J. Pascual

发表

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

C. Roe, I. Marín-Valencia, J. Pascual, 2010, Molecular genetics and metabolism.

Imaging the metabolic footprint of Glut1 deficiency on the brain

R. V. Van Heertum, K. Engelstad, Dong Wang, 2002, Annals of neurology.

Dichloroacetate causes toxic neuropathy in MELAS

S. Dimauro, M. Sano, W. S. Millar, 2006, Neurology.

Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

Mary Beth Nebel, Jacob Ellegood, M. B. Nebel, 2017, Nature Neuroscience.

Modeling of Brain Metabolism and Pyruvate Compartmentation Using 13C NMR in Vivo: Caution Required

L. Good, C. Malloy, P. Henry, 2013, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency

J. Pascual, 2017 .

Valproic Acid Enhances Glucose Transport in the Cultured Brain Astrocytes of Glucose Transporter 1 Heterozygous Mice

Hong Yang, J. Pascual, Sung-Koo Kim, 2013, Journal of child neurology.

Vivo Heterozygous Mice Valproic Acid Enhances Glucose Transport in the Cultured Brain Astrocytes of Glucose Transporter 1

Hong Yang, J. Pascual, Sung-Koo Kim, 2012 .

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy

Jason Y. Park, J. Pascual, J. Sorelle, 2020, JAMA network open.

Menkes disease and other ATP7A disorders

J. Pascual, J. Menkes, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Menkes disease and other ATP7A disorders

J. Pascual, J. Menkes, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

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

L. Good, C. Malloy, Mulchand S Patel, 2012, Neurochemistry International.

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

L. Good, C. Malloy, I. Marín-Valencia, 2012, Journal of Neuroscience Methods.

Neurodegenerative and Other Progressive Disorders in Childhood

J. Pascual, 2017 .

Functional Studies of Threonine 310 Mutations in Glut1

Hong Yang, Dong Wang, J. Pascual, 2003, Journal of Biological Chemistry.

Structural Signatures and Membrane Helix 4 in GLUT1

Lei Shi, Hong Yang, Dong Wang, 2008, Journal of Biological Chemistry.

IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.

J. Pascual, N. Agim, N. Uddin, 2015, JAMA neurology.

Glucose Transporter Type 1 Deficiency Syndrome

Dong Wang, D. Vivo, J. Pascual, 2015 .

GLUT1 deficiency and other glucose transporter diseases.

Hong Yang, Dong Wang, J. Pascual, 2004, European journal of endocrinology.

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

R T Brown, J. Schatz, M. DeBaun, 2001, Neurology.

Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice

M. B. Nebel, J. Lerch, S. Mostofsky, 2018, Nature Neuroscience.

Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy

F. Hanefeld, Hong Yang, Dong Wang, 2001, Annals of neurology.

Developmental Neurology: A Molecular Perspective

J. Pascual, 2007 .

Intramyocellular lipid excess in the mitochondrial disorder MELAS

C. Malloy, J. Pascual, Jimin Ren, 2017, Neurology: Genetics.

A mouse model for Glut-1 haploinsufficiency.

J. Noebels, Hong Yang, K. Engelstad, 2006, Human molecular genetics.

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

N. Grishin, B. Faubert, R. Deberardinis, 2019, Cell reports.

Metabolism‐based therapies for epilepsy: new directions for future cures

J. Rho, E. Thiele, G. Yellen, 2021, Annals of clinical and translational neurology.

Heptanoate as a Neural Fuel: Energetic and Neurotransmitter Precursors in Normal and Glucose Transporter I-Deficient (G1D) Brain

L. Good, C. Malloy, I. Marín-Valencia, 2013, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Metabolic Diseases of the Nervous System

J. Pascual, 2007 .

Bacteraemia with Cedecea neteri in a patient with systemic lupus erythematosus

J. Pascual, E. Loza, J. Ortuño, 1995, Postgraduate medical journal.

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

L. Good, T. Bottiglieri, C. Sinton, 2012, Neurobiology of Disease.

Age-dependent changes of cerebral copper metabolism in Atp7b−/− knockout mouse model of Wilson’s disease by [64Cu]CuCl2-PET/CT

O. Muzik, Y. Xi, J. Pascual, 2017, Metabolic Brain Disease.

Frontotemporal Degeneration in a Child.

J. Pascual, Tyler Terrill, 2017, Pediatric neurology.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

R. Artuch, J. Pascual, J. Campistol, 2014, Pediatric Neurology.

Giant Axonal Neuropathy

J. Pascual, 2017 .

A mouse model for Glut1 haploinsufficiency

J. Noebels, Hong Yang, K. Engelstad, 2006 .

Exosomes in disease: Epigenetic signals from the nervous system to the rest of the organism

D. Noble, J. Pascual, 2019, Neuroscience Letters.

Immunophenotypic Characterization and Quantification of the Epithelial Inflammatory Infiltrate in Eosinophilic Esophagitis Through Stereology: An Analysis of the Cellular Mechanisms of the Disease and the Immunologic Capacity of the Esophagus

L. Santamaría, J. Pascual, A. Lucendo, 2007, The American journal of surgical pathology.

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

R. Deberardinis, E. Maher, L. Good, 2012, Cell metabolism.

Acute and chronic effects of glucose on brain metabolism : findings from healthy subjects and diseased conditions

Hanzhang Lu, J. Pascual, Peiying Liu, 2011 .

Charcot-Marie-Tooth Disease

J. Pascual, 2017 .

2-hydroxyglutarate detection by magnetic resonance spectroscopy in subjects with IDH-mutated gliomas

R. Deberardinis, E. Maher, D. Rakheja, 2015 .

Development of pulmonary hypertension after placement of a ventriculoatrial shunt.

J. Pascual, U. Prakash, Udaya B. S. Prakash, 1993, Mayo Clinic proceedings.

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

S. Dimauro, M. Oskoui, J. Pascual, 2006, Archives of neurology.

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

I. Scheffer, E. Kossoff, S. Auvin, 2020, Epilepsia open.

Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.

R. Artuch, X. Setoain, B. Pérez-Dueñas, 2009, Archives of neurology.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Allergy assessment in children with eosinophilic esophagitis.

B. D. L. H. Caballer, J. Pascual, C. Verge, 2011 .

Epilepsy in Inherited Metabolic Disorders

A. Gil-Nagel, J. Pascual, J. Campistol, 2008, The neurologist.

Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer’s disease

Heng Du, J. Pascual, S. Kroener, 2016, Nature Communications.

Progressive Brain Disorders in Childhood

J. Pascual, 2017 .

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome

J. Pascual, C. Xing, V. Mootha, 2014, Molecular vision.

Intraventricular haemorrhage complicating a brain abscess.

J. Pascual, J. Carda, A. Vázquez‐Barquero, 1987, Postgraduate medical journal.

Changes in Glucose Transport and Water Permeability Resulting from the T310I Pathogenic Mutation in Glut1 Are Consistent with Two Transport Channels per Monomer*

Hong Yang, Dong Wang, J. Pascual, 2002, The Journal of Biological Chemistry.

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency

L. Good, R. Bachoo, C. Malloy, 2019, Science Translational Medicine.

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

B. Wong, J. Mendell, W. Craigen, 2013, Molecular genetics and metabolism.

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

B. Cormand, A. Ormazabal, R. Artuch, 2011, Archives of neurology.

Diagnostic yield of clinical next-generation sequencing panels for epilepsy.

Jason Y. Park, J. Pascual, Jason Wang, 2014, JAMA neurology.

Metabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cells

Robert A. Egnatchik, R. Deberardinis, P. Scaglioni, 2015, Cancer & metabolism.

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

S. Dimauro, M. Sano, Ying Wei, 2009, Archives of neurology.

2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated glioma patients

Dinesh Rakheja, Zoltan Kovacs, Kimmo J. Hatanpaa, 2011, Nature Medicine.

[Cerebral palsy: prenatal risk factors].

J. Pascual, M. Koenigsberger, 2003, Revista de neurología (Ed. impresa).

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

Hong Yang, K. Engelstad, Dong Wang, 2005, Annals of Neurology.

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

Jing Ma, Philip W Shaul, Youxing Jiang, 2015, Molecular cell.

Clinical, Analytical, and Etiologic Aspects

B. Cormand, R. Artuch, B. Pérez-Dueñas, 2011 .

Chapter 36 – Wolman Disease

I. Marín-Valencia, J. Pascual, 2015 .

Wolman disease

I. Marín-Valencia, J. Pascual, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry

Jianzhong Su, J. Pascual, J. Hao, 2017, JAMA neurology.

Brain glucose supply and the syndrome of infantile neuroglycopenia.

R. V. Van Heertum, K. Engelstad, Dong Wang, 2007, Archives of neurology.

[Glucose transport hereditary diseases].

J. Pascual, 2006, Medicina clinica.

Pelizaeus-Merzbacher Disease

J. Pascual, 2017 .

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation.

S. Dimauro, K. Engelstad, P. Kaufmann, 2006, Archives of neurology.

Glucose transporter type I deficiency and other glucose flux disorders

Dong Wang, D. Vivo, J. Pascual, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

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

J. Pascual, G. Ronen, Gabriel M Ronen, 2015, Pediatric neurology.

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

I. Marín-Valencia, J. Pascual, M. Tondo, 2015 .

Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement.

Jason Y. Park, Hanzhang Lu, L. Good, 2014, JAMA neurology.

Functional Studies of the T295M Mutation Causing Glut1 Deficiency: Glucose Efflux Preferentially Affected by T295M

Lei Shi, Hong Yang, K. Engelstad, 2008, Pediatric Research.

Glut1 Deficiency (G1D)

J. Pascual, 2015 .

GLUT-1 deficiency syndrome with ataxia, acquired microcephaly and leukoencephalopathy in monozygotic twins

K. Engelstad, Dong Wang, M. Henneke, 2005 .

Rectal Biopsy in the Diagnosis of Neuronal Intranuclear Hyaline Inclusion Disease

M. Patterson, S. Chin, R. Kairam, 2004, Journal of child neurology.

Erratum: Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo (Cell Metabolism (2012) 16 (394-406))

R. Deberardinis, E. Maher, L. Good, 2012 .

Vici syndrome

J. Pascual, 2020, Definitions.

Glucose transporter protein syndromes.

Dong Wang, J. Pascual, D. D. De Vivo, 2002, International review of neurobiology.

Molybdenum Cofactor Deficiency

J. Pascual, 2017 .

Effect of Hypoxia and Hyperoxia on Cerebral Blood Flow, Blood Oxygenation, and Oxidative Metabolism

Peiying Liu, Guanghua Xiao, Feng Xu, 2012, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Genetic Disorders of Neuromuscular Development

J. Pascual, 2007 .

Manometric findings in adult eosinophilic oesophagitis: a study of 12 cases

J. Pascual, A. Lucendo, N. Manceñido, 2007, European journal of gastroenterology & hepatology.

Eosinophilic esophagitis in adults: an emerging disease.

J. Pascual, A. Lucendo, M. Navarro, 2004, Digestive Diseases and Sciences.

Case Report: Eosinophilic Esophagitis in Adults: An Emerging Disease

J. Pascual, A. Lucendo, M. Navarro, 2004, Digestive Diseases and Sciences.

Acute effect of glucose on cerebral blood flow, blood oxygenation, and oxidative metabolism

Peiying Liu, Guanghua Xiao, Feng Xu, 2015, Human brain mapping.

Effects of GABA on gastric acid secretion and ulcer formation in rats.

J. Pascual, F. J. Miñano, J. Pascual, 1987, Life sciences.