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Volumn 5, Issue 4, 2009, Pages 192-194

A novel PANK2 mutation in a patient with atypical pantothenate-kinase-associated neurodegeneration presenting with adult-onset parkinsonism

Author keywords

Adult onset parkinsonism; Neurodegeneration with brain iron accumulation; Pantothenate kinase; Pantothenate kinase associated neurodegeneration

Indexed keywords


EID: 79951899462     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2009.5.4.192     Document Type: Article
Times cited : (28)

References (8)
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  • 4
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    • Clinical heterogeneity of neu-rodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration
    • Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neu-rodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord 2004;19:36-42.
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    • Thomas, M.1    Hayflick, S.J.2    Jankovic, J.3
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    • Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13
    • Taylor TD, Litt M, Kramer P, Pandolfo M, Angelini L, Nardocci N, et al. Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13. Nat Genet 1996;14:479-481.
    • (1996) Nat Genet , vol.14 , pp. 479-481
    • Taylor, T.D.1    Litt, M.2    Kramer, P.3    Pandolfo, M.4    Angelini, L.5    Nardocci, N.6
  • 6
    • 32044455822 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
    • Hartig MB, Hörtnagel K, Garavaglia B, Zorzi G, Kmiec T, Klopstock T, et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Ann Neurol 2006;59:248-256.
    • (2006) Ann Neurol , vol.59 , pp. 248-256
    • Hartig, M.B.1    Hörtnagel, K.2    Garavaglia, B.3    Zorzi, G.4    Kmiec, T.5    Klopstock, T.6
  • 8
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    • Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neuro-degeneration
    • Antonini A, Goldwurn S, Benti R, Prokisch H, Ebhardt M, Cilia R, et al. Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neuro-degeneration. Mov Disord 2006;21:417-418.
    • (2006) Mov Disord , vol.21 , pp. 417-418
    • Antonini, A.1    Goldwurn, S.2    Benti, R.3    Prokisch, H.4    Ebhardt, M.5    Cilia, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.