger R., Wang L., Oertel W., Klein C., Mohamed F., Artaud F., Elbaz A., Corti O., Drouet V., Tesei S., Canesi M., Valente E. M., Petrucci S., Ginevrino M., Aasly J., Saetehaug C., Henriksen S. P., Orr-Urtreger A., Giladi N., Ferreira J., Guedes L. C., Bouca-Machado R., Coelho M., Rosa M. M., Tolosa E., Fernandez-Santiago R., Ezquerra M., Marti M. J., May P., Glaab E., Balling R.

المساهمون: Blauwendraat, C., Kia, D. A., Pihlstrom, L., Gan-Or, Z., Lesage, S., Gibbs, J. R., Ding, J., Alcalay, R. N., Hassin-Baer, S., Pittman, A. M., Brooks, J., Edsall, C., Chung, S. J., Goldwurm, S., Toft, M., Schulte, C., Hernandez, D., Singleton, A. B., Nalls, M. A., Brice, A., Scholz, S. W., Wood, N. W., Noyce, A. J., Tucci, A., Charlesworth, G., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Bras, J. M., Quinn, J., Mok, K. Y., Billingsley, K., Lewis, P., Guerreiro, R., Lovering, R., Ogalla, R. D., R'Bibo, L., Ryten, M., Escott-Price, V., Chelban, V., Foltynie, T., Sheerin, U. -M., Williams, N., Danjou, F., Corvol, J. -C., Martinez, M., Giri, A., Oehmig, A., Brockmann, K., Simon-Sanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R., Bandres-Ciga, S., Faghri, F., Shulman, J. M., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N. E., Lungu, C., Reed, X., Rouleau, G. A., Hilten, J. J., Marinus, J., Botia, J. A., Clarimon, J., Dols-Icardo, O., Kulisevsky, J., Pagonabarraga, J., Marin, J., Koks, S., Taba, P., Kruger, R., Wang, L., Oertel, W., Klein, C., Mohamed, F., Artaud, F., Elbaz, A., Corti, O., Drouet, V., Tesei, S., Canesi, M., Valente, E. M., Petrucci, S., Ginevrino, M., Aasly, J., Saetehaug, C., Henriksen, S. P., Orr-Urtreger, A., Giladi, N., Ferreira, J.

مصطلحات موضوعية: H50Q, His50Gln, Parkinson's disease, SNCA

وصف الملف: STAMPA

Relation: volume:64; firstpage:159e5; lastpage:159e8; numberofpages:1; journal:NEUROBIOLOGY OF AGING; https://hdl.handle.net/11571/1465414; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041606064

الاتاحة: https://hdl.handle.net/11571/1465414
https://doi.org/10.1016/j.neurobiolaging.2017.12.012

المؤلفون: Yan, K.Z., Rousseau, J., Littlejohn, R.O., Kiss, C., Lehman, A., Rosenfeld, J.A., Stumpel, C.T.R., Stegmann, A.P.A., Robak, L., Scaglia, F., Nguyen, T.T.M., Fu, H., Ajeawung, N.F., Camurri, M.V., Li, L., Gardham, A., Panis, B., Almannai, M., Sacoto, M.J.G., Baskin, B., Ruivenkamp, C., Xia, F., Bi, W., Cho, M.T., Potjer, T.P., Santen, G.W.E., Parker, M.J., Canham, N., McKinnon, M., Potocki, L., MacKenzie, J.J., Roeder, E.R., Campeau, P.M., Yang, X.J., DDD Study, CAUSES Study

المساهمون: MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9)

المصدر: American Journal of Human Genetics, 100(1), 91-104. Cell Press
American Journal of Human Genetics, 100(1), 91-104

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, PZP DOMAIN, HBO1 ACETYLTRANSFERASE, Histones, Mice, Intellectual disability, Global developmental delay, Child, Genetics (clinical), Histone Acetyltransferases, Genetics, Mice, Knockout, ZINC-FINGER PROTEIN, Nuclear Proteins, Acetylation, Syndrome, Chromatin, DNA-Binding Proteins, Histone, Muscle Hypotonia, Female, EXPRESSION, Adolescent, Biology, KAT6B, Article, 03 medical and health sciences, Histone H3, Intellectual Disability, medicine, Animals, Humans, HEMATOPOIETIC STEM-CELLS, Epigenetics, Histone H3 acetylation, Alleles, Adaptor Proteins, Signal Transducing, CAUSE GENITOPATELLAR SYNDROME, Lysine, PHD FINGER, medicine.disease, Bromodomain, Mice, Inbred C57BL, 030104 developmental biology, DE-NOVO MUTATIONS, Face, Mutation, biology.protein, Carrier Proteins, CAENORHABDITIS-ELEGANS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72412f00f38dd65a2b036a0855313d99
https://doi.org/10.1016/j.ajhg.2016.11.011

المؤلفون: Fernandez-Santiago, R., Martin-Flores, N., Antonelli, F., Cerquera, C., Moreno, V., Bandres-Ciga, S., Manduchi, E., Tolosa, E., Singleton, A.B., Moore, J.H., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Schulte, C., Brockmann, K., Simoon-Saanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Faghri, F., Gibbs, J.R., Hernandez, D.G., Keuren-Jensen, K. van, Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Scholz, S.W., Reed, X., Alcalay, R.N., Gan-Or, Z., Rouleau, G.A., Krohn, L., Hilten, J.J. van, Marinus, J., Adarmes-Goomez, A.D., Aguilar, I., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botia, J.A., Boungiorno, M.T., Buiza-Rueda, D., Camara, A., Carrillo, F., Carrion-Claro, M., Cerdan, D., Clarimon, J., Compta, Y., Casa, B. de la, Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernandez, M., Garcia, C., Garcia-Ruiz, P., Gomez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesus, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., Arregui, A.L.D., Macias, D., Torres, I.M., Marin, J., Marti, M.J., Martinez-Castrillo, C., Mendez-del-Barrio, C., Gonzalez, M.M., Mata, M., Minguez, A., Mir, P., Rezola, E.M., Munoz, E., Pagonabarraga, J., Pascual-Sedano, B., Pastor, P., Errazquin, F.P., Perinan-Tocino, T., Ruiz-Martinez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Valldeoriola, F., Vargas-Gonzalez, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Malagelada, C., Int Parkinson's Dis Genomics Conso

مصطلحات موضوعية: age at onset, alpha-synuclein, epistasis, mTOR, Parkinson's disease, SNP

Relation: ispartof: Movement Disorders spage 1333 epage 1344 issue 9 vol 34; WOS:000486741500017; 991005634461407891; alma:61MUN_INST/bibs/991005634461407891

الاتاحة: https://doi.org/10.1002/mds.27770
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/SNCA-and-mTOR-Pathway-Single-Nucleotide/991005634461407891

المؤلفون: Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P, Bubb, Vivien J, Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A, Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev, Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O, IPDGC

وصف الملف: text

Relation: http://livrepository.liverpool.ac.uk/3043291/1/Resubmit.Genetic%20variation%20within%20genes%20associated%20with%20mitochondrial%20function%20is%20significantly%20associated%20with%20later%20age%20of%20onset%20of%20Parkinson%20disease%20and%20contributes%20to%20disease%20risk.%20KB%20-%20Google%20Docs.pdf; Collapse authors list. Billingsley, Kimberley J, Barbosa, Ines A, Bandres-Ciga, Sara, Quinn, John P orcid:0000-0003-3551-7803 , Bubb, Vivien J orcid:0000-0003-2763-7004 , Deshpande, Charu, Botia, Juan A, Reynolds, Regina H, Zhang, David, Simpson, Michael A et al (show 136 more authors) , Blauwendraat, Cornelis, Gan-Or, Ziv, Gibbs, J Raphael, Nalls, Mike A, Singleton, Andrew, Ryten, Mina, Koks, Sulev orcid:0000-0001-6087-6643 , Noyce, A, Tucci, A, Middlehurst, B, Kia, D, Tan, M, Houlden, H, Morris, HR, Plun-Favreau, H, Holmans, P, Hardy, J, Trabzuni, D, Bras, J, Mok, K, Kinghorn, K, Wood, N, Lewis, P, Guerreiro, R, Loverin, R, R'Bibo, L, Rizig, M, Escott-Price, V, Chelban, V, Foltynie, T, Williams, N, Brice, A, Danjou, F, Lesage, S, Martinez, M, Giri, A, Schulte, C, Brockmann, K, Simon-Sanchez, J, Heutink, P, Rizzu, P, Sharma, M, Gasser, T, Nicolas, A, Cookson, M, Faghri, F, Hernandez, D, Shulman, J, Robak, L, Lubbe, S, Finkbeiner, S, Mencacci, N, Lungu, C, Scholz, S, Reed, X, Leonard, H, Rouleau, G, Krohan, L, van Hilten, J, Marinus, J, Adarmes-Gomez, A, Aguilar, M, Alvarez, I, Alvarez, V, Javier Barrero, F, Bergareche Yarza, J, Bernal-Bernal, I, Blazquez, M, Bonilla-Toribio Bernal, M, Boungiorne, M, Buiza-Rueda, Dolores, Camara, A, Carcel, M, Carrillo, F, Carrion-Claro, M, Cerdan, D, Clarimon, J, Compta, Y, Diez-Fairen, M, Dols-Icardo, O, Duarte, J, Duran, RI, Escamilla-Sevilla, F, Ezquerra, M, Fernandez, M, Fernandez-Santiago, R, Garcia, C, Garcia-Ruiz, P, Gomez-Garre, P, Gomez Heredia, M, Gonzalez-Aramburu, I, Gorostidi Pagola, A, Hoenicka, J, Infante, J, Jesus, S, Jimenez-Escrig, A, Kulisevsky, J, Labrador-Espinosa, M, Lopez-Sendon, J, de Munain Arregui, A Lopez, Macias, D, Martinez Torres, I, Marin, J, Jose Marti, M, Martinez-Castrillo, J, Mendez-del-Barrio, C, Menendez Gonzalez, M, Minguez, A, Mir, P, Mondragon Rezola, E, Munoz, E, Pagonabarraga, J, Pastor, P, Perez Errazquin, F, Perinan-Tocino, T, Ruiz-Martinez, J, Ruz, C, Sanchez Rodriguez, A, Sierra, M, Suarez-Sanmartin, E, Tabernero, C, Pablo Tartari, J, Tejera-Parrado, C, Tolosa, E, Valldeoriola, F, Vargas-Gonzalez, L, Vela, L, Vives, F, Zimprich, A, Pihlstrom, L, Taba, P, Majamaa, K, Siitonen, A, Okubadejo, N, Ojo, O and IPDGC, (2019) Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ PARKINSONS DISEASE, 5 (1). 8-.

الاتاحة: http://livrepository.liverpool.ac.uk/3043291/
https://www.nature.com/articles/s41531-019-0080-x#citeas
http://livrepository.liverpool.ac.uk/3043291/1/Resubmit.Genetic%20variation%20within%20genes%20associated%20with%20mitochondrial%20function%20is%20significantly%20associated%20with%20later%20age%20of%20onset%20of%20Parkinson%20disease%20and%20contributes%20to%20disease%20risk.%20KB%20-%20Google%20Docs.pdf