BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 33451880)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. [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]  

  • 5. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
    Haq IU; Snively BM; Sweadner KJ; Suerken CK; Cook JF; Ozelius LJ; Miller C; McCall WV; Whitlow CT; Brashear A
    Mov Disord; 2019 Oct; 34(10):1528-1536. PubMed ID: 31361359
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
    Rosewich H; Thiele H; Ohlenbusch A; Maschke U; Altmüller J; Frommolt P; Zirn B; Ebinger F; Siemes H; Nürnberg P; Brockmann K; Gärtner J
    Lancet Neurol; 2012 Sep; 11(9):764-73. PubMed ID: 22850527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
    de Carvalho Aguiar P; Sweadner KJ; Penniston JT; Zaremba J; Liu L; Caton M; Linazasoro G; Borg M; Tijssen MA; Bressman SB; Dobyns WB; Brashear A; Ozelius LJ
    Neuron; 2004 Jul; 43(2):169-75. PubMed ID: 15260953
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
    Wei W; Zheng XF; Ruan DD; Gan YM; Zhang YP; Chen Y; Lin XF; Tang FQ; Luo JW; Li YF
    Neurol Sci; 2022 Apr; 43(4):2555-2563. PubMed ID: 34783933
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
    Boelman C; Lagman-Bartolome AM; MacGregor DL; McCabe J; Logan WJ; Minassian BA
    Pediatr Neurol; 2014 Dec; 51(6):850-3. PubMed ID: 25439493
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
    Hully M; Ropars J; Hubert L; Boddaert N; Rio M; Bernardelli M; Desguerre I; Cormier-Daire V; Munnich A; de Lonlay P; Reilly L; Besmond C; Bahi-Buisson N
    Neurogenetics; 2017 Jan; 18(1):23-28. PubMed ID: 27726050
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
    Kanemasa H; Fukai R; Sakai Y; Torio M; Miyake N; Lee S; Ono H; Akamine S; Nishiyama K; Sanefuji M; Ishizaki Y; Torisu H; Saitsu H; Matsumoto N; Hara T
    BMC Neurol; 2016 Sep; 16():174. PubMed ID: 27634470
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings.
    Oblak AL; Hagen MC; Sweadner KJ; Haq I; Whitlow CT; Maldjian JA; Epperson F; Cook JF; Stacy M; Murrell JR; Ozelius LJ; Brashear A; Ghetti B
    Acta Neuropathol; 2014 Jul; 128(1):81-98. PubMed ID: 24803225
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cognitive impairment in rapid-onset dystonia-parkinsonism.
    Cook JF; Hill DF; Snively BM; Boggs N; Suerken CK; Haq I; Stacy M; McCall WV; Ozelius LJ; Sweadner KJ; Brashear A
    Mov Disord; 2014 Mar; 29(3):344-50. PubMed ID: 24436111
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
    Huang D; Song X; Ma J; Li X; Guo Y; Li M; Luo H; Fang Z; Yang C; Xie L; Jiang L
    Eur J Pediatr; 2023 Feb; 182(2):825-836. PubMed ID: 36484864
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPase.
    Cannon SC
    Neuron; 2004 Jul; 43(2):153-4. PubMed ID: 15260948
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.