메뉴 건너뛰기




Volumn 82, Issue 6, 2014, Pages 468-469

ATP1A3 mutations: What is the phenotype?

Author keywords

[No Author keywords available]

Indexed keywords

FLUNARIZINE;

EID: 84895736198     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000113     Document Type: Editorial
Times cited : (10)

References (12)
  • 1
    • 3242700773 scopus 로고    scopus 로고
    • Mutations in the Na1/K1-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • de Carvalho AP, Sweadner K, Penniston J, et al. Mutations in the Na1/K1-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, A.P.1    Sweadner, K.2    Penniston, J.3
  • 2
    • 84865684547 scopus 로고    scopus 로고
    • 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.
    • (2012) Nat Genet , vol.44 , pp. 1030-1034
    • Heinzen, E.L.1    Swoboda, K.J.2    Hitomi, Y.3
  • 3
    • 84865134117 scopus 로고    scopus 로고
    • Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: A whole-exome sequencing geneidentification 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 geneidentification study. Lancet Neurol 2012;11:764-773.
    • (2012) Lancet Neurol , vol.11 , pp. 764-773
    • Rosewich, H.1    Thiele, H.2    Ohlenbusch, A.3
  • 4
    • 84884727929 scopus 로고    scopus 로고
    • The multiple faces of the ATP1A3-related dystonic movement disorder
    • Roubergue A, Roze E, Vuillaumier-Barrot S, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord 2013;28:1457-1459.
    • (2013) Mov Disord , vol.28 , pp. 1457-1459
    • Roubergue, A.1    Roze, E.2    Vuillaumier-Barrot, S.3
  • 6
    • 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 AP, 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, A.P.3
  • 7
    • 84867512555 scopus 로고    scopus 로고
    • Psychiatric disorders in rapid-onset dystonia-parkinsonism
    • Brashear A, Cook JF, Hill DF, et al. Psychiatric disorders in rapid-onset dystonia-parkinsonism. Neurology 2012; 79:1168-1173.
    • (2012) Neurology , vol.79 , pp. 1168-1173
    • Brashear, A.1    Cook, J.F.2    Hill, D.F.3
  • 8
    • 84867232035 scopus 로고    scopus 로고
    • 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
  • 9
    • 84862183805 scopus 로고    scopus 로고
    • New triggers and non-motor findings in a family with rapid-onset dystoniaparkinsonism
    • Barbano RL, Hill DF, Snively BM, et al. New triggers and non-motor findings in a family with rapid-onset dystoniaparkinsonism. Parkinsonism Relat Disord 2012;18:737-741.
    • (2012) Parkinsonism Relat Disord , vol.18 , pp. 737-741
    • Barbano, R.L.1    Hill, D.F.2    Snively, B.M.3
  • 10
    • 63149144583 scopus 로고    scopus 로고
    • Alternating hemiplegia of childhood: Early characteristics and evolution of a neurodevelopmental syndrome
    • Sweney MT, Silver K, Gerard-Blanluet M, et al. Alternating hemiplegia of childhood: Early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics 2009;123: E534-e541.
    • (2009) Pediatrics , vol.123
    • Sweney, M.T.1    Silver, K.2    Gerard-Blanluet, M.3
  • 11
    • 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
  • 12
    • 84895757872 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in alternating hemiplegia of childhood
    • Sasaki M, Ishii A, Saito Y, et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology 2014;82:482-490.
    • (2014) Neurology , vol.82 , pp. 482-490
    • Sasaki, M.1    Ishii, A.2    Saito, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.