Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

Research Output

2020
Open Access
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

2 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
2 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
3 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

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., Jan 1 2018, In : Epilepsia. 59, 1, p. 27-36 10 p.

Research output: Contribution to journalReview article

13 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

18 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

8 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

8 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

66 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

8 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

12 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

42 Scopus citations

Genetic gradients in epileptic brain malformations

Pascual, J. M., Jul 1 2016, In : JAMA Neurology. 73, 7, p. 787 1 p.

Research output: Contribution to journalEditorial

2 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

22 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

Understanding Atomic Interactions to Achieve Well-Being

Pascual, J. M., Jun 1 2016, In : JAMA Neurology. 73, 6, p. 626-627 2 p.

Research output: Contribution to journalEditorial

3 Scopus citations
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

14 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

11 Scopus citations

Glut1 Deficiency (G1D)

Pascual, J. M., Jan 1 2015, Movement Disorders: Genetics and Models: Second Edition. Elsevier Inc., p. 785-795 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

38 Scopus citations

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

Wang, J., Gotway, G., Pascual, J. M. & Park, J. Y., May 2014, In : JAMA Neurology. 71, 5, p. 650-651 2 p.

Research output: Contribution to journalLetter

31 Scopus citations

Glucose Transporter Type I Deficiency and Other Glucose Flux Disorders

Pascual, J. M., Wang, D. & De Vivo, D. C., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 649-662 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

Kernicterus

Pascual, J. M., Jan 1 2014, Encyclopedia of the Neurological Sciences. Elsevier Inc., p. 801-804 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Menkes Disease and Other ATP7A Disorders

Pascual, J. M. & Menkes, J. H., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 455-462 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 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

3 Scopus citations

Pyruvate Dehydrogenase, Pyruvate Carboxylase, Krebs Cycle and Mitochondrial Transport Disorders

Tondo, M., Marin-Valencia, I., Ma, Q. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 291-297 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2 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

Wolman Disease

Marin-Valencia, I. & Pascual, J. M., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 403-409 7 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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., Feb 18 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

56 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

46 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

23 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

9 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
436 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

270 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