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
Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.
Okumura G et al.
Internal Medicine (tokyo, Japan), 2024
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
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