Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

Research output

Research output per year 1995 2011 2012 2013 2014 2020 2021 2022 2023 2024

• 106 Article
• 16 Chapter
• 15 Review article
• 10 Comment/debate
• 9 More
  • 4 Letter
  • 2 Foreword/postscript
  • 2 Editorial
  • 1 Book

Research output per year

Research output per year

Search results

• 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

  • Learning 100%
  • Genome 92%
  • Mutation 76%
  • Genes 32%
  • Histone Methyltransferases 18%
• 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-e189

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glucose Transporter Type 1 100%
  • Acetazolamide 81%
  • Epilepsy 53%
  • Seizures 21%
  • Absence Epilepsy 12%
  2 Scopus citations

• Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort

  van Gemert, L. A., Pascual, J. M. & Willemsen, M. A., Jul 2023, In: European Journal of Paediatric Neurology. 45, p. 55-56 2 p.

  Research output: Contribution to journal › Letter › peer-review

• 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

  • messenger ribonucleoprotein 100%
  • Fragile X Syndrome 84%
  • Cerebellar Diseases 68%
  • Autistic Disorder 64%
  • Disorder 55%

• 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

  • triheptanoin 100%
  • Glucose Transporter Type 1 79%
  • Ketogenic Diet 71%
  • Carbon 50%
  • Ketosis 32%

• Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders

  Goodspeed, K., Armstrong, D., Dolce, A., Evans, P., Said, R., Tsai, P. & Sirsi, D., May 2023, In: Journal of child neurology. 38, 6-7, p. 466-477 12 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Neurodevelopmental Disorders 100%
  • Inborn Genetic Diseases 78%
  • Biomarkers 55%
  • Psychological Power 53%
  • Rett Syndrome 38%
  3 Scopus citations

• 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

  • Glut1 Deficiency Syndrome 100%
  • Deep Learning 76%
  • Facilitative Glucose Transport Proteins 64%
  • Glucose 35%
  • In Vitro Techniques 24%
  2 Scopus citations

• Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology

  Pascual, J. M., Jakkamsetti, V., Málaga, I. & Noble, D., Nov 2023, In: Pediatric Neurology. 148, p. 198-205 8 p.

  Research output: Contribution to journal › Review article › peer-review

  • Neurology 100%
  • Causality 87%
  • Genetic Therapy 87%
  • Genes 38%
  • Inborn Genetic Diseases 29%
  1 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

  • Facilitative Glucose Transport Proteins 100%
  • Baths 59%
  • Glucose 54%
  • Seizures 44%
  • Neurons 35%

• 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 othersPatnaik, S., Hoffmann, U., Hackmann, A. E., Mickey, B., Peltz, M., Jessen, M. E. & Pascual, J. M., Dec 2023, In: Scientific reports. 13, 1, 13942.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Swine 100%
  • Maintenance 88%
  • Electrocorticography 87%
  • Brain 61%
  • Extracorporeal Circulation 39%
  1 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 Access

  • triheptanoin 100%
  • Glucose Transporter Type 1 79%
  • Ketosis 64%
  • Carbon 30%
  • Safety 29%
  1 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 Access

  • Erythrocyte Transfusion 100%
  • Erythrocytes 63%
  • Glucose 51%
  • Brain 39%
  • Erythrocyte Count 20%
  7 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

  • Calcium-Calmodulin-Dependent Protein Kinase Type 2 100%
  • Synapses 72%
  • ARNTL Transcription Factors 71%
  • Phosphorylation 54%
  • Circadian Clocks 48%
• 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 Access

  • Social Behavior 100%
  • Autism Spectrum Disorder 89%
  • Autistic Disorder 85%
  • Sirolimus 26%
  • Tuberous Sclerosis 15%
  6 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 Access

  • Acetyl Coenzyme A 100%
  • Pyruvate Dehydrogenase Complex Deficiency Disease 85%
  • Pyruvic Acid 81%
  • Synaptic Transmission 71%
  • Oxidoreductases 69%
  4 Scopus citations

• Author Correction: Recording of pig neuronal activity in the comparative context of the awake human brain (Scientific Reports, (2022), 12, 1, (15503), 10.1038/s41598-022-19688-2)

  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, 20588.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Swine 100%
  • Bioengineering 82%
  • Brain 61%
  • Pathology 39%

• 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 Access

  • Glycine 100%
  • Epilepsy 83%
  • Seizures 76%
  • Mechanistic Target of Rapamycin Complex 1 61%
  • Mortality 49%

• 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 Access

  • Consciousness 100%
  • Electroencephalography 62%
  • Glucose 61%
  • Deoxyglucose 56%
  • Glycogen 51%
  9 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 Access

  • Mitochondrial Diseases 100%
  • Transcriptome 73%
  • Disorder 41%
  • Pharmacological Metabolism 37%
  • Genes 32%
  2 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 Access

  • Electrocorticography 100%
  • Swine 56%
  • Brain 35%
  • Mammals 31%
  • Anesthetics 31%
  2 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 Access

  • Social Behavior 100%
  • Interpersonal Relations 90%
  • Autistic Disorder 57%
  • Systems Integration 41%
  • Cerebellar Diseases 37%
  20 Scopus citations

• Author Correction: Quantification of early learning and movement sub-structure predictive of motor performance (Scientific Reports, (2021), 11, 1, (14405), 10.1038/s41598-021-93944-9)

  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, 19762.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Learning 100%
  • Entropy 40%
  • Tooth 24%

• Cerebellar Dysfunction in Autism Spectrum Disorders: Deriving Mechanistic Insights from an Internal Model Framework

  Kelly, E., Escamilla, C. O. & Tsai, P. T., May 10 2021, In: Neuroscience. 462, p. 274-287 14 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Cerebellar Diseases 100%
  • Autism Spectrum Disorder 78%
  • Neurodevelopmental Disorders 14%
  • Cerebellum 11%
  • Brain 6%
  15 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 Access

  • 3-Oxopentanoic Acid 100%
  • beta-hydroxyvaleric acid 86%
  • Facilitative Glucose Transport Proteins 51%
  • formic acid 34%
  • Acids 33%
  3 Scopus citations

• Large animal models of glioma: Current status and future prospects

  HICKS, WILLIAM. H., BIRD, CYLAINA. E., PERNIK, MARK. N., HAIDER, ALI. S., DOBARIYA, AKSHARKUMAR., ABDULLAH, KALIL. G., AOUN, SALAH. G., BENTLEY, R. TIMOTHY., COHEN-GADOL, AARON. A., BACHOO, ROBERT. M., MICKEY, BRUCE. E., PASCUAL, JUAN. M. & EL AHMADIEH, TAREK. Y., Nov 2021, In: Anticancer Research. 41, 11, p. 5343-5353 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Glioma 100%
  • Animal Models 78%
  • Clinical Trials 35%
  • Animals 18%
  • Glioblastoma 17%
  16 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 Access

  • Epilepsy 100%
  • Direction compound 86%
  • Therapeutics 19%
  • Seizures 18%
  • Clinical Studies 16%
  7 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 Access

  • Learning 100%
  • Accidental Falls 77%
  • Entropy 69%
  • Baclofen 48%
  • Acceleration 38%
  8 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 Access

  • Epilepsy 100%
  • Cross-Sectional Studies 25%
  • Genes 23%
  • Datasets 15%
  • Health Care Outcome Assessment 12%
  5 Scopus citations

• Glucose transporter type I deficiency and other glucose flux disorders

  Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 849-863 15 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Facilitative Glucose Transport Proteins 100%
  • Glucose 54%
  • Brain 42%
  • High-Protein Low-Carbohydrate Diets 28%
  • Erythrocytes 27%

• 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 Access
  5 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 othersVeggiotti, P., Willemsen, M., Zuberi, S. M. & De Vivo, D. C., Sep 1 2020, In: Epilepsia Open. 5, 3, p. 354-365 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Glut1 Deficiency Syndrome 100%
  • Ketogenic Diet 29%
  • Diet Therapy 24%
  • Glucose Transporter Type 1 21%
  • Head Movements 17%
  125 Scopus citations

• Introduction

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2. Elsevier, p. xxi-xxii

  Research output: Chapter in Book/Report/Conference proceeding › Foreword/postscript

• Introduction

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. xxv-xxvi

  Research output: Chapter in Book/Report/Conference proceeding › Foreword/postscript

• Menkes disease and other ATP7A disorders

  Pascual, J. M. & Menkes, J. H., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 613-619 7 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Menkes Kinky Hair Syndrome 100%
  • Tyrosine Phenol-Lyase 43%
  • Copper 43%
  • Hair 42%
  • Occipital horn syndrome 41%

• Pyruvate dehydrogenase, pyruvate carboxylase, Krebs cycle, and mitochondrial transport disorders

  Jakkamsetti, V., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 427-436 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Pyruvate Carboxylase 100%
  • Mitochondrial Diseases 81%
  • Citric Acid Cycle 80%
  • Pyruvic Acid 69%
  • Oxidoreductases 59%
  2 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 othersSilverman, J. L., Singh, K. K., Wevrick, R., Taylor, M. J., Hammill, C., Anagnostou, E., Pfeiffer, B. E., Stoodley, C. J., Lerch, J. P., du Lac, S. & Tsai, P. T., Sep 1 2020, In: Nature neuroscience. 23, 9, p. 1102-1110 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Autism Spectrum Disorder 100%
  • Autistic Disorder 96%
  • Prefrontal Cortex 52%
  • Purkinje Cells 43%
  • Cerebellum 35%
  125 Scopus citations

• Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2. Elsevier, p. 1-806 806 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System Diseases 100%
  • Mental Disorders 86%
  • Molecular Biology 86%
  • Neurologists 59%
  • Genetic Counseling 58%
  11 Scopus citations

• Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease

  Rosenberg, R. N. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 1-985 985 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Nervous System Diseases 100%
  • Mental Disorders 86%
  • Molecular Biology 86%
  • Neurologists 59%
  • Genetic Counseling 58%
  2 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 Access

  • triheptanoin 100%
  • dementia 51%
  • brain 43%
  • Adenosine Triphosphate 39%
  • Alzheimer Disease 39%
  8 Scopus citations

• Wolman disease

  Marin-Valencia, I. & Pascual, J. M., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 559-566 8 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Wolman Disease 100%
  • Cholesterol Esters 69%
  • Sterol Esterase 34%
  • Enzyme Replacement Therapy 21%
  • Lysosomal acid lipase deficiency 14%
• 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 Access

  • Pyruvate Dehydrogenase Complex Deficiency Disease 100%
  • Citric Acid Cycle 58%
  • Glutamic Acid 31%
  • Brain 29%
  • Pyruvic Acid 25%
  44 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

• 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 othersMcNutt, M. C., Pascual, J. M. & DeBerardinis, R. J., Apr 30 2019, In: Cell Reports. 27, 5, p. 1376-1386.e6

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Inborn Errors Metabolism 100%
  • 2-Hydroxyglutaricaciduria 93%
  • Metabolomics 85%
  • Genomics 78%
  • Lipoylation 73%
  47 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 Access

  • Unconsciousness 100%
  • Capital Punishment 40%
  • Intraoperative Awareness 19%
  • Helium 16%
  • Neuromuscular Blockade 15%
  15 Scopus citations

• Therapeutic Targeting of mTORC2 in mTORopathies

  Dentel, B., Escamilla, C. O. & Tsai, P. T., Dec 18 2019, In: Neuron. 104, 6, p. 1032-1033 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Mechanistic Target of Rapamycin Complex 2 100%
  • Mechanistic Target of Rapamycin Complex 1 43%
  • Seizures 26%
  • Therapeutics 11%
  3 Scopus citations
• 2018

  Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice (Nature Neuroscience DOI: 10.1038/s41593-017-0004-1)

  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., Jul 1 2018, In: Nature neuroscience. 21, 7, p. 1016 1 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Neurosciences 100%
  • Autistic Disorder 93%
  7 Scopus citations

• Indications and methodology for video-electroencephalographic studies in the epilepsy monitoring unit

  Shih, J. J., Fountain, N. B., Herman, S. T., Bagic, A., Lado, F., Arnold, S., Zupanc, M. L., Riker, E. & Labiner, D. M., 2018, In: Epilepsia. 59, 1, p. 27-36 10 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Epilepsy 100%
  • Seizures 52%
  • Electroencephalography 28%
  • Hospital Administrators 24%
  • Insurance Carriers 21%
  59 Scopus citations

• 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.e17

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Mutation 100%
  • Clathrin 73%
  • Protein 48%
  • Proteins 43%
  • Missense Mutation 40%
  84 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 Access

  • Epilepsy 100%
  • Electroencephalogram (EEG) 85%
  • Plasticity 72%
  • Electroencephalography 62%
  • Modeling 41%
  19 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 Access

  • cupric chloride 100%
  • Hepatolenticular Degeneration 77%
  • Positron Emission Tomography Computed Tomography 65%
  • Copper 60%
  • Knockout Mice 55%
  18 Scopus citations