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Volumn 28, Issue 10, 2013, Pages 1457-1459

The multiple faces of the ATP1A3-related dystonic movement disorder

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT DISEASE; ATP1A3 GENE; CHILDHOOD DISEASE; DYSTONIC DISORDER; GENE; HUMAN; LETTER; MUTATION; PAROXYSMAL DYSTONIA; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 84884727929     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25396     Document Type: Letter
Times cited : (61)

References (8)
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    • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
    • Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-1034.
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    • Heinzen, E.L.1    Swoboda, K.J.2    Hitomi, Y.3
  • 2
    • 84865134117 scopus 로고    scopus 로고
    • 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, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11:764-773.
    • (2012) Lancet Neurol. , vol.11 , pp. 764-773
    • Rosewich, H.1    Thiele, H.2    Ohlenbusch, A.3
  • 3
    • 3242700773 scopus 로고    scopus 로고
    • 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
  • 4
    • 78649808014 scopus 로고    scopus 로고
    • Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
    • Panagiotakaki E, Gobbi G, Neville B, et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain. 2010;133:3598-3610.
    • (2010) Brain. , vol.133 , pp. 3598-3610
    • Panagiotakaki, E.1    Gobbi, G.2    Neville, B.3
  • 5
    • 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;130:828-835.
    • (2007) Brain. , vol.130 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    de Carvalho Aguiar, P.3
  • 6
    • 50049119083 scopus 로고    scopus 로고
    • [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism
    • Zanotti-Fregonara P, Vidailhet M, Kas A, et al. [123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism. J Neurol Sci. 2008;273:148-151.
    • (2008) J Neurol Sci. , vol.273 , pp. 148-151
    • Zanotti-Fregonara, P.1    Vidailhet, M.2    Kas, A.3
  • 8
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    • ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia
    • Brashear A, Mink JW, Hill DF, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012;54:1065-1067.
    • (2012) Dev Med Child Neurol. , vol.54 , pp. 1065-1067
    • Brashear, A.1    Mink, J.W.2    Hill, D.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.