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科言猫学术研究的AI总结
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J

Juan A. Botía

University of Murcia
H指数:39
被引数:1.0万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

n末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化

NATURE COMMUNICATIONS
IF15.7
2024-03-137
OAAI
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry
Artificial intelligence for dementia genetics and omics
ALZHEIMERS & DEMENTIA
IF11.1
2023-08-2210
OA
Bettencourt, Conceicao; Skene, Nathan; Bandres-Ciga, Sara; Anderson, Emma M.; Winchester, Laura F.; Foote, Isabelle; Schwartzentruber, Jeremy A.; Botia, Juan; Nalls, Mike; Singleton, Andrew M.; Schilder, Brian; Humphrey, Jack J.; Marzi, Sarah E.; Toomey, Christina; Al Kleifat, Ahmad L.; Harshfield, Eric; Garfield, Victoria; Sandor, Cynthia; Keat, Samuel; Tamburin, Stefano; Frigerio, Carlo Sala; Lourida, Ilianna; Ranson, Janice M.; Llewellyn, David
Multi-modality machine learning predicting Parkinson's disease
NPJ PARKINSONS DISEASE
IF8.2
2022-04-0141
OAAI
Makarious, Mary B.; Leonard, Hampton L.; Vitale, Dan; Iwaki, Hirotaka; Sargent, Lana; Dadu, Anant; Violich, Ivo; Hutchins, Elizabeth; Saffo, David; Bandres-Ciga, Sara; Kim, Jonggeol Jeff; Song, Yeajin; Maleknia, Melina; Bookman, Matt; Nojopranoto, Willy; Campbell, Roy H.; Hashemi, Sayed Hadi; Botia, Juan A.; Carter, John F.; Craig, David W.; Van Keuren-Jensen, Kendall; Morris, Huw R.; Hardy, John A.; Blauwendraat, Cornelis; Singleton, Andrew B.; Faghri, Faraz; Nalls, Mike A.
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene
BRAIN
IF11.7
2021-10-0762
OAAI
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.
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

系统级分析强调小胶质细胞激活是常见癫痫的修饰因素

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2021-09-0527
OAAI
Altmann, Andre; Ryten, Mina; Di Nunzio, Martina; Ravizza, Teresa; Tolomeo, Daniele; Reynolds, Regina H.; Somani, Alyma; Bacigaluppi, Marco; Iori, Valentina; Micotti, Edoardo; Di Sapia, Rossella; Cerovic, Milica; Palma, Eleonora; Ruffolo, Gabriele; Botia, Juan A.; Absil, Julie; Alhusaini, Saud; Alvim, Marina K. M.; Auvinen, Pia; Bargallo, Nuria; Bartolini, Emanuele; Bender, Benjamin; Bergo, Felipe P. G.; Bernardes, Tauana; Bernasconi, Andrea; Bernasconi, Neda; Bernhardt, Boris C.; Blackmon, Karen; Braga, Barbara; Caligiuri, Maria Eugenia; Calvo, Anna; Carlson, Chad; Carr, Sarah J. A.; Cavalleri, Gianpiero L.; Cendes, Fernando; Chen, Jian; Chen, Shuai; Cherubini, Andrea; Concha, Luis; David, Philippe; Delanty, Norman; Depondt, Chantal; Devinsky, Orrin; Doherty, Colin P.; Domin, Martin; Focke, Niels K.; Foley, Sonya; Franca, Wendy; Gambardella, Antonio; Guerrini, Renzo; Hamandi, Khalid; Hibar, Derrek P.; Isaev, Dmitry; Jackson, Graeme D.; Jahanshad, Neda; Kalviainen, Reetta; Keller, Simon S.; Kochunov, Peter; Kotikalapudi, Raviteja; Kowalczyk, Magdalena A.; Kuzniecky, Ruben; Kwan, Patrick; Labate, Angelo; Langner, Soenke; Lenge, Matteo; Liu, Min; Martin, Pascal; Mascalchi, Mario; Meletti, Stefano; Morita-Sherman, Marcia E.; O'Brien, Terence J.; Pariente, Jose C.; Richardson, Mark P.; Rodriguez-Cruces, Raul; Rummel, Christian; Saavalainen, Taavi; Semmelroch, Mira K.; Severino, Mariasavina; Striano, Pasquale; Thesen, Thomas; Thomas, Rhys H.; Tondelli, Manuela; Tortora, Domenico; Vaudano, Anna Elisabetta; Vivash, Lucy; Podewils, Felix; Wagner, Jan; Weber, Bernd; Wiest, Roland; Yasuda, Clarissa L.; Zhang, Guohao; Zhang, Junsong; Leu, Costin; Avbersek, Andreja; Thom, Maria; Whelan, Christopher D.; Thompson, Paul; McDonald, Carrie R.; Vezzani, Annamaria; Sisodiya, Sanjay M.

研究方向

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M
Mina Ryten
H 指数:72论文数:331被引数:3.0万
J
John Hardy
H 指数:207论文数:1,883被引数:23.8万
J
Jana Vandrovcová
H 指数:45论文数:167被引数:9,317
R
Regina H. Reynolds
H 指数:25论文数:110被引数:3,446
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.4万
S
Sonia García-Ruiz
H 指数:13论文数:59被引数:1,066
S
Stéphanie Efthymiou
H 指数:34论文数:238被引数:4,486
C
Cornelis Blauwendraat
H 指数:61论文数:377被引数:1.5万
A
Andrew Singleton
H 指数:131论文数:800被引数:8.7万
S
Sebastian Guelfi
H 指数:22论文数:53被引数:6,854