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
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.
Matsell E et al.
Disease Models & Mechanisms, 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
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.
Ortigoza-Escobar JD
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
37810989 (PubMed )
Supplement: tohm-13-1-801-s4.xlsx › Hoja1
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
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders.
Choi H et al.
Human Mutation, 2019
Disruption of Tmem30a results in cerebellar ataxia and degeneration of Purkinje cells.
Yang Y et al.
Cell Death & Disease, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
McMillan HJ et al.
Orphanet Journal of Rare Diseases, 2018
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
Loss of Tmem30a leads to photoreceptor degeneration.
Zhang L et al.
Scientific Reports, 2017
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Martín-Hernández E et al.
Neurogenetics, 2016
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