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
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.
Medrxiv : the Preprint Server for Health Sciences, 2024
Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.
Teov B et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2023
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
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C et al.
Journal of Neurology, 2020
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