Neurology & Neurotherapeutics - NE Neuro Pediatrics Section

Research Output

1995

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

K+ pore structure revealed by reporter cysteines at inner and outer surfaces

Pascual, J. M., Shieh, C. C., Kirsch, G. E. & Brown, A. M., May 1995, In : Neuron. 14, 5, p. 1055-1063 9 p.

Research output: Contribution to journalArticle

101 Scopus citations

Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels

Pascual, J. M., Shieh, C. C., Kirsch, G. E. & Brown, A. M., Jan 1 1995, In : Biophysical journal. 69, 2, p. 428-434 7 p.

Research output: Contribution to journalArticle

Open Access
44 Scopus citations
1996

Epilepsy in children

Arnold, S. T. & Dodson, W. E., Dec 1 1996, In : Bailliere's Clinical Neurology. 5, 4, p. 783-802 20 p.

Research output: Contribution to journalReview article

7 Scopus citations
1997

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

The channel and the gate in the acetylcholine receptor

Karlin, A., Pascual, J. M., Wilson, G. G. & Zhang, H., Dec 1 1997, In : FASEB Journal. 11, 9, p. A862

Research output: Contribution to journalArticle

1998

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
101 Scopus citations
1999

Serum autoantibodies to brain in Landau-Kleffner variant, autism, and other neurologic disorders

Connolly, A. M., Chez, M. G., Pestronk, A., Arnold, S. T., Mehta, S. & Deul, R. K., Jan 1 1999, In : Journal of Pediatrics. 134, 5, p. 607-613 7 p.

Research output: Contribution to journalArticle

192 Scopus citations
2000

Response to steroid therapy in autism secondary to autoimmune lymphoproliferative syndrome

Shenoy, S., Arnold, S. & Chatila, T., Jan 1 2000, In : Journal of Pediatrics. 136, 5, p. 682-687 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

The intrinsic electrostatic potential and the intermediate ring of charge in the acetylcholine receptor channel

Wilson, G. G., Pascual, J. M., Brooijmans, N., Murray, D. & Karlin, A., Sep 26 2000, In : Journal of General Physiology. 115, 2, p. 93-106 14 p.

Research output: Contribution to journalArticle

49 Scopus citations

Transparahippocampal selective amygdalohippocampectomy in children and adolescents: Efficacy of the procedure and cognitive morbidity in patients

Robinson, S., Park, T. S., Blackburn, L. B., Bourgeois, B. F. D., Arnold, S. T. & Dobson, W. E., Jan 1 2000, In : Journal of neurosurgery. 93, 3, p. 402-409 8 p.

Research output: Contribution to journalArticle

48 Scopus citations
2001

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

Language regression in childhood

Shinnar, S., Rapin, I., Arnold, S., Tuchman, R. F., Shulman, L., Ballaban-Gil, K., Maw, M., Deuel, R. K. & Volkmar, F. R., Jan 1 2001, In : Pediatric Neurology. 24, 3, p. 185-191 7 p.

Research output: Contribution to journalArticle

128 Scopus citations

Poor school and cognitive functioning with silent cerebral infarcts and sickle cell disease

Schatz, J., Brown, R. T., Pascual, J. M., Hsu, L. & DeBaun, M. R., Apr 24 2001, In : Neurology. 56, 8, p. 1109-1111 3 p.

Research output: Contribution to journalArticle

177 Scopus citations
2002

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

Glucose transporter protein syndromes

De Vivo, D. C., Wang, D., Pascual, J. M. & Ho, Y. Y., 2002, In : International Review of Neurobiology. 51, p. 259-288 30 p.

Research output: Contribution to journalReview article

25 Scopus citations

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

Síndromes miasténicos del neonato

Translated title of the contribution: Neonatal myasthenic syndromesKoenigsberger, M. R. & Pascual, J. M., 2002, In : Revista de Neurologia. 34, 1, p. 47-51 5 p.

Research output: Contribution to journalArticle

3 Scopus citations
2003

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

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

Parálisis cerebral: Factores de riesgo prenatales

Translated title of the contribution: Cerebral palsy: Prenatal risk factorsPascual, J. M. & Koenigsberger, M. R., Aug 1 2003, In : Revista de Neurologia. 37, 3, p. 275-280 6 p.

Research output: Contribution to journalArticle

12 Scopus citations
2004

Deficiencia del transportador de glucosa tipo 1 (Glut1): Manifestaciones de un síndrome neurológico hereditario

Translated title of the contribution: Type 1 glucose transporter (Glut1) deficiency: Manifestations of a hereditary neurological syndromePascual, J. M., Lecumberri, B., Wang, D., Yang, R., Engelstad, K. & De Vivo, D. C., May 1 2004, In : Revista de Neurologia. 38, 9, p. 860-864 5 p.

Research output: Contribution to journalReview article

7 Scopus citations

Fever, molecular excitability and epilepsy

Pascual, J. M., Sep 16 2004, In : Neuroscience Letters. 368, 1, 1 p.

Research output: Contribution to journalComment/debate

GLUT1 deficiency and other glucose transporter diseases

Pascual, J. M., Wang, D., Lecumberri, B., Yang, H., Mao, X., Yang, R. & De Vivo, D. C., May 1 2004, In : European Journal of Endocrinology. 150, 5, p. 627-633 7 p.

Research output: Contribution to journalReview article

90 Scopus citations

Progresses in studies on the glucose transporter deficiency syndrome

Wang, D., Sun, R. P., Wang, X., Yang, R., Yang, H., Pascual, J. M. & De Vivo, D. C., Oct 2004, In : Zhonghua er ke za zhi. Chinese journal of pediatrics. 42, 10, p. 756-758 3 p.

Research output: Contribution to journalArticle

Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease

Kulikova-Schupak, R., Knupp, K. G., Pascual, J. M., Chin, S. S., Kairam, R. & Patterson, M. C., Jan 2004, In : Journal of child neurology. 19, 1, p. 59-62 4 p.

Research output: Contribution to journalArticle

15 Scopus citations
2005

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
2006

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

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

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

Fenocopias neurológicas

Translated title of the contribution: Neurological phenocopyingPascual, J. M., Dec 1 2006, In : Revista de Neurologia. 43, 12, p. 753-757 5 p.

Research output: Contribution to journalReview article

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation

Kaufmann, P., Pascual, J. M., Anziska, Y., Gooch, C. L., Engelstad, K., Jhung, S., DiMauro, S. & De Vivo, D. C., May 2006, In : Archives of neurology. 63, 5, p. 746-748 3 p.

Research output: Contribution to journalArticle

Open Access
33 Scopus citations

Síndromes hereditarios del transporte de glucosa

Translated title of the contribution: Glucose transport hereditary diseasesPascual, J. M., Nov 11 2006, In : Medicina Clinica. 127, 18, p. 709-714 6 p.

Research output: Contribution to journalReview article

5 Scopus citations
2007

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

Developmental Neurology: A Molecular Perspective

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 145-147 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 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

Genetic Disorders of Neuromuscular Development

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 163-176 14 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Metabolic Diseases of the Nervous System

Pascual, J. M., Dec 1 2007, Molecular Neurology. Elsevier Inc., p. 149-161 13 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations
2008

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

Deficiencia del transportador de glucosa tipo I: Una enfermedad neurometabólica tratable

Translated title of the contribution: Glucose transporter type 1 deficiency: A treatable neuro-metabolicdisorderGómez Lado, C., Couce Pico, M. L., Sánchez-Salmón, A. & Pascual, J. M., Sep 1 2008, In : Anales de Pediatria. 69, 3, p. 285-286 2 p.

Research output: Contribution to journalLetter

Epilepsy in inherited metabolic disorders

Pascual, J. M., Campistol, J. & Gil-Nagel, A., Nov 1 2008, In : Neurologist. 14, 6 SUPPL. 1, p. S2-S14

Research output: Contribution to journalReview article

24 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

Structural signatures and membrane helix 4 in GLUT1: Inferences from human blood-brain glucose transport mutants

Pascual, J. M., Wang, D., Yang, R., Shi, L., Yang, H. & De Vivo, D. C., Jun 13 2008, In : Journal of Biological Chemistry. 283, 24, p. 16732-16742 11 p.

Research output: Contribution to journalArticle

33 Scopus citations
2009

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

Preventing misfolded neuronal protein aggregation by molecular diplomacy

Pascual, J. M., Jan 9 2009, In : Neuroscience Letters. 449, 2, p. 85-86 2 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Protean phenotypic features of the A3243G mitochondrial DNA mutation

Kaufmann, P., Engelstad, K., Wei, Y., Kulikova, R., Oskoui, M., Battista, V., Koenigsberger, D. Y., Pascual, J. M., Sano, M., Hirano, M., DiMauro, S., Shungu, D. C., Mao, X. & De Vivo, D. C., Jan 1 2009, In : Archives of neurology. 66, 1, p. 85-91 7 p.

Research output: Contribution to journalArticle

42 Scopus citations
2010

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

Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

Marin-Valencia, I., Roe, C. R. & Pascual, J. M., Sep 1 2010, In : Molecular genetics and metabolism. 101, 1, p. 9-17 9 p.

Research output: Contribution to journalReview article

63 Scopus citations
2011

Animal models of the human mind: Is there anything like being autistic?

Pascual, J. M., Nov 14 2011, In : Neuroscience Letters. 505, 2, p. 59-60 2 p.

Research output: Contribution to journalComment/debate