메뉴 건너뛰기




Volumn 83, Issue 9, 2014, Pages 861-863

Clinical/scientific notes

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATING HEMIPLEGIA OF CHILDHOOD; ANARTHRIA; APATHY; AREFLEXIA; ATAXIA; ATP1A3 GENE; BRADYKINESIA; CAPOS SYNDROME; CASE REPORT; CEREBELLAR ATAXIA; CEREBROSPINAL FLUID; CHILD; CHILDHOOD DISEASE; CLINICAL FEATURE; CONVERGENT STRABISMUS; DYSARTHRIA; DYSTONIA; ELECTROENCEPHALOGRAM; EVOKED VISUAL RESPONSE; FOOT MALFORMATION; GENE; HEARING AID; HEMIPLEGIA; HUMAN; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOTATIC REFLEX; NERVE CONDUCTION; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; PARESIS; PARKINSONISM; PERCEPTION DEAFNESS; PES CAVUS; PHENOTYPE; PRIORITY JOURNAL; PROPRIOCEPTION; RAPID ONSET DYSTONIA PARKINSONISM; SCHOOL CHILD; SYNDROME; VISUAL ACUITY; VISUAL IMPAIRMENT; FEMALE; GENETICS; PATHOLOGICAL REFLEX; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

EID: 84921978822     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000735     Document Type: Note
Times cited : (42)

References (7)
  • 1
    • 3242700773 scopus 로고    scopus 로고
    • Mutations in the Na1/K1-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
    • de Carvalho Aguiar P, Sweadner KJ, Penniston JT, 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 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; 130:828-835.
    • (2007) Brain , vol.130 , pp. 828-835
    • Brashear, A.1    Dobyns, W.B.2    De Carvalho Aguiar, P.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
    • 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
  • 5
    • 84898729032 scopus 로고    scopus 로고
    • The expanding clinical and genetic spectrum of ATP1A3-related disorders
    • Rosewich H, Ohlenbusch A, Huppke P, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology 2014;82:945-955.
    • (2014) Neurology , vol.82 , pp. 945-955
    • Rosewich, H.1    Ohlenbusch, A.2    Huppke, P.3
  • 7
    • 0029870946 scopus 로고    scopus 로고
    • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): A new syndrome
    • Nicolaides P, Appleton RE, Fryer A. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): A new syndrome. J Med Genet 1996;33:419-421.
    • (1996) J Med Genet , vol.33 , pp. 419-421
    • Nicolaides, P.1    Appleton, R.E.2    Fryer, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.