Research output per year
Research output per year
- 1 - 50 out of 106 results
Search results
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2024
Genetic influences on motor learning and performance and superperforming mutants revealed by random mutational survey of the mouse genome
Jakkamsetti, V., Ma, Q., Angulo, G., Scudder, W., Beutler, B. & Pascual, J. M., 2024, (Accepted/In press) In: Journal of Physiology.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy
Málaga, I., Avila, A., Primeaux, S., Park, J. Y. & Pascual, J. M., Sep 2023, In: Epilepsia. 64, 9, p. e184-e189Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models
Gibson, J. M., Vazquez, A. H., Yamashiro, K., Jakkamsetti, V., Ren, C., Lei, K., Dentel, B., Pascual, J. M. & Tsai, P. T., Dec 26 2023, In: Cell Reports. 42, 12, 113533.Research output: Contribution to journal › Article › peer-review
Open Access -
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)
Avila, A., Málaga, I., Sirsi, D., Kayani, S., Primeaux, S., Kathote, G. A., Jakkamsetti, V., Kallem, R. R., Putnam, W. C., Park, J. Y., Shinnar, S. & Pascual, J. M., Dec 2023, In: Scientific reports. 13, 1, 8951.Research output: Contribution to journal › Article › peer-review
Open Access -
Identification of Glucose Transport Modulators In Vitro and Method for Their Deep Learning Neural Network Behavioral Evaluation in Glucose Transporter 1-Deficient MiceS
Kathote, G., Ma, Q., Angulo, G., Chen, H., Jakkamsetti, V., Dobariya, A., Good, L. B., Posner, B., Park, J. Y. & Pascual, J. M., Mar 1 2023, In: Journal of Pharmacology and Experimental Therapeutics. 384, 3, p. 393-405 13 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations
Solis, E. M., Good, L. B., Vázquez, R. G., Patnaik, S., Hernandez-Reynoso, A. G., Ma, Q., Angulo, G., Dobariya, A., Cogan, S. F., Pancrazio, J. J., Pascual, J. M. & Jakkamsetti, V., 2023, In: Frontiers in Neuroscience. 17, 1191492.Research output: Contribution to journal › Article › peer-review
Open Access -
Maintenance of pig brain function under extracorporeal pulsatile circulatory control (EPCC)
Shariff, M., Dobariya, A., Albaghdadi, O., Awkal, J., Moussa, H., Reyes, G., Syed, M., Hart, R., Longfellow, C., Douglass, D., El Ahmadieh, T. Y., Good, L. B., Jakkamsetti, V., Kathote, G., Angulo, G., Ma, Q., Brown, R., Dunbar, M., Shelton, J. M., Evers, B. M., & 7 others, Dec 2023, In: Scientific reports. 13, 1, 13942.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D)
Málaga, I., Avila, A., Primeaux, S., Kallem, R. R., Roe, C. R., Putnam, W. C., Park, J. Y., Shinnar, S., Ahn, C. & Pascual, J. M., Dec 2023, In: Scientific reports. 13, 1, 3465.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D)
Wang, R. C., Lee, E. E., De Simone, N., Kathote, G., Primeaux, S., Avila, A., Yu, D. M., Johnson, M., Good, L. B., Jakkamsetti, V., Sarode, R., Holland, A. A. & Pascual, J. M., Mar 2023, In: Journal of Cerebral Blood Flow and Metabolism. 43, 3, p. 357-368 12 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity
Barone, I., Gilette, N. M., Hawks-Mayer, H., Handy, J., Zhang, K. J., Chifamba, F. F., Mostafa, E., Johnson-Venkatesh, E. M., Sun, Y., Gibson, J. M., Rotenberg, A., Umemori, H., Tsai, P. T. & Lipton, J. O., 2023, In: Science Advances. 9, 43, adj1010.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
A Critical Period for Development of Cerebellar-Mediated Autism-Relevant Social Behavior
Gibson, J. M., Howland, C. P., Ren, C., Howland, C., Vernino, A. & Tsai, P. T., Mar 30 2022, In: Journal of Neuroscience. 42, 13, p. 2804-2823 20 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations -
A subset of synaptic transmission events is coupled to acetyl coenzyme A production
Jakkamsetti, V., Ma, Q. & Pascual, J. M., Mar 2022, In: Journal of neurophysiology. 127, 3, p. 623-636 14 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model
Dentel, B., Angeles-Perez, L., Ren, C., Jakkamsetti, V., Holley, A. J., Caballero, D., Oh, E., Gibson, J., Pascual, J. M., Huber, K. M., Tu, B. P. & Tsai, P. T., May 20 2022, In: iScience. 25, 5, 104334.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency
Rajasekaran, K., Ma, Q., Good, L. B., Kathote, G., Jakkamsetti, V., Liu, P., Avila, A., Primeaux, S., Alva, J. E., Markussen, K. H., Marin-Valencia, I., Sirsi, D., Hacker, P. M. S., Gentry, M. S., Su, J., Lu, H. & Pascual, J. M., Oct 5 2022, In: Science translational medicine. 14, 665, abn2956.Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations -
Mitochondrial disease manifestations in relation to transcriptome location and function
Jakkamsetti, V., Balasubramaniam, S., Grover, N. & Pascual, J. M., Jan 2022, In: Molecular genetics and metabolism. 135, 1, p. 82-92 11 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Recording of pig neuronal activity in the comparative context of the awake human brain
Dobariya, A., El Ahmadieh, T. Y., Good, L. B., Hernandez-Reynoso, A. G., Jakkamsetti, V., Brown, R., Dunbar, M., Ding, K., Luna, J., Kallem, R. R., Putnam, W. C., Shelton, J. M., Evers, B. M., Azami, A., Geramifard, N., Cogan, S. F., Mickey, B. & Pascual, J. M., Dec 2022, In: Scientific reports. 12, 1, 15503.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
2021
Adaptive Prediction for Social Contexts: The Cerebellar Contribution to Typical and Atypical Social Behaviors
Stoodley, C. J. & Tsai, P. T., Jul 8 2021, In: Annual Review of Neuroscience. 44, p. 475-493 19 p.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
Development and validation of a LC-MS/MS method for quantitation of 3-hydroxypentanoic acid and 3-oxopentanoic acid in human plasma and its application to a clinical study of glucose transporter type I deficiency (G1D) syndrome
Kallem, R. R., Primeaux, S., Avila, A., Pascual, J. M. & Putnam, W. C., Oct 25 2021, In: Journal of Pharmaceutical and Biomedical Analysis. 205, 114335.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Metabolism-based therapies for epilepsy: new directions for future cures
Cervenka, M., Pascual, J. M., Rho, J. M., Thiele, E., Yellen, G., Whittemore, V. & Hartman, A. L., Aug 2021, In: Annals of Clinical and Translational Neurology. 8, 8, p. 1730-1737 8 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Quantification of early learning and movement sub-structure predictive of motor performance
Jakkamsetti, V., Scudder, W., Kathote, G., Ma, Q., Angulo, G., Dobariya, A., Rosenberg, R. N., Beutler, B. & Pascual, J. M., Dec 2021, In: Scientific reports. 11, 1, 14405.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients with Epilepsy
Sorelle, J. A., Pascual, J. M., Gotway, G. & Park, J. Y., Apr 29 2020, In: JAMA Network Open. 3, 4, e203812.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation
Henry, M., Kitchens, J., Pascual, J. M. & Maldonado, R. S., 2020, In: Neurology: Genetics. 6, 4, e472.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group
Klepper, J., Akman, C., Armeno, M., Auvin, S., Cervenka, M., Cross, H. J., De Giorgis, V., Della Marina, A., Engelstad, K., Heussinger, N., Kossoff, E. H., Leen, W. G., Leiendecker, B., Monani, U. R., Oguni, H., Neal, E., Pascual, J. M., Pearson, T. S., Pons, R., Scheffer, I. E., & 4 others, Sep 1 2020, In: Epilepsia Open. 5, 3, p. 354-365 12 p.Research output: Contribution to journal › Article › peer-review
Open Access125 Scopus citations -
Regulation of autism-relevant behaviors by cerebellar–prefrontal cortical circuits
Kelly, E., Meng, F., Fujita, H., Morgado, F., Kazemi, Y., Rice, L. C., Ren, C., Escamilla, C. O., Gibson, J. M., Sajadi, S., Pendry, R. J., Tan, T., Ellegood, J., Albert Basson, M., Blakely, R. D., Dindot, S. V., Golzio, C., Hahn, M. K., Katsanis, N., Robins, D. M., & 11 others, Sep 1 2020, In: Nature neuroscience. 23, 9, p. 1102-1110 9 p.Research output: Contribution to journal › Article › peer-review
Open Access125 Scopus citations -
Triheptanoin Mitigates Brain ATP Depletion and Mitochondrial Dysfunction in a Mouse Model of Alzheimer's Disease
Yuan, X., Wang, L., Tandon, N., Sun, H., Tian, J., Du, H., Pascual, J. M., Guo, L. & Reddy, P. H., 2020, In: Journal of Alzheimer's Disease. 78, 1, p. 425-437 13 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
2019
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency
Jakkamsetti, V., Marin-Valencia, I., Ma, Q., Good, L. B., Terrill, T., Rajasekaran, K., Pichumani, K., Khemtong, C., Hooshyar, M. A., Sundarrajan, C., Patel, M. S., Bachoo, R. M., Malloy, C. R. & Pascual, J. M., 2019, In: Science translational medicine. 11, 480, aan0457.Research output: Contribution to journal › Article › peer-review
Open Access44 Scopus citations -
Exosomes in disease: Epigenetic signals from the nervous system to the rest of the organism
Pascual, J. M. & Noble, D., Aug 24 2019, In: Neuroscience letters. 708, p. 134293 1 p.Research output: Contribution to journal › Article › peer-review
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Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans
Ni, M., Solmonson, A., Pan, C., Yang, C., Li, D., Notzon, A., Cai, L., Guevara, G., Zacharias, L. G., Faubert, B., Vu, H. S., Jiang, L., Ko, B., Morales, N. M., Pei, J., Vale, G., Rakheja, D., Grishin, N. V., McDonald, J. G., Gotway, G. K., & 3 others, Apr 30 2019, In: Cell Reports. 27, 5, p. 1376-1386.e6Research output: Contribution to journal › Article › peer-review
Open Access47 Scopus citations -
Legal and ethical implications of defining an optimum means of achieving unconsciousness in assisted dying
Sinmyee, S., Pandit, V. J., Pascual, J. M., Dahan, A., Heidegger, T., Kreienbühl, G., Lubarsky, D. A. & Pandit, J. J., May 2019, In: Anaesthesia. 74, 5, p. 630-637 8 p.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
2018
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs
Meyer, K., Kirchner, M., Uyar, B., Cheng, J. Y., Russo, G., Hernandez-Miranda, L. R., Szymborska, A., Zauber, H., Rudolph, I. M., Willnow, T. E., Akalin, A., Haucke, V., Gerhardt, H., Birchmeier, C., Kühn, R., Krauss, M., Diecke, S., Pascual, J. M. & Selbach, M., Sep 20 2018, In: Cell. 175, 1, p. 239-253.e17Research output: Contribution to journal › Article › peer-review
Open Access85 Scopus citations -
Predicting seizure by modeling synaptic plasticity based on EEG signals - a case study of inherited epilepsy
Zhang, H., Su, J., Wang, Q., Liu, Y., Good, L. & Pascual, J. M., Mar 2018, In: Communications in Nonlinear Science and Numerical Simulation. 56, p. 330-343 14 p.Research output: Contribution to journal › Article › peer-review
Open Access19 Scopus citations -
2017
Age-dependent changes of cerebral copper metabolism in Atp7b −/− knockout mouse model of Wilson’s disease by [64Cu]CuCl2-PET/CT
Xie, F., Xi, Y., Pascual, J. M., Muzik, O. & Peng, F., Jun 1 2017, In: Metabolic Brain Disease. 32, 3, p. 717-726 10 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Scopus citations -
Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice
Stoodley, C. J., D'Mello, A. M., Ellegood, J., Jakkamsetti, V., Liu, P., Nebel, M. B., Gibson, J. M., Kelly, E., Meng, F., Cano, C. A., Pascual, J. M., Mostofsky, S. H., Lerch, J. P. & Tsai, P. T., Dec 1 2017, In: Nature neuroscience. 20, 12, p. 1744-1751 8 p.Research output: Contribution to journal › Article › peer-review
Open Access213 Scopus citations -
Clinical aspects of glucose transporter type 1 deficiency: Information from a global registry
Hao, J., Kelly, D. I., Su, J. & Pascual, J. M., Jun 2017, In: JAMA neurology. 74, 6, p. 727-732 6 p.Research output: Contribution to journal › Article › peer-review
Open Access34 Scopus citations -
Frontotemporal Degeneration in a Child
Terrill, T. & Pascual, J. M., Jul 2017, In: Pediatric Neurology. 72, p. 62-64 3 p.Research output: Contribution to journal › Article › peer-review
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Intramyocellular lipid excess in the mitochondrial disorder MELAS
Golla, S., Ren, J., Malloy, C. R. & Pascual, J. M., Jul 1 2017, In: Neurology: Genetics. 3, 3, e160.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Oxidation of [U-13C]glucose in the human brain at 7T under steady state conditions
Cheshkov, S., Dimitrov, I. E., Jakkamsetti, V., Good, L., Kelly, D., Rajasekaran, K., Deberardinis, R. J., Pascual, J. M., Sherry, A. D. & Malloy, C. R., Dec 2017, In: Magnetic resonance in medicine. 78, 6, p. 2065-2071 7 p.Research output: Contribution to journal › Article › peer-review
Open Access20 Scopus citations -
2016
Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease
Beck, S. J., Guo, L., Phensy, A., Tian, J., Wang, L., Tandon, N., Gauba, E., Lu, L., Pascual, J. M., Kroener, S. & Du, H., May 6 2016, In: Nature communications. 7, 11483.Research output: Contribution to journal › Article › peer-review
Open Access117 Scopus citations -
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Chen, C. A., Bosch, D. G. M., Cho, M. T., Rosenfeld, J. A., Shinawi, M., Lewis, R. A., Mann, J., Jayakar, P., Payne, K., Walsh, L., Moss, T., Schreiber, A., Schoonveld, C., Monaghan, K. G., Elmslie, F., Douglas, G., Boonstra, F. N., Millan, F., Cremers, F. P. M., McKnight, D., & 15 others, Nov 1 2016, In: Genetics in Medicine. 18, 11, p. 1143-1150 8 p.Research output: Contribution to journal › Article › peer-review
Open Access55 Scopus citations -
The life, times and work of Charles R. Roe, M.D
Pascual, J. M., 2016, (Accepted/In press) In: Neuroscience Letters.Research output: Contribution to journal › Article › peer-review
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2015
Acute effect of glucose on cerebral blood flow, blood oxygenation, and oxidative metabolism
Xu, F., Liu, P., Pascual, J. M., Xiao, G., Huang, H. & Lu, H., Feb 1 2015, In: Human Brain Mapping. 36, 2, p. 707-716 10 p.Research output: Contribution to journal › Article › peer-review
Open Access24 Scopus citations -
Type II Cortical Dysplasia in Dominant Frontal Lobe Presenting as Gelastic Epilepsy
Dubey, D., Thodeson, D., Dowling, M., Sirsi, D., Arnold, S. & Said, R., Jul 1 2015, In: Pediatric Neurology. 53, 1, p. 97-98 2 p., 8613.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
2014
Alternating hemiplegia of childhood with a de novo mutation in atp1a3 and changes in SLC2A1 responsive to a ketogenic diet
Ulate-Campos, A., Fons, C., Artuch, R., Castejón, E., Martorell, L., Ozelius, L., Pascual, J. & Campistol, J., Apr 2014, In: Pediatric Neurology. 50, 4, p. 377-379 3 p.Research output: Contribution to journal › Article › peer-review
27 Scopus citations -
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and möbius syndrome
Ali, Z., Xing, C., Anwar, D., Itani, K. M., Weakley, D. R., Gong, X., Pascual, J. M. & Mootha, V., Mar 28 2014, In: Molecular Vision. 20, p. 368-375 8 p.Research output: Contribution to journal › Article › peer-review
11 Scopus citations -
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome
Lee, E. E., Ma, J., Sacharidou, A., Mi, W., Salato, V. K., Nguyen, N., Jiang, Y., Pascual, J. M., North, P. E., Shaul, P. W., Mettlen, M. & Wang, R. C., Nov 24 2014, In: Molecular cell. 58, 5, p. 845-853 9 p.Research output: Contribution to journal › Article › peer-review
97 Scopus citations -
Preface to the Fifth Edition
Rosenberg, R. N. & Pascual, J. M., Nov 13 2014, In: Unknown Journal. p. xxxiii-xxxivResearch output: Contribution to journal › Article › peer-review
8 Scopus citations -
Triheptanoin for glucose transporter type i deficiency (G1D): Modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement
Pascual, J. M., Liu, P., Mao, D., Kelly, D. I., Hernandez, A., Sheng, M., Good, L. B., Ma, Q., Marin-Valencia, I., Zhang, X., Park, J. Y., Hynan, L. S., Stavinoha, P., Roe, C. R. & Lu, H., Oct 1 2014, In: JAMA neurology. 71, 10, p. 1255-1265 11 p.Research output: Contribution to journal › Article › peer-review
Open Access76 Scopus citations -
2013
Different timescales for the neural coding of consonant and vowel sounds
Perez, C. A., Engineer, C. T., Jakkamsetti, V., Carraway, R. S., Perry, M. S. & Kilgard, M. P., Mar 1 2013, In: Cerebral Cortex. 23, 3, p. 670-683 14 p.Research output: Contribution to journal › Article › peer-review
Open Access56 Scopus citations -
Experience-Induced Arc/Arg3.1 Primes CA1 Pyramidal Neurons for Metabotropic Glutamate Receptor-Dependent Long-Term Synaptic Depression
Jakkamsetti, V., Tsai, N. P., Gross, C., Molinaro, G., Collins, K. A., Nicoletti, F., Wang, K., Osten, P., Bassell, G. J., Gibson, J. R. & Huber, K., Oct 2 2013, In: Neuron. 80, 1, p. 72-79 8 p.Research output: Contribution to journal › Article › peer-review
81 Scopus citations -
Heptanoate as a neural fuel: Energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain
Marin-Valencia, I., Good, L. B., Ma, Q., Malloy, C. R. & Pascual, J. M., Feb 2013, In: Journal of Cerebral Blood Flow and Metabolism. 33, 2, p. 175-182 8 p.Research output: Contribution to journal › Article › peer-review
Open Access77 Scopus citations