Associated Papers
Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.
Pastore SF et al.
Biological Psychiatry Global Open Science, 2025
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
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann KP et al.
American Journal of Human Genetics, 2018
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