Associated Papers
Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.
Haq IU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.
Akkuratov EE et al.
Brain : a Journal of Neurology, 2025
Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.
Haq IU et al.
Parkinsonism & Related Disorders, 2025
Decoding the Alphabet Soup: A Practical Guide to Genetic Testing in Hyperkinetic Movement Disorders.
Del Gamba C et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Genetic Update and Treatment for Dystonia.
Koptielow J et al.
International Journal of Molecular Sciences, 2024
ATP1A3-Associated Paroxysmal Dystonia.
Ledoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.
Williams L et al.
Parkinsonism & Related Disorders, 2023
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Alyamani SA et al.
Neurosciences (riyadh, Saudi Arabia), 2023
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
Molecular and clinical characteristics of ATP1A3-related diseases.
Li Y et al.
Frontiers in Neurology, 2022
ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.
Yu L et al.
Frontiers in Aging Neuroscience, 2022
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Smith RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Combined dystonias: clinical and genetic updates.
Weissbach A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Salles PA et al.
Frontiers in Neurology, 2021
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
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH et al.
Human Genetics, 2020
The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.
Yuan Y et al.
Neuro-degenerative Diseases, 2020
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E et al.
Neurobiology of Disease, 2019
Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Haq IU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.
Balint B et al.
Movement Disorders Clinical Practice, 2019
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3.
Sweadner KJ et al.
Neurology. Genetics, 2019
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T et al.
Cerebellum (london, England), 2018
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.
Hayashida T et al.
Brain & Development, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Stagnaro M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Failure of pallidal deep brain stimulation in DYT12-ATP1A3 dystonia.
Albanese A et al.
Parkinsonism & Related Disorders, 2017
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.
Kirshenbaum GS et al.
Journal of Neurogenetics, 2016
The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.
Kinoshita PF et al.
Frontiers in Physiology, 2016
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
Characterization of cognitive deficits in mice with an alternating hemiplegia-linked mutation.
Kirshenbaum GS et al.
Behavioral Neuroscience, 2015
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Paciorkowski AR et al.
Epilepsia, 2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT et al.
Pediatric Neurology, 2015
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome.
Arai E et al.
International Journal of Cancer, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H et al.
The Lancet. Neurology, 2012
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
Barbano RL et al.
Parkinsonism & Related Disorders, 2012