Antonio V. Delgado‐Escueta

University of California System

58H指数

530论文数

1.3W被引数

收录论文 44

发表时间

Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy

FRONTIERS IN CELLULAR NEUROSCIENCE

IF4

2019-09-27

OAAI

Gilsoul, Maxime; Grisar, Thierry; Delgado-Escueta, Antonio V.; de Nijs, Laurence; Lakaye, Bernard

Importin-8 Modulates Division of Apical Progenitors, Dendritogenesis and Tangential Migration During Development of Mouse Cortex

FRONTIERS IN MOLECULAR NEUROSCIENCE

IF3.8

2018-07-10

OAAI

Nganou, Gerry; Silva, Carla G.; Gladwyn-Ng, Ivan; Engel, Dominique; Coumans, Bernard; Delgado-Escueta, Antonio V.; Tanaka, Miyabi; Nguyen, Laurent; Grisar, Thierry; de Nijs, Laurence; Lakaye, Bernard

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2018-03-15

OAAI

Bailey, J. N.; de Nijs, L.; Bai, D.; Suzuki, T.; Miyamoto, H.; Tanaka, M.; Patterson, C.; Lin, Y. -C.; Medina, M. T.; Alonso, M. E.; Serratosa, J. M.; Duron, R. M.; Nguyen, V. H.; Wight, J. E.; Martinez-Juarez, I. E.; Ochoa, A.; Jara-Prado, A.; Guilhoto, L.; Molina, Y.; Yacubian, E. M.; Lopez-Ruiz, M.; Inoue, Y.; Kaneko, S.; Hirose, S.; Osawa, M.; Oguni, H.; Fujimoto, S.; Grisar, T. M.; Stern, J. M.; Yamakawa, K.; Lakaye, B.; Delgado-Escueta, A. V.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

GENETICS IN MEDICINE

IF6.2

2017-02-01

OAAI

Bailey, Julia N.; Patterson, Christopher; de Nijs, Laurence; Duron, Reyna M.; Viet-Huong Nguyen; Tanaka, Miyabi; Medina, Marco T.; Jara-Prado, Aurelio; Martinez-Juarez, Iris E.; Ochoa, Adriana; Molina, Yolli; Suzuki, Toshimitsu; Alonso, Maria E.; Wight, Jenny E.; Lin, Yu-Chen; Guilhoto, Laura; Targas Yacubian, Elza Marcia; Machado-Salas, Jesus; Daga, Andrea; Yamakawa, Kazuhiro; Grisar, Thierry M.; Lakaye, Bernard; Delgado-Escueta, Antonio V.

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

HUMAN MOLECULAR GENETICS

IF3.2

2012-08-27

OAAI

de Nijs, Laurence; Wolkoff, Nathalie; Coumans, Bernard; Delgado-Escueta, Antonio V.; Grisar, Thierry; Lakaye, Bernard

Effects on promoter activity of common SNPs in 5′ region of GABRB3 exon 1A

EPILEPSIA

IF6.6

2012-07-05

OAAI

Tanaka, Miyabi; Bailey, Julia N.; Bai, Dongsheng; Ishikawa-Brush, Yumiko; Delgado-Escueta, Antonio V.; Olsen, Richard W.

Lafora progressive myoclonus epilepsy Glycogen storage disease vs neurodegenerative disease

NEUROLOGY

IF8.5

2012-07-03

PREAI

Delgado-Escueta, Antonio V.

Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila

HUMAN MOLECULAR GENETICS

IF3.2

2011-08-11

OAAI

Rossetto, Maria Giovanna; Zanarella, Erica; Orso, Genny; Scorzeto, Michele; Megighian, Aram; Kumar, Vimlesh; Delgado-Escueta, Antonio V.; Daga, Andrea

Reduction in rate of epilepsy from neurocysticercosis by community interventions: The Salama, Honduras Study

EPILEPSIA

IF6.6

2011-01-28

PREAI

Medina, Marco T.; Aguilar-Estrada, Rafael L.; Alvarez, Allan; Duron, Reyna M.; Martinez, Lizandro; Dubon, Sofia; Estrada, Ana L.; Zuniga, Concepcion; Cartagena, Dora; Thompson, Arnold; Ramirez, Eunice; Banegas, Lenin; Osorio, Juan R.; Delgado-Escueta, Antonio V.; Collins, Julianne S.; Holden, Kenton R.

Myoclonin1/EFHC1 disease mechanisms in JME

EPILEPSIA

IF6.6

2010-12-15

OAAI

Grisar, Thierry; LoTurco, Joseph; Daga, Andrea; Delgado-Escueta, Antonio V.

Jasper's Basic Mechanisms of the Epilepsies Workshop

EPILEPSIA

IF6.6

2010-12-15

OAAI

Noebels, Jeffrey L.; Avoli, Massimo; Rogawski, Michael; Olsen, Richard; Delgado-Escueta, Antonio V.

GABRB3, epilepsy, and neurodevelopment

EPILEPSIA

IF6.6

2010-12-15

OAAI

Tanaka, Miyabi; DeLorey, Timothy M.; Delgado-Escueta, Antonio V.; Olsen, Richard W.

Workshop Report: Developing an international collaborative research network in neurocysticercosis and epilepsy

EPILEPSIA

IF6.6

2009-05-07

OAAI

Burneo, Jorge G.; Del Brutto, Oscar; Delgado-Escueta, Antonio V.; Gonzalez, Armando E.; Medina, Marco T.; Montano, Silvia M.; Moyano, Luz M.; Nash, Theodore; Roman, Gustavo; Singh, Gagandeep; White, A. Clinton, Jr.; Wiebe, Samuel; Garcia, Hector H.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy

EPILEPSIA

IF6.6

2009-05-07

OAAI

Bai, Dongsheng; Bailey, Julia N.; Duron, Reyna M.; Alonso, Maria E.; Medina, Marco T.; Martinez-Juarez, Iris E.; Suzuki, Toshimitsu; Machado-Salas, Jesus; Ramos-Ramirez, Ricardo; Tanaka, Miyabi; Ortega, Ramon H. Castro; Lopez-Ruiz, Minerva; Rasmussen, Astrid; Ochoa, Adriana; Jara-Prado, Aurelio; Yamakawa, Kazuhiro; Delgado-Escueta, Antonio V.

Immunoliposome-based, non-viral gene delivery in a knock-out mouse model of Lafora inclusion body disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2009-02-01

PREAI

Cornford, Eain; Hyman, Shigeyo; Cornford, Marcia; Suzuki, Toshimitsu; Yamagata, Tetsushi; Yamakawa, Kazuhiro; Rhee, Jennifer; Delgado-Escueta, Antonio

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

HUMAN MOLECULAR GENETICS

IF3.2

2009-01-15

OAAI

Suzuki, Toshimitsu; Miyamoto, Hiroyuki; Nakahari, Takashi; Inoue, Ikuyo; Suemoto, Takahiro; Jiang, Bin; Hirota, Yuki; Itohara, Shigeyoshi; Saido, Takaomi C.; Tsumoto, Tadaharu; Sawamoto, Kazunobu; Hensch, Takao K.; Delgado-Escueta, Antonio V.; Yamakawa, Kazuhiro

Debate: Does genetic information in humans help us treat patients?

EPILEPSIA

IF6.6

2008-12-05

PREAI

Delgado-Escueta, Antonio V.; Bourgeois, Blaise F. D.

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2008-06-01

163

OAAI

Tanaka, Miyabi; Olsen, Richard W.; Medina, Marco T.; Schwartz, Emily; Alonso, Maria Elisa; Duron, Reyna M.; Castro-Ortega, Ramon; Martinez-Juarez, Iris E.; Pascual-Castroviejo, Ignacio; Machado-Salas, Jesus; Silva, Rene; Bailey, Julia N.; Bai, Dongsheng; Ochoa, Adriana; Jara-Prado, Aurelio; Pineda, Gregorio; Macdonald, Robert L.; Delgado-Escueta, Antonio V.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

NEUROLOGY

IF8.5

2008-05-27

PREAI

Medina, M. T.; Suzuki, T.; Alonso, M. E.; Duron, R. M.; Martinez-Juarez, I. E.; Bailey, J. N.; Bai, D.; Inoue, Y.; Yoshimura, I.; Kaneko, S.; Montoya, M. C.; Ochoa, A.; Prado, A. Jara; Tanaka, M.; Machado-Salas, J.; Fujimoto, S.; Ito, M.; Hamano, S.; Sugita, K.; Ueda, Y.; Osawa, M.; Oguni, H.; Rubio-Donnadieu, F.; Yamakawa, K.; Delgado-Escueta, A. V.

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2007-12-04

180

OAAI

Tagliabracci, Vincent S.; Turnbull, Julie; Wang, Wei; Girard, Jean-Marie; Zhao, Xiaochu; Skurat, Alexander V.; Delgado-Escueta, Antonio V.; Minassian, Berge A.; DePaoli-Roach, Anna A.; Roach, Peter J.

研究方向