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Volumn 73, Issue 5, 2009, Pages 400-401

Rapid-onset dystonia-parkinsonism in a child with a novel ATP1A3 gene mutation

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ASPARAGINE; ASPARTIC ACID; BENZATROPINE; FLUORODEOXYGLUCOSE F 18; LEVODOPA; PERGOLIDE; PRAMIPEXOLE; PROTEIN ATP1A3; TRIHEXYPHENIDYL; UNCLASSIFIED DRUG;

EID: 68249156651     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b04acd     Document Type: Article
Times cited : (54)

References (7)
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    • Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 2004;43:169-175.
    • (2004) Neuron , vol.43 , pp. 169-175
    • de Carvalho Aguiar, P.1    Sweadner, K.J.2    Penniston, J.T.3
  • 2
    • 33947131242 scopus 로고    scopus 로고
    • The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
    • Brashear A, Dobyns WB, de Carvalho Aguiar P, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007; 130(Pt 3):828-835.
    • (2007) Brain , vol.130 , Issue.PART 3 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    de Carvalho Aguiar, P.3
  • 4
    • 0034633655 scopus 로고    scopus 로고
    • Rapid-onset dystonia-parkinsonism: A clinical and genetic analysis of a new kindred
    • Pittock SJ, Joyce C, O'Keane V, et al. Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. Neurology 2000;55:991-995.
    • (2000) Neurology , vol.55 , pp. 991-995
    • Pittock, S.J.1    Joyce, C.2    O'Keane, V.3
  • 5
    • 37249088547 scopus 로고    scopus 로고
    • Crystal structure of the sodium-potassium pump
    • Morth JP, Pedersen BP, Toustrup-Jensen MS, et al. Crystal structure of the sodium-potassium pump. Nature 2007;450:1043-1049.
    • (2007) Nature , vol.450 , pp. 1043-1049
    • Morth, J.P.1    Pedersen, B.P.2    Toustrup-Jensen, M.S.3
  • 6
    • 0029774272 scopus 로고    scopus 로고
    • Amino acid substitutions in the rat Na+, K(+)-ATPase alpha 2-subunit alter the cation regulation of pump current expressed in HeLa cells
    • Yamamoto S, Kuntzweiler TA, Wallick ET, Sperelakis N, Yatani A. Amino acid substitutions in the rat Na+, K(+)-ATPase alpha 2-subunit alter the cation regulation of pump current expressed in HeLa cells. J Physiol 1996;495(Pt 3):733-742.
    • (1996) J Physiol , vol.495 , Issue.PART 3 , pp. 733-742
    • Yamamoto, S.1    Kuntzweiler, T.A.2    Wallick, E.T.3    Sperelakis, N.4    Yatani, A.5
  • 7
    • 0038188860 scopus 로고    scopus 로고
    • Alanine scanning mutagenesis of oxygen-containing amino acids in the transmembrane region of the Na,K-ATPase
    • Arguello JM, Whitis J, Lingrel JB. Alanine scanning mutagenesis of oxygen-containing amino acids in the transmembrane region of the Na,K-ATPase. Arch Biochem Biophys 1999;367:341-347.
    • (1999) Arch Biochem Biophys , vol.367 , pp. 341-347
    • Arguello, J.M.1    Whitis, J.2    Lingrel, J.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.