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Transient Electrical Currents Mediated by the Na+/K+-ATPase: A Tour from Basic Biophysics to Human Diseases

Biophysical journal, 2020-07, Vol.119 (2), p.236-242

2020

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Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Pediatric neurology, 2017-08, Vol.73, p.101-105

2017

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Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet

Pediatric neurology, 2024-11, Vol.160, p.11-17

2024

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Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

Genes, 2021-10, Vol.12 (11), p.1669

2021

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ATP1A1-linked diseases require a malfunctioning protein product from one allele

Biochimica et biophysica acta. Molecular cell research, 2024-01, Vol.1871 (1), p.119572-119572, Article 119572

2024

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain (London, England : 1878), 2023-08, Vol.146 (8), p.3162-3171

2023

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ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever

Neurology. Genetics, 2024-06, Vol.10 (3), p.e200150-e200150

2024

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Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine Open, 2023, Vol.1 (1), p.100832, Article 100832

2023

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The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report

BMC cancer, 2020-03, Vol.20 (1), p.256-256, Article 256

2020

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Eye closure sensitivity as a novel EEG marker of MERRF

Epilepsia open, 2024-10, Vol.9 (5), p.2000-2002

2024

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P363: Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function

Genetics in Medicine Open, 2023, Vol.1 (1), p.100391, Article 100391

2023

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Buzz Juice: Neurological sequelae of synthetic cannabinoids

Journal of clinical neuroscience, 2017-03, Vol.37, p.43-43

2017

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phage-encoded inhibitor of Escherichia coli DNA replication targets the DNA polymerase clamp loader

Molecular microbiology, 2011-03, Vol.79 (5), p.1325-1338

2011

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Comparative description of the mRNA expression profile of Na+/K+‐ATPase isoforms in adult mouse nervous system

Journal of comparative neurology (1911), 2022-02, Vol.530 (3), p.627-647

2022

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Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III

Biophysical journal, 2023-02, Vol.122 (3), p.529a-529a

2023

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eP291: Disease characterization in sodium-potassium ATPases by reverse genetics in humans

Genetics in medicine, 2022-03, Vol.24 (3), p.S184-S185

2022

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Diaspora, a large family of Ty3-gypsy retrotransposons in Glycine max, is an envelope-less member of an endogenous plant retrovirus lineage

BMC evolutionary biology, 2005-05, Vol.5 (1), p.30, Article 30

2005

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Atypical phenotypes caused by the ATP1A3 variant p.P775L (1946)

Neurology, 2020-04, Vol.94 (15_supplement)

2020

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Disease mutations of human α3 Na + /K + -ATPase define extracellular Na + binding/occlusion kinetics at ion binding site III

PNAS nexus, 2022-09, Vol.1 (4), p.pgac205-pgac205

2022

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Disease mutations of human [alpha]3 [Na.sup.+]/[K.sup.+]-ATPase define extracellular [Na.sup.+] binding/occlusion kinetics at ion binding site III

PNAS nexus, 2022-09, Vol.1 (4)

2022

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Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

Molecular genetics and metabolism, 2021-04, Vol.132, p.S1-S2

2021

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OP002 - Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

Molecular genetics and metabolism, 2021-04, Vol.132, p.S1-S2

2021

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Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

Prenatal diagnosis, 2021-05, Vol.41 (6), p.778-790

2021

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4q21 microdeletion in a patient with epilepsy and brain malformations

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1409-1413

2015

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Estimation of direction of attention using EEG and out-of-head sound localization

2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society, 2011, Vol.2011, p.7417-7420

2011

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Transient Electrical Currents Mediated by the Na+/K+-ATPase: A Tour from Basic Biophysics to Human Diseases

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Categorizing Monogenic Epilepsies by Genetic Mechanisms May Predict Efficacy of the Ketogenic Diet

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes

ATP1A1-linked diseases require a malfunctioning protein product from one allele

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

The first pancreatic neuroendocrine tumor in Li-Fraumeni syndrome: a case report

Eye closure sensitivity as a novel EEG marker of MERRF

P363: Electrophysiological functional studies of an ATP1A3 variant in an individual with a relatively mild neurological phenotype reveal loss of function

Buzz Juice: Neurological sequelae of synthetic cannabinoids

phage-encoded inhibitor of Escherichia coli DNA replication targets the DNA polymerase clamp loader

Comparative description of the mRNA expression profile of Na+/K+‐ATPase isoforms in adult mouse nervous system

Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III

eP291: Disease characterization in sodium-potassium ATPases by reverse genetics in humans

Diaspora, a large family of Ty3-gypsy retrotransposons in Glycine max, is an envelope-less member of an endogenous plant retrovirus lineage

Atypical phenotypes caused by the ATP1A3 variant p.P775L (1946)

Disease mutations of human α3 Na + /K + -ATPase define extracellular Na + binding/occlusion kinetics at ion binding site III

Disease mutations of human [alpha]3 [Na.sup.+]/[K.sup.+]-ATPase define extracellular [Na.sup.+] binding/occlusion kinetics at ion binding site III

Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

OP002 - Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

Prenatal diagnosis of diencephalic‐mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes

4q21 microdeletion in a patient with epilepsy and brain malformations

Estimation of direction of attention using EEG and out-of-head sound localization

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