Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

Research Output

Article
443 Scopus citations

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 journalArticle

15 Scopus citations

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., Jan 27 2017, (Accepted/In press) In : Metabolic Brain Disease. p. 1-10 10 p.

Research output: Contribution to journalArticle

9 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 journalArticle

74 Scopus citations

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 journalArticle

18 Scopus citations

A mouse model for Glut-1 haploinsufficiency

Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Mao, X., Cheng, J., Yoo, J., Noebels, J. L. & De Vivo, D. C., Apr 1 2006, In : Human molecular genetics. 15, 7, p. 1169-1179 11 p.

Research output: Contribution to journalArticle

123 Scopus citations

Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo

Marin-Valencia, I., Yang, C., Mashimo, T., Cho, S., Baek, H., Yang, X. L., Rajagopalan, K. N., Maddie, M., Vemireddy, V., Zhao, Z., Cai, L., Good, L., Tu, B. P., Hatanpaa, K. J., Mickey, B. E., Matés, J. M., Pascual, J. M., Maher, E. A., Malloy, C. R., DeBerardinis, R. J. & 1 others, Bachoo, R. M., Jun 6 2012, In : Cell Metabolism. 15, 6, p. 827-837 11 p.

Research output: Contribution to journalArticle

278 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 journalArticle

4 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, (Accepted/In press) In : Molecular Cell.

Research output: Contribution to journalArticle

41 Scopus citations
Open Access

Ataxia and weakness in a young woman

Beh, S. C., Nations, S., Pascual, J. M. & Vernino, S., Jul 1 2012, In : Archives of neurology. 69, 7, p. 924-927 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Author Correction: 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., Mar 16 2018, (Accepted/In press) In : Nature Neuroscience. 1 p.

Research output: Contribution to journalArticle

3 Scopus citations

Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy

Brockmann, K., Wang, D., Korenke, C. G., Von Moers, A., Ho, Y. Y., Pascual, J. M., Kuang, K., Yang, H., Li, M., Kranz-Eble, P., Fischbarg, J., Hanefeld, F. & De Vivo, D. C., Jan 1 2001, In : Annals of Neurology. 50, 4, p. 476-485 10 p.

Research output: Contribution to journalArticle

118 Scopus citations

Brain glucose supply and the syndrome of infantile neuroglycopenia

Pascual, J. M., Wang, D., Hinton, V., Engelstad, K., Saxena, C. M., Van Heertum, R. L. & De Vivo, D. C., Apr 2007, In : Archives of neurology. 64, 4, p. 507-513 7 p.

Research output: Contribution to journalArticle

Open Access
33 Scopus citations

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., Jan 1 2019, In : Science Translational Medicine. 11, 480, aan0457.

Research output: Contribution to journalArticle

4 Scopus citations

Cerebral folate deficiency syndromes in childhood: Clinical, analytical, and etiologic aspects

Pérez-Dueñas, B., Ormazábal, A., Toma, C., Torrico, B., Cormand, B., Serrano, M., Sierra, C., De Grandis, E., Marfa, M. P., García-Cazorla, A., Campistol, J., Pascual, J. M. & Artuch, R., May 1 2011, In : Archives of neurology. 68, 5, p. 615-621 7 p.

Research output: Contribution to journalArticle

46 Scopus citations

Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer

Iserovich, P., Wang, D., Li, M., Yang, H., Zuniga, F. A., Pascual, J. M., Kuang, K., De Vivo, D. C. & Fischbarg, J., Aug 23 2002, In : Journal of Biological Chemistry. 277, 34, p. 30991-30997 7 p.

Research output: Contribution to journalArticle

24 Scopus citations

Childhood chorea with cerebral hypotrophy: A treatable GLUT1 energy failure syndrome

Pérez-Dueñas, B., Prior, C., Ma, Q., Fernández-Álvarez, E., Setoain, X., Artuch, R. & Pascual, J. M., Nov 1 2009, In : Archives of neurology. 66, 11, p. 1410-1414 5 p.

Research output: Contribution to journalArticle

20 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 1 2017, In : JAMA Neurology. 74, 6, p. 727-732 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

Oskoui, M., Davidzon, G., Pascual, J., Erazo, R., Gurgel-Giannetti, J., Krishna, S., Bonilla, E., De Vivo, D. C., Shanske, S. & DiMauro, S., Aug 1 2006, In : Archives of neurology. 63, 8, p. 1122-1126 5 p.

Research output: Contribution to journalArticle

100 Scopus citations

Contribution of the NH2 terminus of Kv2.1 to channel activation

Pascual, J. M., Shieh, C. C., Kirsch, G. E. & Brown, A. M., Dec 1 1997, In : American Journal of Physiology - Cell Physiology. 273, 6 42-6, p. C1849-C1858

Research output: Contribution to journalArticle

26 Scopus citations

Cortical activity patterns predict speech discrimination ability

Engineer, C. T., Perez, C. A., Chen, Y. T. H., Carraway, R. S., Reed, A. C., Shetake, J. A., Jakkamsetti, V., Chang, K. Q. & Kilgard, M. P., May 29 2008, In : Nature neuroscience. 11, 5, p. 603-608 6 p.

Research output: Contribution to journalArticle

144 Scopus citations

Cortical Map Plasticity Improves Learning but Is Not Necessary for Improved Performance

Reed, A., Riley, J., Carraway, R., Carrasco, A., Perez, C., Jakkamsetti, V. & Kilgard, M. P., Apr 14 2011, In : Neuron. 70, 1, p. 121-131 11 p.

Research output: Contribution to journalArticle

141 Scopus citations

Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet 13C NMR of the adult mouse brain

Marin-Valencia, I., Good, L. B., Ma, Q., Malloy, C. R., Patel, M. S. & Pascual, J. M., Dec 1 2012, In : Neurochemistry International. 61, 7, p. 1036-1043 8 p.

Research output: Contribution to journalArticle

8 Scopus citations

Delimiting the binding site for quaternary ammonium lidocaine derivatives in the acetylcholine receptor channel

Pascual, J. M. & Karlin, A., Nov 1 1998, In : Journal of General Physiology. 112, 5, p. 611-621 11 p.

Research output: Contribution to journalArticle

33 Scopus citations

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 journalArticle

45 Scopus citations

Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial

Kaufmann, P., Engelstad, K., Wei, Y., Jhung, S., Sano, M. C., Shungu, D. C., Millar, W. S., Hong, X., Gooch, C. L., Mao, X., Pascual, J. M., Hirano, M., Stacpoole, P. W., DiMauro, S. & De Vivo, D. C., Feb 1 2006, In : Neurology. 66, 3, p. 324-330 7 p.

Research output: Contribution to journalArticle

257 Scopus citations

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., 2013, In : Cerebral Cortex. 23, 3, p. 670-683 14 p.

Research output: Contribution to journalArticle

41 Scopus citations

Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism

Xu, F., Liu, P., Pascual, J. M., Xiao, G. & Lu, H., Oct 1 2012, In : Journal of Cerebral Blood Flow and Metabolism. 32, 10, p. 1909-1918 10 p.

Research output: Contribution to journalArticle

98 Scopus citations

Effect of the environment on the dendritic morphology of the rat auditory cortex

Bose, M., Muñoz-Llancao, P., Roychowdhury, S., Nichols, J. A., Jakkamsetti, V., Porter, B., Byrapureddy, R., Salgado, H., Kilgard, M. P., Aboitiz, F., Dagnino-Subiabre, A. & Atzori, M., Feb 1 2010, In : Synapse. 64, 2, p. 97-110 14 p.

Research output: Contribution to journalArticle

73 Scopus citations

Environmental enrichment selectively increases glutamatergic responses in layer II/III of the auditory cortex of the rat

Nichols, J. A., Jakkamsetti, V. P., Salgado, H., Dinh, L., Kilgard, M. P. & Atzori, M., Mar 30 2007, In : Neuroscience. 145, 3, p. 832-840 9 p.

Research output: Contribution to journalArticle

34 Scopus citations

Evaluación del tratamiento quirúrgico temprano en lactantes con epilepsias catastróficas asociadas a displasias corticales

Translated title of the contribution: Evaluation of early surgical treatment in infants with catastrophic epilepsies associated with cortical dysplasiasAndrade-Bañuelos, A., Jean-Tron, G., Ortega-Ponce, F. E., Arnold, S. T., Said, R., Price, A. & Cortina-Ramírez, M., May 1 2012, In : Revista Mexicana de Neurociencia. 13, 3, p. 132-138 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Evaluation of cardiovascular status in severe leptospirosis

Trivedi, S. V., Bhattacharya, A., Amichandwala, K. & Jakkamsetti, V., Oct 1 2003, In : Journal of Association of Physicians of India. 51, OCT, p. 951-953 3 p.

Research output: Contribution to journalArticle

21 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, 1 p.

Research output: Contribution to journalArticle

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 journalArticle

58 Scopus citations

Frontotemporal Degeneration in a Child

Terrill, T. & Pascual, J. M., Jul 1 2017, In : Pediatric Neurology. 72, p. 62-64 3 p.

Research output: Contribution to journalArticle

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

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Functional role of a conserved aspartate in the external mouth of voltage-gated potassium channels

Kirsch, G. E., Pascual, J. M. & Shieh, C. C., Jan 1 1995, In : Biophysical journal. 68, 5, p. 1804-1813 10 p.

Research output: Contribution to journalArticle

Open Access
40 Scopus citations

Functional studies of the T295M mutation causing Glut1 deficiency: Glucose efflux preferentially affected by T295M

Wang, D., Yang, H., Shi, L., Ma, L., Fujii, T., Engelstad, K., Pascual, J. M. & De Vivo, D. C., Nov 1 2008, In : Pediatric Research. 64, 5, p. 538-543 6 p.

Research output: Contribution to journalArticle

16 Scopus citations

Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency.

Wang, D., Pascual, J. M., Iserovich, P., Yang, H., Ma, L., Kuang, K., Zuniga, F. A., Sun, R. P., Swaroop, K. M., Fischbarg, J. & De Vivo, D. C., Dec 5 2003, In : The Journal of biological chemistry. 278, 49, p. 49015-49021 7 p.

Research output: Contribution to journalArticle

Open Access
13 Scopus citations

Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors

Marin-Valencia, I., Cho, S. K., Rakheja, D., Hatanpaa, K. J., Kapur, P., Mashimo, T., Jindal, A., Vemireddy, V., Good, L. B., Raisanen, J. M., Sun, X., Mickey, B. E., Choi, C., Takahashi, M., Togao, O., Pascual, J. M., DeBerardinis, R. J., Maher, E. A., Malloy, C. R. & Bachoo, R., Oct 1 2012, In : NMR in biomedicine. 25, 10, p. 1177-1186 10 p.

Research output: Contribution to journalArticle

43 Scopus citations

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease

Pascual, J. M. & Ronen, G. M., Nov 1 2015, In : Pediatric Neurology. 53, 5, p. 379-393 15 p.

Research output: Contribution to journalArticle

12 Scopus citations

Glut1 deficiency (G1D): Epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype

Marin-Valencia, I., Good, L. B., Ma, Q., Duarte, J., Bottiglieri, T., Sinton, C. M., Heilig, C. W. & Pascual, J. M., Oct 1 2012, In : Neurobiology of Disease. 48, 1, p. 92-101 10 p.

Research output: Contribution to journalArticle

29 Scopus citations

Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

Wang, D., Pascual, J. M., Yang, H., Engelstad, K., Jhung, S., Sun, R. P. & De Vivo, D. C., Jan 1 2005, In : Annals of Neurology. 57, 1, p. 111-118 8 p.

Research output: Contribution to journalArticle

219 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 1 2013, In : Journal of Cerebral Blood Flow and Metabolism. 33, 2, p. 175-182 8 p.

Research output: Contribution to journalArticle

47 Scopus citations

High-resolution detection of 13C multiplets from the conscious mouse brain by ex vivo NMR spectroscopy

Marin-Valencia, I., Good, L. B., Ma, Q., Jeffrey, F. M., Malloy, C. R. & Pascual, J. M., Jan 15 2012, In : Journal of Neuroscience Methods. 203, 1, p. 50-55 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

IKBKG mutation with incontinentia pigmenti and ring-enhancing encephalopathy

Eksambe, D., Agim, N., Uddin, N., Gotway, G. & Pascual, J. M., Dec 1 2015, In : JAMA Neurology. 72, 12, p. 1533-1535 3 p.

Research output: Contribution to journalArticle

Imaging the metabolic footprint of Glut1 deficiency on the brain

Pascual, J. M., Van Heertum, R. L., Wang, D., Engelstad, K. & De Vivo, D. C., Oct 1 2002, In : Annals of Neurology. 52, 4, p. 458-464 7 p.

Research output: Contribution to journalArticle

105 Scopus citations

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 journalArticle

3 Scopus citations

Inverted-U function relating cortical plasticity and task difficulty

Engineer, N. D., Engineer, C. T., Reed, A. C., Pandya, P. K., Jakkamsetti, V., Moucha, R. & Kilgard, M. P., Mar 15 2012, In : Neuroscience. 205, p. 81-90 10 p.

Research output: Contribution to journalArticle

15 Scopus citations