메뉴 건너뛰기




Volumn 27, Issue 14, 2012, Pages 1829-1830

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CARBIDOPA PLUS LEVODOPA;

EID: 84871789737     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25199     Document Type: Letter
Times cited : (12)

References (7)
  • 1
    • 77954104112 scopus 로고    scopus 로고
    • Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
    • Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 2010; 31: 763-780.
    • (2010) Hum Mutat , vol.31 , pp. 763-780
    • Nuytemans, K.1    Theuns, J.2    Cruts, M.3    Van Broeckhoven, C.4
  • 2
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich A, Benet-Pages A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011; 89: 168-175.
    • (2011) Am J Hum Genet , vol.89 , pp. 168-175
    • Zimprich, A.1    Benet-Pages, A.2    Struhal, W.3
  • 3
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • Ramirez A, Heimbach A, Grundemann J, et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 2006; 38: 1184-1191.
    • (2006) Nat Genet , vol.38 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3
  • 4
    • 0242300619 scopus 로고    scopus 로고
    • alpha-Synuclein locus triplication causes Parkinson's disease
    • Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003; 302: 841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 5
    • 4644290985 scopus 로고    scopus 로고
    • Alpha-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin MC, Kachergus J, Roumier C, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 2004; 364: 1167-1169.
    • (2004) Lancet , vol.364 , pp. 1167-1169
    • Chartier-Harlin, M.C.1    Kachergus, J.2    Roumier, C.3
  • 6
    • 70449841367 scopus 로고    scopus 로고
    • Expanding the clinical phenotype of SNCA duplication carriers
    • Nishioka K, Ross OA, Ishii K, et al. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord 2009; 24: 1811-1819.
    • (2009) Mov Disord , vol.24 , pp. 1811-1819
    • Nishioka, K.1    Ross, O.A.2    Ishii, K.3
  • 7
    • 42249115274 scopus 로고    scopus 로고
    • Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia
    • Ikeuchi T, Kakita A, Shiga A, et al. Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. Arch Neurol 2008; 65: 514-519.
    • (2008) Arch Neurol , vol.65 , pp. 514-519
    • Ikeuchi, T.1    Kakita, A.2    Shiga, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.