학술논문
'학술논문'
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1~10
Academic Journal
Adarmes-Gómez, Astrid D; Aguilar, Miquel; Aitkulova, Akbota; Akhmetzhanov, Vadim; Alcalay, Roy N; Alvarez, Ignacio; Alvarez, Victoria; Bandres-Ciga, Sara; Barrero, Francisco Javier; Bergareche Yarza, Jesús Alberto; Bernal-Bernal, Inmaculada; Billingsley, Kimberley; Blauwendraat, Cornelis; Blazquez, Marta; Bonilla-Toribio, Marta; Botía, Juan A; Boungiorno, María Teresa; Bras, Jose; Brice, Alexis; Brockmann, Kathrin; Bubb, Vivien; Buiza-Rueda, Dolores; Cámara, Ana; Carrillo, Fátima; Carrión-Claro, Mario; Cerdan, Debora; Chelban, Viorica; Clarimón, Jordi; Clarke, Carl; Compta, Yaroslau; Cookson, Mark R; Corvol, Jean-Christophe; Craig, David W; Danjou, Fabrice; Diez-Fairen, Monica; Dols-Icardo, Oriol; Duarte, Jacinto; Duran, Raquel; Escamilla-Sevilla, Francisco; Escott-Price, Valentina; Ezquerra, Mario; Faghri, Faraz; Feliz, Cici; Fernández, Manel; Fernández-Santiago, Rubén; Finkbeiner, Steven; Foltynie, Thomas; Gan-Or, Ziv; Garcia, Ciara; García-Ruiz, Pedro; Gasser, Thomas; Gibbs, J Raphael; Gomez Heredia, Maria Jose; Gómez-Garre, Pilar; González, Manuel Menéndez; Gonzalez-Aramburu, Isabel; Guelfi, Sebastian; Guerreiro, Rita; Hardy, John; Hassin-Baer, Sharon; Hernandez, Dena G; Heutink, Peter; Hoenicka, Janet; Holmans, Peter; Houlden, Henry; Infante, Jon; Iwaki, Hirotaka; Jesús, Silvia; Jimenez-Escrig, Adriano; Kaishybayeva, Gulnaz; Kaiyrzhanov, Rauan; Karimova, Altynay; Kia, Demis A; Kinghorn, Kerri J; Koks, Sulev; Krohn, Lynne; Kulisevsky, Jaime; Labrador-Espinosa, Miguel A; Leonard, Hampton L; Lesage, Suzanne; Lewis, Patrick; Lopez-Sendon, Jose Luis; Lovering, Ruth; Lubbe, Steven; Lungu, Codrin; Macias, Daniel; Majamaa, Kari; Manzoni, Claudia; Marín, Juan; Marinus, Johan; Marti, Maria Jose; Martinez, Maria; Martínez Torres, Irene; Martínez-Castrillo, Juan Carlos; Mata, Marina; Mencacci, Niccolo E; Méndez-del-Barrio, Carlota; Middlehurst, Ben; Mínguez, Adolfo; Mir, Pablo; Mok, Kin Y; Morris, Huw R; Muñoz, Esteban; Nalls, Mike A; Narendra, Derek; Noyce, Alastair J; Ojo, Oluwadamilola O; Okubadejo, Njideka U; Pagola, Ana Gorostidi; Pastor, Pau; Perez Errazquin, Francisco; Periñán-Tocino, Teresa; Pihlstrom, Lasse; Plun-Favreau, Helene; Quinn, John; R'Bibo, Lea; Reed, Xylena; Rezola, Elisabet Mondragon; Rizig, Mie; Rizzu, Patrizia; Robak, Laurie; Rodriguez, Antonio Sanchez; Rouleau, Guy A; Ruiz-Martínez, Javier; Ruz, Clara; Ryten, Mina; Sadykova, Dinara; Scholz, Sonja W; Schreglmann, Sebastian; Schulte, Claudia; Sharma, Manu; Shashkin, Chingiz; Shulman, Joshua M; Sierra, María; Siitonen, Ari; Simón-Sánchez, Javier; Singleton, Andrew B; Suarez-Sanmartin, Esther; Taba, Pille; Tabernero, Cesar; Tan, Manuela X; Tartari, Juan Pablo; Tejera-Parrado, Cristina; Toft, Mathias; Tolosa, Eduard; Trabzuni, Daniah; Valldeoriola, Francesc; van Hilten, Jacobus J; Van Keuren-Jensen, Kendall; Vargas-González, Laura; Vela, Lydia; Vives, Francisco; Williams, Nigel; Wood, Nicholas W; Zharkinbekova, Nazira; Zharmukhanov, Zharkyn; Zholdybayeva, Elena; Zimprich, Alexander; Ylikotila, Pauli; Shulman, Lisa M.; von Coelln, Rainer; Reich, Stephen; Savitt, Joseph; Agee, Michelle; Alipanahi, Babak; Auton, Adam; Bell, Robert K.; Bryc, Katarzyna; Elson, Sarah L.; Fontanillas, Pierre; Furlotte, Nicholas A.; Huber, Karen E.; Hicks, Barry; Jewett, Ethan M.; Jiang, Yunxuan; Kleinman, Aaron; Lin, Keng-Han; Litterman, Nadia K.; McCreight, Jennifer C.; McIntyre, Matthew H.; McManus, Kimberly F.; Mountain, Joanna L.; Noblin, Elizabeth S.; Northover, Carrie A.M.; Pitts, Steven J.; Poznik, G. David; Sathirapongsasuti, J. Fah; Shelton, Janie F.; Shringarpure, Suyash; Tian, Chao; Tung, Joyce; Vacic, Vladimir; Wang, Xin; Wilson, Catherine H.; Anderson, Tim; Bentley, Steven; Dalrymple-Alford, John; Fowdar, Javed; Gratten, Jacob; Halliday, Glenda; Henders, Anjali K.; Hickie, Ian; Kassam, Irfahan; Kennedy, Martin; Kwok, John; Lewis, Simon; Mellick, George; Montgomery, Grant; Pearson, John; Pitcher, Toni; Sidorenko, Julia; Silburn, Peter A.; Vallerga, Costanza L.; Visscher, Peter M.; Wallace, Leanne; Wray, Naomi R.; Xue, Angli; Yang, Jian; Zhang, Futao; Vallerga, Costanza L ; Heilbron, Karl ; Chang, Diana ; Tan, Manuela; Young, Emily; Pihlstrøm, Lasse; Leonard, Hampton; Botia, Juan A; Jankovic, Joseph; Shulman, Lisa M; Sutherland, Margaret; Tienari, Pentti; Andreassen, Ole A; Bangale, Tushar; Hinds, David A; Hardy, John A; Visscher, Peter M; Graham, Robert R
In The Lancet Neurology December 2019 18(12):1091-1102
Academic Journal
Guelfi, Sebastian; D'Sa, Karishma; Botía, Juan A; Vandrovcova, Jana; Reynolds, Regina H; Zhang, David; Trabzuni, Daniah; Collado-Torres, Leonardo; Thomason, Andrew; Quijada Leyton, Pedro; Gagliano Taliun, Sarah A; Nalls, Mike A; International Parkinson’s Disease Genomics Consortium (IPDGC); UK Brain Expression Consortium (UKBEC); Small, Kerrin S; Smith, Colin; Ramasamy, Adaikalavan; Hardy, John; Weale, Michael E; Ryten, Mina
Nature communications. 11(1)
Academic Journal
Nalls, Mike A; Blauwendraat, Cornelis; Vallerga, Costanza L; Heilbron, Karl; Bandres-Ciga, Sara; Chang, Diana; Tan, Manuela; Kia, Demis A; Noyce, Alastair J; Xue, Angli; Bras, Jose; Young, Emily; von Coelln, Rainer; Simón-Sánchez, Javier; Schulte, Claudia; Sharma, Manu; Krohn, Lynne; Pihlstrøm, Lasse; Siitonen, Ari; Iwaki, Hirotaka; Leonard, Hampton; Faghri, Faraz; Gibbs, J Raphael; Hernandez, Dena G; Scholz, Sonja W; Botia, Juan A; Martinez, Maria; Corvol, Jean-Christophe; Lesage, Suzanne; Jankovic, Joseph; Shulman, Lisa M; Sutherland, Margaret; Tienari, Pentti; Majamaa, Kari; Toft, Mathias; Andreassen, Ole A; Bangale, Tushar; Brice, Alexis; Yang, Jian; Gan-Or, Ziv; Gasser, Thomas; Heutink, Peter; Shulman, Joshua M; Wood, Nicholas W; Hinds, David A; Hardy, John A; Morris, Huw R; Gratten, Jacob; Visscher, Peter M; Graham, Robert R; Singleton, Andrew B; Team, 23andMe Research; Consortium, System Genomics of Parkinson's Disease; Consortium, International Parkinson's Disease Genomics; Adarmes-Gómez, Astrid D; Aguilar, Miquel; Aitkulova, Akbota; Akhmetzhanov, Vadim; Alcalay, Roy N; Alvarez, Ignacio; Alvarez, Victoria; Barrero, Francisco Javier; Yarza, Jesús Alberto Bergareche; Bernal-Bernal, Inmaculada; Billingsley, Kimberley; Blazquez, Marta; Bonilla-Toribio, Marta; Botía, Juan A; Boungiorno, María Teresa; Brockmann, Kathrin; Bubb, Vivien; Buiza-Rueda, Dolores; Cámara, Ana; Carrillo, Fátima; Carrión-Claro, Mario; Cerdan, Debora; Chelban, Viorica; Clarimón, Jordi; Clarke, Carl; Compta, Yaroslau; Cookson, Mark R; Craig, David W; Danjou, Fabrice; Diez-Fairen, Monica; Dols-Icardo, Oriol; Duarte, Jacinto; Duran, Raquel; Escamilla-Sevilla, Francisco; Escott-Price, Valentina; Ezquerra, Mario; Feliz, Cici; Fernández, Manel; Fernández-Santiago, Rubén; Finkbeiner, Steven
The Lancet Neurology. 18(12)
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
Academic Journal
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; Ryten, Mina; Koks, Sulev
npj Parkinson's Disease. 5(1)
Academic Journal
García-Ruiz, Sonia; Gustavsson, Emil K; Zhang, David; Reynolds, Regina H; Chen, Zhongbo; Fairbrother-Browne, Aine; Gil-Martínez, Ana Luisa; Botia, Juan A; Collado-Torres, Leonardo; Ryten, Mina
Nucleic Acids Research; 1/6/2023, Vol. 51 Issue D1, pD167-D178, 12p
Academic Journal
Magusali, Naciye; Graham, Andrew C; Piers, Thomas M; Panichnantakul, Pantila; Yaman, Umran; Shoai, Maryam; Reynolds, Regina H; Botia, Juan A; Brookes, Keeley J; Guetta-Baranes, Tamar; Bellou, Eftychia; Bayram, Sevinc; Sokolova, Dimitra; Ryten, Mina; Frigerio, Carlo Sala; Escott-Price, Valentina; Morgan, Kevin; Pocock, Jennifer M; Hardy, John; Salih, Dervis A
Academic Journal
Sánchez, Juan A; Gil-Martinez, Ana L; Cisterna, Alejandro; García-Ruíz, Sonia; Gómez-Pascual, Alicia; Reynolds, Regina H; Nalls, Mike; Hardy, John; Ryten, Mina; Botía, Juan A
Academic Journal
Mencacci, Niccolò E; Reynolds, Regina; Ruiz, Sonia Garcia; Vandrovcova, Jana; Forabosco, Paola; Sánchez-Ferrer, Alvaro; Volpato, Viola; Consortium, UK Brain Expression; Consortium, International Parkinson's Disease Genomics; Weale, Michael E; Bhatia, Kailash P; Webber, Caleb; Hardy, John; Botía, Juan A; Ryten, Mina; UK Brain Expression Consortium (CORPORATE AUTHOR); International Parkinson’s Disease Genomics Consortium (CORPORATE AUTHOR)
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Academic Journal
Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; Zorzi, Rita De; Payne, Katelyn; Henderson, Lindsay B; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Group, SYNAPS Study; Walsh, Laurence
Academic Journal
Whelan, Christopher D; Altmann, Andre; Botía, Juan A; Jahanshad, Neda; Hibar, Derrek P; Absil, Julie; Alhusaini, Saud; Alvim, Marina K M; Auvinen, Pia; Bartolini, Emanuele; Bergo, Felipe P G; Bernardes, Tauana; Blackmon, Karen; Braga, Barbara; Caligiuri, Maria Eugenia; Calvo, Anna; Carr, Sarah J; Chen, Jian; Chen, Shuai; Cherubini, Andrea; David, Philippe; Domin, Martin; Foley, Sonya; França, Wendy; Haaker, Gerrit; Isaev, Dmitry; Keller, Simon S; Kotikalapudi, Raviteja; Kowalczyk, Magdalena A; Kuzniecky, Ruben; Langner, Soenke; Lenge, Matteo; Leyden, Kelly M; Liu, Min; Loi, Richard Q; Martin, Pascal; Mascalchi, Mario; Morita, Marcia E; Pariente, Jose C; Rodríguez-Cruces, Raul; Rummel, Christian; Saavalainen, Taavi; Semmelroch, Mira K; Severino, Mariasavina; Thomas, Rhys H; Tondelli, Manuela; Tortora, Domenico; Vaudano, Anna Elisabetta; Vivash, Lucy; von Podewils, Felix; Wagner, Jan; Weber, Bernd; Yao, Yi; Yasuda, Clarissa L; Zhang, Guohao; Bargalló, Nuria; Bender, Benjamin; Bernasconi, Neda; Bernasconi, Andrea; Bernhardt, Boris C; Blümcke, Ingmar; Carlson, Chad; Cavalleri, Gianpiero L; Cendes, Fernando; Concha, Luis; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Doherty, Colin P; Focke, Niels K; Gambardella, Antonio; Guerrini, Renzo; Hamandi, Khalid; Jackson, Graeme D; Kälviäinen, Reetta; Kochunov, Peter; Kwan, Patrick; Labate, Angelo; McDonald, Carrie R; Meletti, Stefano; OʼBrien, Terence J; Ourselin, Sebastien; Richardson, Mark P; Striano, Pasquale; Thesen, Thomas; Wiest, Roland; Zhang, Junsong; Vezzani, Annamaria; Ryten, Mina; Thompson, Paul M; Sisodiya, Sanjay M
Brain. Feb 01, 2018 141(2):391-408
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[AR] Botía, Juan A
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