Associated Papers
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP et al.
Neurogenetics, 2024
Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum.
Heidari E et al.
Human Mutation, 2021
A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.
Mohamadian M et al.
Journal of Clinical Laboratory Analysis, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C et al.
Journal of Neurology, 2020
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Choi H et al.
Human Mutation, 2019
Asparagine 905 of the mammalian phospholipid flippase ATP8A2 is essential for lipid substrate-induced activation of ATP8A2 dephosphorylation.
Mikkelsen SA et al.
The Journal of Biological Chemistry, 2019
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Alsahli S et al.
Journal of Central Nervous System Disease, 2018
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