Associated Papers
Domain-specific mutations in Na+/K+-ATPase α subunit differentially regulate sleep and circadian rhythms in Drosophila.
Chen W et al.
Experimental Neurology, 2026
Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.
Spontarelli Fruit K et al.
Neurology. Genetics, 2025
Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures.
Yuan Y et al.
Neural Regeneration Research, 2025
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.
Cinarli Yuksel F et al.
Journal of Neurology, 2023
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Dohrn MF et al.
Neurology, 2022
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED et al.
American Journal of Physiology. Cell Physiology, 2021
ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features.
Lin Z et al.
Frontiers in Pediatrics, 2021
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
Sweadner KJ et al.
Neurology. Genetics, 2019
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P et al.
American Journal of Human Genetics, 2018
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