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1دورية أكاديمية
المؤلفون: Perez-Navarro, E., Conteduca, V., González-del-Alba, A., Mellado, B., Cremaschi, P., Fernandez-Calvo, O., Méndez-Vidal, M.J., Climent, M.A., Duran, I., Font, A., Fernandez-Perez, M.P., Martínez, A., López-Andreo, M.J., Attard, G., Castellano, D., Grande, E., de Giorgi, U., Botia, J.A., Palma Méndez, J.T., Gonzalez-Billalabeitia, E.
المصدر: Annals of Oncology ; volume 33, issue 4, page 455 ; ISSN 0923-7534
مصطلحات موضوعية: Oncology, Hematology
الإتاحة: https://doi.org/10.1016/j.annonc.2022.01.010Test
https://api.elsevier.com/content/article/PII:S0923753422000199?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0923753422000199?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Efthymiou, S., Salpietro, V., Malintan,N., Poncelet, M., Kriouile, Y., Fortuna, S., De Zorzi, R., Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., SYNAPS Study Group, Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., De Lonlay, P., Cantagrel, V., Aguennouz, M., El Khorassani, M., Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., Cormand Rifà, Bru
المصدر: Articles publicats en revistes (Genètica, Microbiologia i Estadística)
مصطلحات موضوعية: Neurobiologia del desenvolupament, Malalties del sistema nerviós, Axons, Neurones, Developmental neurobiology, Nervous system Diseases, Neurons
وصف الملف: 17 p.; application/pdf
العلاقة: Reproducció del document publicat a: https://doi.org/10.1093/brain/awz248Test; Brain, 2019, vol. 142, num. 10, p. 2948-2964; https://doi.org/10.1093/brain/awz248Test; http://hdl.handle.net/2445/194448Test; 693882
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3دورية أكاديمية
المؤلفون: Jansen, I.E., Ye, H., Heetveld, S., Lechler, M.C., Michels, H., Seinstra, R.I., Lubbe, S.J., Drouet, V., Lesage, S., Majounie, E., Gibbs, J.R., Nalls, M.A., Ryten, M., Botia, J.A., Vandrovcova, J., Simon-Sanchez, J., Castillo-Lizardo, M., Rizzu, P., Blauwendraat, C., Chouhan, A.K.
مصطلحات موضوعية: International Parkinson’s Disease Genetics Consortium (IPGDC), Cells, Cultured, Animals, Genetically Modified, Humans, Drosophila melanogaster, Caenorhabditis elegans, Parkinson Disease, Disease Models, Animal, Genetic Predisposition to Disease, Case-Control Studies, Sequence Analysis, DNA, RNA Interference, Adolescent, Adult, Middle Aged, Child, alpha-Synuclein, Young Adult, High-Throughput Nucleotide Sequencing, Exome
وصف الملف: application/pdf
العلاقة: Genome Biology, 2017; 18(1):1-26; https://hdl.handle.net/2440/132788Test
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4دورية أكاديمية
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.
المصدر: 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, ....
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/63445Test/; full_text_status:public
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5دورية أكاديميةMitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset
المؤلفون: Billingsley, K.J., Barbosa, I.A., Bandres-Ciga, S., Quinn, J.P., Bubb, V.J., Deshpande, C., Botia, J.A., Reynolds, R.H., Zhang, D., Simpson, M.A., Blauwendraat, C., Gan-Or, Z., Gibbs, J.R., Nalls, M.A., Singleton, A., Ryten, M., Koks, S., 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., 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., Hilten, J. van, Marinus, J., Adarmes-Gomez, A., Aguilar, M., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.B., Bernal-Bernal, I., Blazquez, M., Bernal, M.B.T., Boungiorne, M., Buiza-Rueda, D., Camara, A., Carcel, M., Carrillo, F., Carrion-Claro, M., Cerdan, D., Clarimon, J., Compta, Y., Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R.I., Escamilla-Sevilla, F., Ezquerra, M., Fernandez, M., Fernandez-Santiago, R., Garcia, C., Garcia-Ruiz, P., Gomez-Garre, P., Heredia, M.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesus, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M., Lopez-Sendon, J., Arregui, A.L.D., Macias, D., Torres, I.M., Marin, J., Marti, M.J., Martinez-Castrillo, J., Mendez-del-Barrio, C., Gonzalez, M.M., Minguez, A., Mir, P., Rezola, E.M., Munoz, E., Pagonabarraga, J., 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., 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
المصدر: npj Parkinson's Disease
العلاقة: lumc-id: 111401154; https://hdl.handle.net/1887/3195223Test
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6دورية أكاديمية
المؤلفون: Chelban, V., Wilson, M.P., Chardon, J.W., Vandrovcova, J., Zanetti, M.N., Zamba-Papanicolaou, E., Efthymiou, S., Pope, S., Conte, M.R., Abis, G., Liu, Y.T., Tribollet, E., Haridy, N.A., Botia, J.A., Ryten, M., Nicolaou, P., Minaidou, A., Christodoulou, K., Kernohan, K.D., Eaton, A., Osmond, M., Ito, Y., Bourque, P., Jepson, J.E.C., Bello, O., Bremner, F., Cordivari, C., Reilly, M.M., Foiani, M., Heslegrave, A., Zetterberg, H., Heales, S.J.R., Wood, N.W., Rothman, J.E., Boycott, K.M., Mills, P.B., Clayton, P.T., Houlden, H., Care4Rare Canada Consortium, SYNaPS Study Grp
المصدر: Annals of Neurology
العلاقة: lumc-id: 81356050; https://hdl.handle.net/1887/122249Test
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7دورية أكاديمية
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
المصدر: Movement Disorders
مصطلحات موضوعية: age at onset, alpha-synuclein, epistasis, mTOR, Parkinson's disease, SNP
العلاقة: lumc-id: 63976928; https://hdl.handle.net/1887/120803Test
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8دورية أكاديمية
المؤلفون: Nalls, M.A., Blauwendraat, C., Vallerga, C.L., Heilbron, K., Bandres-Ciga, S., Chang, D., Tan, M., Kia, D.A., Noyce, A.J., Xue, A., Bras, J., Young, E., Coelln, R. von, Simon-Sanchez, J., Schulte, C., Sharma, M., Krohn, L., Pihlstrom, L., Siitonen, A., Iwaki, H., Leonard, H., Faghri, F., Gibbs, J.R., Hernandez, D.G., Scholz, S.W., Botia, J.A., Martinez, M., Corvol, J.C., Lesage, S., Jankovic, J., Shulman, L.M., Sutherland, M., Tienari, P., Majamaa, K., Toft, M., Andreassen, O.A., Bangale, T., Brice, A., Yang, J., Gan-Or, Z., Gasser, T., Heutink, P., Shulman, J.M., Wood, N.W., Hinds, D.A., Hardy, J.A., Morris, H.R., Gratten, J., Visscher, P.M., Graham, R.R., Singleton, A.B., 23 Me Res Team, Syst Genomics Parkinson's Dis, Int Parkinson's Dis Genomics
المصدر: The Lancet Neurology
العلاقة: lumc-id: 111407367; https://hdl.handle.net/1887/3195226Test
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9Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
المؤلفون: Billingsley K.J., Barbosa I.A., Bandrés-Ciga S., Quinn J.P., Bubb V.J., Deshpande C., Botia J.A., Reynolds R.H., Zhang D., Simpson M.A., Blauwendraat C., Gan-Or Z., Gibbs J.R., Nalls M.A., Singleton A., 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.B.-T., Boungiorno M., Buiza-Rueda D., 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., Escamilla-Sevilla F., Ezquerra M., Fernández M., Fernández-Santiago R., Garcia C., García-Ruiz P., Gómez-Garre P., Heredia M.G., Gonzalez-Aramburu I., Pagola A.G., Hoenicka J., Infante J., Jesús S., Jimenez-Escrig A., Kulisevsky J., Labrador-Espinosa M., Lopez-Sendon J., de Munain Arregui A.L., Macias D., 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 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., Taba P., Majamaa K., Siitonen A., Okubadejo N., Ojo O., Ryten M., Koks S.
المصدر: npj Parkinsons Disease
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: genotype, Mendelian randomization analysis, CLN8 gene, MUC1 gene, genetic analysis, bioenergy, genetic risk, genetic risk score, Article, ATG14 gene, disorders of mitochondrial functions, MRPS34 gene, degenerative disease, mitochondrial gene, EP300 gene, gene mutation, human, MPI gene, gene, molecular phylogeny, LMBRD1 gene, genome-wide association study, monogenic disorder, mitochondrial dynamics, Parkinson disease, E2F1 gene, mitophagy, CAPRIN2 gene, priority journal, risk factor, LGALS3 gene, disease exacerbation, gene expression, gene ontology, meta analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9375763f2b9ae8b0fc7b9fdef2856c1fTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=10173Test -
10دورية أكاديمية
المؤلفون: Billingsley, K.J., Barbosa, I.A., Bandrés-Ciga, S., Quinn, J.P., Bubb, V.J., Deshpande, C., Botia, J.A., Reynolds, R.H., Simpson, M.A., Blauwendraat, C., Gan-Or, Z., Gibbs, J.R., Nalls, M.A., Singleton, A., Ryten, M., Kõks, S.
المصدر: Billingsley, K.J., Barbosa, I.A., Bandrés-Ciga, S., Quinn, J.P., Bubb, V.J., Deshpande, C., Botia, J.A., Reynolds, R.H., Simpson, M.A., Blauwendraat, C., Gan-Or, Z., Gibbs, J.R., Nalls, M.A., Singleton, A., Ryten, M. and Kõks, S. (2018) Genetic variation within genes associated with mitochondrial function is significantly associated with later age at onset of Parkinson disease and contributes to disease risk. bioRxiv .
العلاقة: https://researchrepository.murdoch.edu.au/id/eprint/51018Test/; full_text_status:public
النص الكامل