Pascual, Juan M.

Publications

Sort by

Co-Author Network

selected publications

Influence of Binarization Process on Vascular Density Metrics: A Quantitative Optical Coherence Tomography Angiography Assessment in Human and Porcine Retinas. 2025 GET IT
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures. American journal of human genetics. 2025 Academic Article GET IT
Amorphous silicon carbide probe mechanics for insertion in the cerebral cortex of rats, pigs, and macaques. Journal of neural engineering. 2025 Academic Article GET IT
Times cited: 2
Author Correction: Recording of pig neuronal activity in the comparative context of the awake human brain. 2024 GET IT
Genetic influences on motor learning and performance and superperforming mutants revealed by random mutational survey of the mouse genome. The Journal of physiology. 2024 Academic Article GET IT
Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models. Cell reports. 2023 Academic Article GET IT
Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations. Frontiers in neuroscience. 2023 Academic Article GET IT
Maintenance of pig brain function under extracorporeal pulsatile circulatory control (EPCC). Scientific reports. 2023 Academic Article GET IT
Times cited: 1
Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations. 2023 GET IT
Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology. Pediatric neurology. 2023 Review GET IT
Times cited: 1
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy. Epilepsia. 2023 Academic Article GET IT
Times cited: 10
Genetic influences on motor learning and superperformance mutants revealed by random mutational survey of mouse locomotion. 2023 GET IT
Additional data on head circumference in patients with glucose transporter 1 deficiency syndrome: The Glut1 deficiency foundation conference cohort. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 2023 Letter GET IT
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D). Scientific reports. 2023 Academic Article GET IT
Maximum dose, safety, tolerability and ketonemia after triheptanoin in glucose transporter type 1 deficiency (G1D). Scientific reports. 2023 Academic Article GET IT
Times cited: 3
Identification of Glucose Transport Modulators In Vitro and Method for Their Deep Learning Neural Network Behavioral Evaluation in Glucose Transporter 1-Deficient Mice. The Journal of pharmacology and experimental therapeutics. 2023 Academic Article GET IT
Times cited: 2
Red blood cells as glucose carriers to the human brain: Modulation of cerebral activity by erythrocyte exchange transfusion in Glut1 deficiency (G1D). Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2022 Academic Article GET IT
Times cited: 14
Author Correction: Recording of pig neuronal activity in the comparative context of the awake human brain. 2022 GET IT
Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency. Science translational medicine. 2022 Academic Article GET IT
Times cited: 19
Recording of pig neuronal activity in the comparative context of the awake human brain. Scientific reports. 2022 Academic Article GET IT
Times cited: 9
Increased glycine contributes to synaptic dysfunction and early mortality in Nprl2 seizure model. iScience. 2022 Academic Article GET IT
A subset of synaptic transmission events is coupled to acetyl coenzyme A production. Journal of neurophysiology. 2022 Academic Article GET IT
Times cited: 7
Mitochondrial disease manifestations in relation to transcriptome location and function. Molecular genetics and metabolism. 2021 Academic Article GET IT
Times cited: 4
Large Animal Models of Glioma: Current Status and Future Prospects. Anticancer research. 2021 Review GET IT
Times cited: 27
Author Correction: Quantification of early learning and movement sub-structure predictive of motor performance. 2021 GET IT
Development and validation of a LC-MS/MS method for quantitation of 3-hydroxypentanoic acid and 3-oxopentanoic acid in human plasma and its application to a clinical study of glucose transporter type I deficiency (G1D) syndrome. Journal of pharmaceutical and biomedical analysis. 2021 Academic Article GET IT
Times cited: 5
Quantification of early learning and movement sub-structure predictive of motor performance. Scientific reports. 2021 Academic Article GET IT
Times cited: 19
Metabolism-based therapies for epilepsy: new directions for future cures. Annals of clinical and translational neurology. 2021 Review GET IT
Times cited: 8
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia open. 2020 Academic Article GET IT
Times cited: 217
GLUT1 deficiency: Retinal detrimental effects of gliovascular modulation. Neurology. Genetics. 2020 Academic Article GET IT
Times cited: 7
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy. JAMA network open. 2020 Academic Article GET IT
Times cited: 9
Triheptanoin Mitigates Brain ATP Depletion and Mitochondrial Dysfunction in a Mouse Model of Alzheimer's Disease. Journal of Alzheimer's disease : JAD. 2020 Academic Article GET IT
Times cited: 12
Membranous Nephropathy Posttransplantation: An Update of the Pathophysiology and Management. Transplantation. 2019 Review GET IT
Times cited: 38
Exosomes in disease: Epigenetic signals from the nervous system to the rest of the organism. Neuroscience letters. 2019 Academic Article GET IT
Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans. 2019 GET IT
Times cited: 86
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency. Science translational medicine. 2019 Academic Article GET IT
Times cited: 64
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. Cell. 2018 Academic Article GET IT
Times cited: 105
Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice. 2018 GET IT
Times cited: 7
Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice. Nature neuroscience. 2017 Academic Article GET IT
Times cited: 285
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 2017 GET IT
Predicting seizure by modeling synaptic plasticity based on EEG signals - a case study of inherited epilepsy. Communications in nonlinear science & numerical simulation. 2017 Academic Article GET IT
Times cited: 24
Clinical Aspects of Glucose Transporter Type 1 Deficiency: Information From a Global Registry. JAMA neurology. 2017 Academic Article GET IT
Times cited: 47
Intramyocellular lipid excess in the mitochondrial disorder MELAS: MRS determination at 7T. Neurology. Genetics. 2017 Academic Article GET IT
Times cited: 8
Frontotemporal Degeneration in a Child. 2017 GET IT
Age-dependent changes of cerebral copper metabolism in Atp7b ^-/- knockout mouse model of Wilson's disease by [⁶⁴Cu]CuCl₂-PET/CT. Metabolic brain disease. 2017 Academic Article GET IT
Times cited: 21
Oxidation of [U-¹³ C]glucose in the human brain at 7T under steady state conditions. Magnetic resonance in medicine. 2017 Academic Article GET IT
Times cited: 22
The life, times and work of Charles R. Roe, M.D. Neuroscience letters. 2016 Editorial Article GET IT
Genetic Gradients in Epileptic Brain Malformations. JAMA neurology. 2016 Editorial Article GET IT
Times cited: 2
Understanding Atomic Interactions to Achieve Well-being. JAMA neurology. 2016 Editorial Article GET IT
Times cited: 3
Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease. Nature communications. 2016 Academic Article GET IT
Times cited: 147
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in medicine : official journal of the American College of Medical Genetics. 2016 Academic Article GET IT
Times cited: 69
IKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy. 2015 GET IT
Times cited: 1
Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease. Pediatric neurology. 2015 Review GET IT
Times cited: 36
Metabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cells. Cancer & metabolism. 2015 Academic Article GET IT
Times cited: 52
A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. Molecular cell. 2015 Academic Article GET IT
Times cited: 124
Acute effect of glucose on cerebral blood flow, blood oxygenation, and oxidative metabolism. Human brain mapping. 2014 Academic Article GET IT
Times cited: 31
Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA neurology. 2014 Academic Article GET IT
Times cited: 85
Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA neurology. 2014 Academic Article GET IT
Times cited: 53
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome. 2014 GET IT
Times cited: 16
Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet. 2013 GET IT
Times cited: 29
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Molecular genetics and metabolism. 2013 Academic Article GET IT
Times cited: 47
Systemic metabolic abnormalities in adult-onset acid maltase deficiency: beyond muscle glycogen accumulation. JAMA neurology. 2013 Academic Article GET IT
Times cited: 13
Modeling of brain metabolism and pyruvate compartmentation using (13)C NMR in vivo: caution required. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2013 Academic Article GET IT
Times cited: 26
Atlas of Inherited Metabolic Diseases, 3rd ed. Archives of neurology. 2012 Academic Article GET IT
Heptanoate as a neural fuel: energetic and neurotransmitter precursors in normal and glucose transporter I-deficient (G1D) brain. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2012 Academic Article GET IT
Times cited: 88
Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain. Neurochemistry international. 2012 Academic Article GET IT
Times cited: 13
Ataxia and weakness in a young woman. 2012 GET IT
Times cited: 2
Effect of hypoxia and hyperoxia on cerebral blood flow, blood oxygenation, and oxidative metabolism. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2012 Academic Article GET IT
Times cited: 160
Analysis of tumor metabolism reveals mitochondrial glucose oxidation in genetically diverse human glioblastomas in the mouse brain in vivo. Cell metabolism. 2012 Academic Article GET IT
Times cited: 456
Valproic acid enhances glucose transport in the cultured brain astrocytes of glucose transporter 1 heterozygous mice. Journal of child neurology. 2012 Academic Article GET IT
Times cited: 8
Glut1 deficiency (G1D): epilepsy and metabolic dysfunction in a mouse model of the most common human phenotype. Neurobiology of disease. 2012 Academic Article GET IT
Times cited: 56
Unsuspected stroke signals: from extravascular blood to vessel lumen. Neuroscience letters. 2012 Comment GET IT
Metabolism of [U-13 C]glucose in human brain tumors in vivo. NMR in biomedicine. 2012 Academic Article GET IT
Times cited: 300
Glucose metabolism via the pentose phosphate pathway, glycolysis and Krebs cycle in an orthotopic mouse model of human brain tumors. NMR in biomedicine. 2012 Academic Article GET IT
Times cited: 73
2-hydroxyglutarate detection by magnetic resonance spectroscopy in IDH-mutated patients with gliomas. Nature medicine. 2012 Academic Article GET IT
Times cited: 735
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 2011 Academic Article GET IT
Times cited: 160
Animal models of the human mind: is there anything like being autistic?. Neuroscience letters. 2011 Comment GET IT
High-resolution detection of ¹³C multiplets from the conscious mouse brain by ex vivo NMR spectroscopy. Journal of neuroscience methods. 2011 Academic Article GET IT
Times cited: 17
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects. Archives of neurology. 2011 Academic Article GET IT
Times cited: 70
Measurement of glycine in the human brain in vivo by 1H-MRS at 3 T: application in brain tumors. Magnetic resonance in medicine. 2011 Academic Article GET IT
Times cited: 51
Synaptic transporters are deceived if they think themselves free. Neuroscience letters. 2010 Comment GET IT
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis. Molecular genetics and metabolism. 2010 Review GET IT
Times cited: 118
Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 2009 GET IT
Times cited: 26
Protean phenotypic features of the A3243G mitochondrial DNA mutation. Archives of neurology. 2009 Academic Article GET IT
Times cited: 68
Epilepsy in inherited metabolic disorders. The neurologist. 2008 Review GET IT
Times cited: 35
Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M. 2008 GET IT
Times cited: 26
Preventing misfolded neuronal protein aggregation by molecular diplomacy. Neuroscience letters. 2008 Editorial Article GET IT
Times cited: 1
Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants. The Journal of biological chemistry. 2008 Academic Article GET IT
Times cited: 52
Brain glucose supply and the syndrome of infantile neuroglycopenia. Archives of neurology. 2007 Academic Article GET IT
Times cited: 50
[Neurological phenocopying]. Revista de neurologia. 2006 Academic Article GET IT
[Glucose transport hereditary diseases]. Medicina clinica. 2006 Academic Article GET IT
Times cited: 6
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. Archives of neurology. 2006 Review GET IT
Times cited: 118
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Archives of neurology. 2006 Academic Article GET IT
Times cited: 46
A mouse model for Glut-1 haploinsufficiency. Human molecular genetics. 2006 Academic Article GET IT
Times cited: 170
Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Academic Article GET IT
Times cited: 270
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. Annals of neurology. 2005 Academic Article GET IT
Times cited: 310
[Progresses in studies on the glucose transporter deficiency syndrome]. Zhonghua er ke za zhi = Chinese journal of pediatrics. 2004 Academic Article GET IT
Times cited: 1
Fever, molecular excitability and epilepsy. Neuroscience letters. 2004 Academic Article GET IT
GLUT1 deficiency and other glucose transporter diseases. European journal of endocrinology. 2004 Review GET IT
Times cited: 129
[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]. Revista de neurologia. 2004 Review GET IT
Times cited: 9
Rectal biopsy in the diagnosis of neuronal intranuclear hyaline inclusion disease. 2004 GET IT
Times cited: 23
Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency. The Journal of biological chemistry. 2003 Academic Article GET IT
Times cited: 15
[Cerebral palsy: prenatal risk factors]. Revista de neurologia. 2003 Review GET IT
Times cited: 14
Imaging the metabolic footprint of Glut1 deficiency on the brain. Annals of neurology. 2002 Academic Article GET IT
Times cited: 140
Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer. The Journal of biological chemistry. 2002 Academic Article GET IT
Times cited: 28
Glucose transporter protein syndromes. International review of neurobiology. 2002 Review GET IT
Times cited: 34
[Neonatal myasthenic syndromes]. Revista de neurologia. 2002 Review GET IT
Times cited: 3
Poor school and cognitive functioning with silent cerebral infarcts and sickle cell disease. Neurology. 2001 Academic Article GET IT
Times cited: 232
The intrinsic electrostatic potential and the intermediate ring of charge in the acetylcholine receptor channel. The Journal of general physiology. 2000 Academic Article GET IT
Times cited: 51
Delimiting the binding site for quaternary ammonium lidocaine derivatives in the acetylcholine receptor channel. The Journal of general physiology. 1998 Academic Article GET IT
Times cited: 35
State-dependent accessibility and electrostatic potential in the channel of the acetylcholine receptor. Inferences from rates of reaction of thiosulfonates with substituted cysteines in the M2 segment of the alpha subunit. The Journal of general physiology. 1998 Academic Article GET IT
Times cited: 106
Contribution of the NH2 terminus of Kv2.1 to channel activation. The American journal of physiology. 1997 Academic Article GET IT
Times cited: 28
Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels. Biophysical journal. 1995 Academic Article GET IT
Times cited: 46
Functional role of a conserved aspartate in the external mouth of voltage-gated potassium channels. Biophysical journal. 1995 Academic Article GET IT
Times cited: 41
K+ pore structure revealed by reporter cysteines at inner and outer surfaces. Neuron. 1995 Academic Article GET IT
Times cited: 102

more ...

less ...

Research

Sort by

Co-investigator Network

Funding awarded

Mechanisms of motor superperformance awarded by National Institute of Neurological Disorders & Stroke Principal Investigator 2024 - 2029
Brain glucose deficiency: mechanisms and modulation awarded by National Institute of Neurological Disorders & Stroke Principal Investigator 2024 - 2028

more ...

less ...

Background

education and training

Ph.D., Baylor College of Medicine 1995
M.D., University of Granada School of Medicine 1990

Contact

full name

Juan M. Pascual

primary email

webpage

College of Arts and Sciences
Clinical Profile

VIVO Weill Cornell Medical College

Juan M. Pascual Professor of Pediatrics (Pending Appointment at Rank)

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email

webpage

Phone

Publications

selected publications

Research

Funding awarded

Background

education and training

Contact

full name

primary email

webpage