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
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Dohrn MF et al.
Annals of Clinical and Translational Neurology, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1
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
ATP1A1 mutations cause intermediate Charcot-Marie-Tooth disease.
He J et al.
Human Mutation, 2019
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