246 related articles for article (PubMed ID: 22924536)
1. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
Brashear A; Mink JW; Hill DF; Boggs N; McCall WV; Stacy MA; Snively B; Light LS; Sweadner KJ; Ozelius LJ; Morrison L
Dev Med Child Neurol; 2012 Nov; 54(11):1065-7. PubMed ID: 22924536
[TBL] [Abstract][Full Text] [Related]
2. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
Zhang CL; Yin F; He F; Gai N; Shi ZQ; Peng J
Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):288-293. PubMed ID: 28441826
[No Abstract] [Full Text] [Related]
3. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT; Newcomb TM; Swoboda KJ
Pediatr Neurol; 2015 Jan; 52(1):56-64. PubMed ID: 25447930
[TBL] [Abstract][Full Text] [Related]
4. ATP1A3 Mutation in Adult Rapid-Onset Ataxia.
Sweadner KJ; Toro C; Whitlow CT; Snively BM; Cook JF; Ozelius LJ; Markello TC; Brashear A
PLoS One; 2016; 11(3):e0151429. PubMed ID: 26990090
[TBL] [Abstract][Full Text] [Related]
5. The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.
Yuan Y; Ran L; Lei L; Zhu H; Zhu X; Chen H
Neurodegener Dis; 2020; 20(2-3):84-89. PubMed ID: 33326973
[TBL] [Abstract][Full Text] [Related]
6. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brashear A; Dobyns WB; de Carvalho Aguiar P; Borg M; Frijns CJ; Gollamudi S; Green A; Guimaraes J; Haake BC; Klein C; Linazasoro G; Münchau A; Raymond D; Riley D; Saunders-Pullman R; Tijssen MA; Webb D; Zaremba J; Bressman SB; Ozelius LJ
Brain; 2007 Mar; 130(Pt 3):828-35. PubMed ID: 17282997
[TBL] [Abstract][Full Text] [Related]
7. Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene.
Ganesh A; Sivakumar S; Manokaran R; Narasimhan U
BMJ Case Rep; 2021 Aug; 14(8):. PubMed ID: 34413044
[TBL] [Abstract][Full Text] [Related]
8. New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.
Barbano RL; Hill DF; Snively BM; Light LS; Boggs N; McCall WV; Stacy M; Ozelius L; Sweadner KJ; Brashear A
Parkinsonism Relat Disord; 2012 Jul; 18(6):737-41. PubMed ID: 22534615
[TBL] [Abstract][Full Text] [Related]
9. Characterization of Atp1a3 mutant mice as a model of rapid-onset dystonia with parkinsonism.
DeAndrade MP; Yokoi F; van Groen T; Lingrel JB; Li Y
Behav Brain Res; 2011 Jan; 216(2):659-65. PubMed ID: 20850480
[TBL] [Abstract][Full Text] [Related]
10. Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.
Moya-Mendez ME; Madden LL; Ruckart KW; Downes KM; Cook JF; Snively BM; Brashear A; Haq IU
J Clin Neurosci; 2020 Nov; 81():133-138. PubMed ID: 33222902
[TBL] [Abstract][Full Text] [Related]
11. A novel ATP1A3 mutation with unique clinical presentation.
Rosewich H; Baethmann M; Ohlenbusch A; Gärtner J; Brockmann K
J Neurol Sci; 2014 Jun; 341(1-2):133-5. PubMed ID: 24713507
[TBL] [Abstract][Full Text] [Related]
12. A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.
Wenzel GR; Lohmann K; Kühn AA
Parkinsonism Relat Disord; 2017 Apr; 37():120-122. PubMed ID: 28214263
[No Abstract] [Full Text] [Related]
13. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.
Yano ST; Silver K; Young R; DeBrosse SD; Ebel RS; Swoboda KJ; Acsadi G
Pediatr Neurol; 2017 Aug; 73():101-105. PubMed ID: 28647130
[TBL] [Abstract][Full Text] [Related]
14. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
Lee JY; Gollamudi S; Ozelius LJ; Kim JY; Jeon BS
Mov Disord; 2007 Sep; 22(12):1808-9. PubMed ID: 17595045
[TBL] [Abstract][Full Text] [Related]
15. A novel presentation of an ATP1A3 gene mutation - case report and literature review.
Kostopoulou E; Avgeri A; Apostolou MI; Tzifas S; Dimitriou G
Eur Rev Med Pharmacol Sci; 2022 Feb; 26(4):1108-1113. PubMed ID: 35253165
[TBL] [Abstract][Full Text] [Related]
16. Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Lazarov E; Hillebrand M; Schröder S; Ternka K; Hofhuis J; Ohlenbusch A; Barrantes-Freer A; Pardo LA; Fruergaard MU; Nissen P; Brockmann K; Gärtner J; Rosewich H
Neurobiol Dis; 2020 Sep; 143():105012. PubMed ID: 32653672
[TBL] [Abstract][Full Text] [Related]
17. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T; Graziola F; Nicita F; Travaglini L; Stregapede F; Valeriani M; Curatolo P; Bertini E; Vigevano F; Capuano A
Cerebellum; 2018 Aug; 17(4):489-493. PubMed ID: 29397530
[TBL] [Abstract][Full Text] [Related]
18. Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M; Rydzanicz M; Szymanska K; Pieniawska-Smiech K; Lewandowicz-Uszynska A; Chruszcz J; Benben L; Kuzior-Plawiak M; Szyld P; Jakubiak A; Szenborn L; Ploski R; Smigiel R
Mol Genet Genomic Med; 2021 Sep; 9(9):e1772. PubMed ID: 34342181
[TBL] [Abstract][Full Text] [Related]
19. Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia.
Nomura S; Kashiwagi M; Tanabe T; Oba C; Yanagi K; Kaname T; Okamoto N; Ashida A
Brain Dev; 2021 Apr; 43(4):566-570. PubMed ID: 33451880
[TBL] [Abstract][Full Text] [Related]
20. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.
Lacombe D; Van-Gils J; Lebrun M; Trimouille A; Michaud V; Cabet S; Chateil JF; Pedespan JM; Bar C; Lesca G
Brain Dev; 2022 Sep; 44(8):567-570. PubMed ID: 35623960
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]