메뉴 건너뛰기




Volumn 15, Issue 6, 2009, Pages 425-429

Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers

Author keywords

Controls; Heterozygous mutation; Hyperechogenicity; Parkin; Subtle signs

Indexed keywords

PARKIN;

EID: 67549146854     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2008.11.014     Document Type: Article
Times cited : (38)

References (21)
  • 1
  • 2
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: review and case studies
    • Hedrich K., Eskelson C., Wilmot B., Marder K., Harris J., Garrels J., et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 19 (2004) 1146-1157
    • (2004) Mov Disord , vol.19 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.3    Marder, K.4    Harris, J.5    Garrels, J.6
  • 3
    • 55349135922 scopus 로고    scopus 로고
    • Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3
    • Okubadejo N., Britton A., Crews C., Akinyemi R., Hardy J., Singleton A., et al. Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS ONE 3 (2008) e3421
    • (2008) PLoS ONE , vol.3
    • Okubadejo, N.1    Britton, A.2    Crews, C.3    Akinyemi, R.4    Hardy, J.5    Singleton, A.6
  • 4
    • 38349189730 scopus 로고    scopus 로고
    • Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls
    • Lesage S., Lohmann E., Tison F., Durif F., Durr A., and Brice A. Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls. J Med Genet 45 (2008) 43-46
    • (2008) J Med Genet , vol.45 , pp. 43-46
    • Lesage, S.1    Lohmann, E.2    Tison, F.3    Durif, F.4    Durr, A.5    Brice, A.6
  • 6
    • 33846833930 scopus 로고    scopus 로고
    • Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
    • Kay D.M., Moran D., Moses L., Poorkaj P., Zabetian C.P., Nutt J., et al. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 61 (2007) 47-54
    • (2007) Ann Neurol , vol.61 , pp. 47-54
    • Kay, D.M.1    Moran, D.2    Moses, L.3    Poorkaj, P.4    Zabetian, C.P.5    Nutt, J.6
  • 8
    • 42249091077 scopus 로고    scopus 로고
    • Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method
    • Wang Y., Clark L.N., Louis E.D., Mejia-Santana H., Harris J., Cote L.J., et al. Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 65 (2008) 467-474
    • (2008) Arch Neurol , vol.65 , pp. 467-474
    • Wang, Y.1    Clark, L.N.2    Louis, E.D.3    Mejia-Santana, H.4    Harris, J.5    Cote, L.J.6
  • 9
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K., Kann M., Lanthaler A.J., Dalski A., Eskelson C., Landt O., et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10 (2001) 1649-1656
    • (2001) Hum Mol Genet , vol.10 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3    Dalski, A.4    Eskelson, C.5    Landt, O.6
  • 10
    • 36148995473 scopus 로고    scopus 로고
    • Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles
    • Hagenah J.M., König I.R., Becker B., Hilker R., Kasten M., Hedrich K., et al. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol 254 (2007) 1407-1413
    • (2007) J Neurol , vol.254 , pp. 1407-1413
    • Hagenah, J.M.1    König, I.R.2    Becker, B.3    Hilker, R.4    Kasten, M.5    Hedrich, K.6
  • 11
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: predicting amino acid changes that affect protein function
    • Ng P.C., and Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
    • (2003) Nucleic Acids Res , vol.31 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 12
    • 0036229267 scopus 로고    scopus 로고
    • Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    • Kann M., Jacobs H., Mohrmann K., Schumacher K., Hedrich K., Garrels J., et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51 (2002) 621-625
    • (2002) Ann Neurol , vol.51 , pp. 621-625
    • Kann, M.1    Jacobs, H.2    Mohrmann, K.3    Schumacher, K.4    Hedrich, K.5    Garrels, J.6
  • 14
    • 33745099053 scopus 로고    scopus 로고
    • Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?
    • Hedrich K., Hagenah J., Djarmati A., Hiller A., Lohnau T., Lasek K., et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit?. Arch Neurol 63 (2006) 833-838
    • (2006) Arch Neurol , vol.63 , pp. 833-838
    • Hedrich, K.1    Hagenah, J.2    Djarmati, A.3    Hiller, A.4    Lohnau, T.5    Lasek, K.6
  • 15
    • 52649172321 scopus 로고    scopus 로고
    • Familial Parkinsonism with digenic parkin and PINK1 mutations
    • Funayama M., Li Y., Tsoi T.H., Lam C.W., Ohi T., Yazawa S., et al. Familial Parkinsonism with digenic parkin and PINK1 mutations. Mov Disord 23 (2008) 1461-1465
    • (2008) Mov Disord , vol.23 , pp. 1461-1465
    • Funayama, M.1    Li, Y.2    Tsoi, T.H.3    Lam, C.W.4    Ohi, T.5    Yazawa, S.6
  • 18
    • 33745280651 scopus 로고    scopus 로고
    • Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity
    • Hampe C., Ardila-Osorio H., Fournier M., Brice A., and Corti O. Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity. Hum Mol Genet 15 (2006) 2059-2075
    • (2006) Hum Mol Genet , vol.15 , pp. 2059-2075
    • Hampe, C.1    Ardila-Osorio, H.2    Fournier, M.3    Brice, A.4    Corti, O.5
  • 20
    • 33645213513 scopus 로고    scopus 로고
    • Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts
    • Schlitter A.M., Kurz M., Larsen J.P., Woitalla D., Muller T., Epplen J.T., et al. Parkin gene variations in late-onset Parkinson's disease: comparison between Norwegian and German cohorts. Acta Neurol Scand 113 (2006) 9-13
    • (2006) Acta Neurol Scand , vol.113 , pp. 9-13
    • Schlitter, A.M.1    Kurz, M.2    Larsen, J.P.3    Woitalla, D.4    Muller, T.5    Epplen, J.T.6
  • 21
    • 3342996696 scopus 로고    scopus 로고
    • Parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease
    • Poorkaj P., Nutt J.G., James D., Gancher S., Bird T.D., Steinbart E., et al. Parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease. Am J Med Genet A 129A (2004) 44-50
    • (2004) Am J Med Genet A , vol.129 A , pp. 44-50
    • Poorkaj, P.1    Nutt, J.G.2    James, D.3    Gancher, S.4    Bird, T.D.5    Steinbart, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.