arrow
返回
J

Juan M. Pascual

weill cornell medicine

43H指数
312论文数
8.0K被引数
收录论文 70
发表时间
err分享
err收藏
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresCRNKL1剪接体因子的复发性新发变异与严重小头畸形及伴癫痫的脑桥小脑发育不全相关
err2025-06-18
err0
PREAI
errSankalita Ray Das; Rosie Sullivan; Mischa S.G. Ruegg; Julia Horsfield; Jordan Doran; Gemma Poke; Nathalie de Vries; Sarah Duerinckx; Damien Lederer; Muzhirah Haniffa; Wee-Teik Keng; Gaik-Siew Ch’ng; David A. Parry; Andrew P. Jackson; Masamune Sakamoto; Naomichi Matsumoto; Noriko Miyake; Shin Nabatame; Hidetoshi Taniguchi; Emma Wakeling; Katrin Õunap; Pilvi Ilves; Ghayda Mirzaa; Andrew Timms; Emily Pao; Kimberly A. Aldinger; William Dobyns; Axel Bohring; Beate Behre; Daniel G. Calame; James R. Lupski; Juan M. Pascual; Marc Abramowicz; Gregory Gimenez; Louise S. Bicknell
err分享
err收藏
BRAIN LESIONS IN A TEEN WITH NEWLY DIAGNOSED T-CELL ALL AND SARS-COV-2 INFECTION
err2024-11-11
err0
PREAI
errAspromonte, Salvatore; Ehidom, Clinton; Khan, Shama; Perez, Julio Arevalo; Pascual, Juan; Greenfield, Jeffrey; Hohl, Tobias; Haque, Sofia; Khakoo, Yasmin; Trippett, Tanya
err分享
err收藏
err分享
err收藏
Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models在脆性X综合征模型中,小脑对自闭症相关行为的贡献
err2023-12-01
err7
errOAAI
errGibson, Jennifer M.; Vazquez, Anthony Hernandez; Yamashiro, Kunihiko; Jakkamsetti, Vikram; Ren, Chongyu; Lei, Katherine; Dentel, Brianne; Pascual, Juan M.; Tsai, Peter T.
err分享
err收藏
Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology
err2023-11-01
err1
PREAI
errPascual, Juan M.; Jakkamsetti, Vikram; Malaga, Ignacio; Noble, Denis
err分享
err收藏
Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations
err2023-09-27
err1
errOAAI
errSolis, Elysandra M.; Good, Levi B.; Vazquez, Rafael Granja; Patnaik, Sourav; Hernandez-Reynoso, Ana G.; Ma, Qian; Angulo, Gustavo; Dobariya, Aksharkumar; Cogan, Stuart F.; Pancrazio, Joseph J.; Pascual, Juan M.; Jakkamsetti, Vikram
err分享
err收藏
Maintenance of pig brain function under extracorporeal pulsatile circulatory control (EPCC)
err2023-08-25
err1
errOAAI
errShariff, Muhammed; Dobariya, Aksharkumar; Albaghdadi, Obada; Awkal, Jacob; Moussa, Hadi; Reyes, Gabriel; Syed, Mansur; Hart, Robert; Longfellow, Cameron; Douglass, Debra; El Ahmadieh, Tarek Y.; Good, Levi B.; Jakkamsetti, Vikram; Kathote, Gauri; Angulo, Gus; Ma, Qian; Brown, Ronnie; Dunbar, Misha; Shelton, John M.; Evers, Bret M.; Patnaik, Sourav; Hoffmann, Ulrike; Hackmann, Amy E.; Mickey, Bruce; Peltz, Matthias; Jessen, Michael E.; Pascual, Juan M.
err分享
err收藏
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy
err2023-07-10
err5
errOAAI
errMalaga, Ignacio; Avila, Adrian; Primeaux, Sharon; Park, Jason Y.; Pascual, Juan M.
err分享
err收藏
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)
err2023-06-02
err2
errOAAI
errAvila, Adrian; Malaga, Ignacio; Sirsi, Deepa; Kayani, Saima; Primeaux, Sharon; Kathote, Gauri A.; Jakkamsetti, Vikram; Kallem, Raja Reddy; Putnam, William C.; Park, Jason Y.; Shinnar, Shlomo; Pascual, Juan M.
err分享
err收藏
Machine-learning Assisted Differentiation Between Physiological Oscillation Epochs and Muscle or Epileptiform activity in EEGs
err2023-04-25
err0
PREAI
errJakkamsetti, Vikram; Kathote, Gauri; Avila, Adrian; Primeaux, Sharon; Dobariya, Aksharkumar; Malaga-Dieguez, Ignacio; Pascual, Juan
err分享
err收藏
Identification of Glucose Transport Modulators In Vitro and Method for Their Deep Learning Neural Network Behavioral Evaluation in Glucose Transporter 1-Deficient Mice
err2023-03-01
err5
errOAAI
errKathote, Gauri; Ma, Qian; Angulo, Gustavo; Chen, Hong; Jakkamsetti, Vikram; Dobariya, Aksharkumar; Good, Levi B.; Posner, Bruce; Park, Jason Y.; Pascual, Juan M.
err分享
err收藏
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)
err2023-03-01
err1
errOAAI
errMalaga, Ignacio; Avila, Adrian; Primeaux, Sharon; Kallem, Raja Reddy; Roe, Charles R.; Putnam, William C.; Park, Jason Y.; Shinnar, Shlomo; Ahn, Chul; Pascual, Juan M.
err分享
err收藏
Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D)
err2022-12-15
err11
errOAAI
errWang, Richard C.; Lee, Eunice E.; De Simone, Nicole; Kathote, Gauri; Primeaux, Sharon; Avila, Adrian; Yu, Dong-Min; Johnson, Mark; Good, Levi B.; Jakkamsetti, Vikram; Sarode, Ravi; Holland, Alice Ann; Pascual, Juan M.
err分享
err收藏
Recording of pig neuronal activity in the comparative context of the awake human brain (vol 12, 15503, 2022)
err2022-11-29
err0
errOAAI
errDobariya, Aksharkumar; El Ahmadieh, Tarek Y.; Good, Levi B.; Hernandez-Reynoso, Ana G.; Jakkamsetti, Vikram; Brown, Ronnie; Dunbar, Misha; Ding, Kan; Luna, Jesus; Kallem, Raja Reddy; Putnam, William C.; Shelton, John M.; Evers, Bret M.; Azami, Amirhossein; Geramifard, Negar; Cogan, Stuart F.; Mickey, Bruce; Pascual, Juan M.
err分享
err收藏
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency
err2022-10-05
err14
errOAAI
errRajasekaran, Karthik; Ma, Qian; Good, Levi B.; Kathote, Gauri; Jakkamsetti, Vikram; Liu, Peiying; Avila, Adrian; Primeaux, Sharon; Alva, Julio Enciso; Markussen, Kia H.; Marin-Valencia, Isaac; Sirsi, Deepa; Hacker, Peter M. S.; Gentry, Matthew S.; Su, Jianzhong; Lu, Hanzhang; Pascual, Juan M.
err分享
err收藏
Recording of pig neuronal activity in the comparative context of the awake human brain
err2022-09-15
err9
errOAAI
errDobariya, Aksharkumar; El Ahmadieh, Tarek Y.; Good, Levi B.; Hernandez-Reynoso, Ana G.; Jakkamsetti, Vikram; Brown, Ronnie; Dunbar, Misha; Ding, Kan; Luna, Jesus; Kallem, Raja Reddy; Putnam, William C.; Shelton, John M.; Evers, Bret M.; Azami, Amirhossein; Geramifard, Negar; Cogan, Stuart F.; Mickey, Bruce; Pascual, Juan M.
err分享
err收藏
Elucidating the Role of Glycogen in Glucose Transporter 1 Deficiency Syndrome
err2022-05-13
err0
PREAI
errWilliams, Meredith; Markussen, Kia H.; Webb, Madison; Mestas, Annette; Pascual, Juan; Gentry, Matthew S.
err分享
err收藏
Mitochondrial disease manifestations in relation to transcriptome location and function
err2022-01-01
err2
errOAAI
errJakkamsetti, Vikram; Balasubramaniam, Seema; Grover, Nidhi; Pascual, Juan M.
err分享
err收藏