Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
Author:
Funder
Lundbeckfonden
Deutsche Forschungsgemeinschaft
Georg-August-Universität Göttingen
Publisher
Elsevier BV
Subject
Neurology
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1. In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism;Frontiers in Neuroscience;2024-07-31
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3. The lethal homozygous variant in the ATP1A2 gene is associated with FARIMPD syndrome phenotypes in newborns;Neurogenetics;2024-07-24
4. Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl;Journal of Neurology;2024-06-05
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