Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

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2020
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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., Jan 1 2019, In : Science Translational Medicine. 11, 480, aan0457.

Research output: Contribution to journalArticle

4 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

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

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 journalArticle

Open Access
4 Scopus citations
2018

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

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 journalArticle

20 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 1 2018, In : Communications in Nonlinear Science and Numerical Simulation. 56, p. 330-343 14 p.

Research output: Contribution to journalArticle

11 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., 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

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

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

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

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., 2017, (Accepted/In press) In : Magnetic Resonance in Medicine.

Research output: Contribution to journalArticle

13 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 journalArticle

45 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, Richard, G., Juusola, J., Kendall, F., Ramsey, K., Anyane-Yeboa, K., Malkin, E., Chung, W. K., Niyazov, D., Pascual, J. M., Walkiewicz, M., Veluchamy, V., Li, C., Hisama, F. M., De Vries, B. B. A. & Schaaf, C., Nov 1 2016, In : Genetics in Medicine. 18, 11, p. 1143-1150 8 p.

Research output: Contribution to journalArticle

25 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 journalArticle

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 journalArticle

15 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

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

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 journalArticle

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 journalArticle

18 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

Preface to the Fifth Edition

Rosenberg, R. N. & Pascual, J. M., Nov 13 2014, In : Unknown Journal. p. xxxiii-xxxiv

Research output: Contribution to journalArticle

4 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 journalArticle

46 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., 2013, In : Cerebral Cortex. 23, 3, p. 670-683 14 p.

Research output: Contribution to journalArticle

41 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 journalArticle

58 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

Lipofuscinosis neuronal ceroidea infantil tardía: Reporte de un caso

Translated title of the contribution: Late infantile neuronal ceroid lipofuscinosis: A case reportAndrea, A. B., Guadalupe, J. T., Fabiola, O. P., Susan, A., Said, R. & David, I. G., Jan 1 2013, In : Revista Mexicana de Neurociencia. 14, 1, p. 44-49 6 p.

Research output: Contribution to journalArticle

Modeling of brain metabolism and pyruvate compartmentation using 13 C NMR in vivo: Caution required

Jeffrey, F. M., Marin-Valencia, I., Good, L. B., Shestov, A. A., Henry, P. G., Pascual, J. M. & Malloy, C. R., Aug 1 2013, In : Journal of Cerebral Blood Flow and Metabolism. 33, 8, p. 1160-1167 8 p.

Research output: Contribution to journalArticle

16 Scopus citations

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene

Chanprasert, S., Wang, J., Weng, S. W., Enns, G. M., Boué, D. R., Wong, B. L., Mendell, J. R., Perry, D. A., Sahenk, Z., Craigen, W. J., Alcala, F. J. C., Pascual, J. M., Melancon, S., Zhang, V. W., Scaglia, F. & Wong, L. J. C., Sep 1 2013, In : Molecular genetics and metabolism. 110, 1-2, p. 153-161 9 p.

Research output: Contribution to journalArticle

25 Scopus citations

Prevalence and spot urine risk factors for renal stones in children taking topiramate

Corbin Bush, N., Twombley, K., Ahn, J., Oliveira, C., Arnold, S., Maalouf, N. M. & Sakhaee, K., Dec 2013, In : Journal of Pediatric Urology. 9, 6 PART A, p. 884-889 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Systemic metabolic abnormalities in adult-onset acid maltase deficiency beyond muscle glycogen accumulation

Pascual, J. M. & Roe, C. R., Jun 2013, In : JAMA neurology. 70, 6, p. 756-763 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice

Kim, S. K., Yang, H., Pascual, J. M. & De Vivo, D. C., Jan 1 2013, In : Journal of child neurology. 28, 1, p. 70-76 7 p.

Research output: Contribution to journalArticle

5 Scopus citations
2012
443 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

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

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

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

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

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

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

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

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

Metabolism of [U-13C]glucose in human brain tumors in vivo

Maher, E. A., Marin-Valencia, I., Bachoo, R. M., Mashimo, T., Raisanen, J., Hatanpaa, K. J., Jindal, A., Jeffrey, F. M., Choi, C., Madden, C., Mathews, D., Pascual, J. M., Mickey, B. E., Malloy, C. R. & Deberardinis, R. J., Nov 1 2012, In : NMR in biomedicine. 25, 11, p. 1234-1244 11 p.

Research output: Contribution to journalArticle

164 Scopus citations

Reorganization in processing of spectral and temporal input in the rat posterior auditory field induced by environmental enrichment

Jakkamsetti, V., Chang, K. Q. & Kilgard, M. P., Mar 1 2012, In : Journal of neurophysiology. 107, 5, p. 1457-1475 19 p.

Research output: Contribution to journalArticle

22 Scopus citations
2011

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

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
35 Scopus citations