Associated Papers
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Wang W et al.
Frontiers in Cell and Developmental Biology, 2021
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.
Kim WJ et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
The Korean undiagnosed diseases program: lessons from a one-year pilot project.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L et al.
Plos One, 2015
25996915 (PubMed )
Supplement: pone.0127045.s001.pdf
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