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Volumn 10, Issue 1, 2011, Pages 24-25

Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: Another genetic twist

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; COCAINE; DOPAMINE; DOPAMINE TRANSPORTER; GLYCINE TRANSPORTER 1; HOMOVANILLIC ACID; METHYLPHENIDATE; NEUROTRANSMITTER; PRESYNAPTIC RECEPTOR;

EID: 78650026598     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(10)70280-5     Document Type: Note
Times cited : (2)

References (10)
  • 2
    • 67349171862 scopus 로고    scopus 로고
    • The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism
    • Pons R The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism. J Inherit Metab Dis 2010, 32:321-332.
    • (2010) J Inherit Metab Dis , vol.32 , pp. 321-332
    • Pons, R.1
  • 3
    • 67651007160 scopus 로고    scopus 로고
    • Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
    • Kurian MA, Zhen J, Cheng S-Y, et al. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest 2009, 119:1595-1603.
    • (2009) J Clin Invest , vol.119 , pp. 1595-1603
    • Kurian, M.A.1    Zhen, J.2    Cheng, S.-Y.3
  • 4
    • 67651007567 scopus 로고    scopus 로고
    • Infantile parkinsonism-dystonia: a dopamine "transportopathy"
    • Blackstone C Infantile parkinsonism-dystonia: a dopamine "transportopathy" J Clin Invest 2009, 119:1455-1458.
    • (2009) J Clin Invest , vol.119 , pp. 1455-1458
    • Blackstone, C.1
  • 5
    • 78650021942 scopus 로고    scopus 로고
    • Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort study
    • published online Nov 26.
    • Kurian MA, Li Y, Zhen J, et al. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort study. Lancet Neurol 2010, published online Nov 26. 10.1016/S1474-4422(10)70269-6.
    • (2010) Lancet Neurol
    • Kurian, M.A.1    Li, Y.2    Zhen, J.3
  • 6
    • 2442674046 scopus 로고    scopus 로고
    • Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF
    • Assmann BE, Robinson RO, Surtees RA, et al. Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology 2004, 62:1872-1874.
    • (2004) Neurology , vol.62 , pp. 1872-1874
    • Assmann, B.E.1    Robinson, R.O.2    Surtees, R.A.3
  • 8
    • 77957100232 scopus 로고    scopus 로고
    • Molecular imaging of the dopamine transporter
    • Varrone A, Halldin C Molecular imaging of the dopamine transporter. J Nucl Med 2010, 51:1331-1334.
    • (2010) J Nucl Med , vol.51 , pp. 1331-1334
    • Varrone, A.1    Halldin, C.2
  • 9
    • 17444395169 scopus 로고    scopus 로고
    • The dopamine transporter: role in neurotoxicology and human disease
    • Bannon MJ The dopamine transporter: role in neurotoxicology and human disease. Toxicol Appl Pharmacol 2005, 204:355-360.
    • (2005) Toxicol Appl Pharmacol , vol.204 , pp. 355-360
    • Bannon, M.J.1
  • 10
    • 77949281313 scopus 로고    scopus 로고
    • Regulation of the dopamine transporter: aspects relevant to psychostimulant drugs of abuse
    • Schmitt KC, Reith ME Regulation of the dopamine transporter: aspects relevant to psychostimulant drugs of abuse. Ann NY Acad Sci 2010, 1187:316-340.
    • (2010) Ann NY Acad Sci , vol.1187 , pp. 316-340
    • Schmitt, K.C.1    Reith, M.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.