Associated Papers
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
Transient receptor potential vanilloid channel 2 contributes to multi-modal endoplasmic reticulum and perinuclear space dilations that can also be observed in prion-infected mice.
Zhao W et al.
Acta Neuropathologica, 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
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
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
Stregapede F et al.
Clinical Genetics, 2020
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Lassuthova P et al.
American Journal of Human Genetics, 2018
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