메뉴 건너뛰기




Volumn 14, Issue 5, 2008, Pages 393-396

Analysis of the LRRK2 Gly2385Arg variant in primary dystonia and multiple system atrophy in Taiwan

Author keywords

Dystonia; Gly2385Arg; LRRK2; Multiple system atrophy; Parkinson's disease

Indexed keywords

ARGININE; ENZYME VARIANT; GLYCINE; LEUCINE RICH REPEAT KINASE 2;

EID: 46849086960     PISSN: 13538020     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2008.03.004     Document Type: Article
Times cited : (10)

References (24)
  • 1
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C., Jain S., Evans E.W., Gilks W.P., Simon J., van der Brug M., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004) 595-600
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3    Gilks, W.P.4    Simon, J.5    van der Brug, M.6
  • 2
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3    Lichtner, P.4    Farrer, M.5    Lincoln, S.6
  • 3
    • 33749011424 scopus 로고    scopus 로고
    • The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2
    • Bonifati V. The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2. Curr Neurol Neurosci Rep 6 (2006) 355-357
    • (2006) Curr Neurol Neurosci Rep , vol.6 , pp. 355-357
    • Bonifati, V.1
  • 4
    • 19944431081 scopus 로고    scopus 로고
    • A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
    • Di Fonzo A., Rohe C.F., Ferreira J., Chien H.F., Vacca L., Stocchi F., et al. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 365 (2005) 412-415
    • (2005) Lancet , vol.365 , pp. 412-415
    • Di Fonzo, A.1    Rohe, C.F.2    Ferreira, J.3    Chien, H.F.4    Vacca, L.5    Stocchi, F.6
  • 6
    • 19944432606 scopus 로고    scopus 로고
    • Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
    • Nichols W.C., Pankratz N., Hernandez D., Paisan-Ruiz C., Jain S., Halter C.A., et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365 (2005) 410-412
    • (2005) Lancet , vol.365 , pp. 410-412
    • Nichols, W.C.1    Pankratz, N.2    Hernandez, D.3    Paisan-Ruiz, C.4    Jain, S.5    Halter, C.A.6
  • 9
    • 34548770783 scopus 로고    scopus 로고
    • LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg) - linking familial and sporadic Parkinson's disease
    • [Epub ahead of print Apr 18].
    • Bonifati V. LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg) - linking familial and sporadic Parkinson's disease. Neurochem Res (2007) [Epub ahead of print Apr 18].
    • (2007) Neurochem Res
    • Bonifati, V.1
  • 10
    • 27744446035 scopus 로고    scopus 로고
    • The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
    • Lu C.S., Simons E.J., Wu-Chou Y.H., Di Fonzo A., Chang H.C., Chen R.S., et al. The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. Parkinsonism Relat Disord 11 (2005) 521-522
    • (2005) Parkinsonism Relat Disord , vol.11 , pp. 521-522
    • Lu, C.S.1    Simons, E.J.2    Wu-Chou, Y.H.3    Di Fonzo, A.4    Chang, H.C.5    Chen, R.S.6
  • 11
    • 20644455323 scopus 로고    scopus 로고
    • The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
    • Tan E.K., Shen H., Tan L.C., Farrer M., Yew K., Chua E., et al. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 384 (2005) 327-329
    • (2005) Neurosci Lett , vol.384 , pp. 327-329
    • Tan, E.K.1    Shen, H.2    Tan, L.C.3    Farrer, M.4    Yew, K.5    Chua, E.6
  • 12
    • 33746079596 scopus 로고    scopus 로고
    • A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan
    • Di Fonzo A., Wu-Chou Y.H., Lu C.S., van Doeselaar M., Simons E.J., Rohe C.F., et al. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 7 (2006) 133-138
    • (2006) Neurogenetics , vol.7 , pp. 133-138
    • Di Fonzo, A.1    Wu-Chou, Y.H.2    Lu, C.S.3    van Doeselaar, M.4    Simons, E.J.5    Rohe, C.F.6
  • 13
    • 33846358949 scopus 로고    scopus 로고
    • The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence
    • Tan E.K., Zhao Y., Skipper L., Tan M.G., Di Fonzo A., Sun L., et al. The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence. Hum Genet 120 (2007) 857-863
    • (2007) Hum Genet , vol.120 , pp. 857-863
    • Tan, E.K.1    Zhao, Y.2    Skipper, L.3    Tan, M.G.4    Di Fonzo, A.5    Sun, L.6
  • 15
    • 33846587090 scopus 로고    scopus 로고
    • A common genetic factor for Parkinson's disease in ethnic Chinese population in Taiwan
    • Fung H.C., Chen C.M., Hardy J., Singleton A.B., and Wu Y.R. A common genetic factor for Parkinson's disease in ethnic Chinese population in Taiwan. BMC Neurol 6 (2006) 47
    • (2006) BMC Neurol , vol.6 , pp. 47
    • Fung, H.C.1    Chen, C.M.2    Hardy, J.3    Singleton, A.B.4    Wu, Y.R.5
  • 16
    • 33847226901 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population
    • Funayama M., Li Y., Tomiyama H., Yoshino H., Imamichi Y., Yamamoto M., et al. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18 (2007) 273-275
    • (2007) Neuroreport , vol.18 , pp. 273-275
    • Funayama, M.1    Li, Y.2    Tomiyama, H.3    Yoshino, H.4    Imamichi, Y.5    Yamamoto, M.6
  • 18
    • 33644822969 scopus 로고    scopus 로고
    • Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease
    • Berg D., Schweitzer K., Leitner P., Zimprich A., Lichtner P., Belcredi P., et al. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain 128 (2005) 3000-3011
    • (2005) Brain , vol.128 , pp. 3000-3011
    • Berg, D.1    Schweitzer, K.2    Leitner, P.3    Zimprich, A.4    Lichtner, P.5    Belcredi, P.6
  • 19
    • 39149133528 scopus 로고    scopus 로고
    • Case control analysis of LRRK2 Gly2385Arg in Alzheimer's disease
    • [Epub ahead of print]
    • Tan E.K., Lee J., Chen C.P., Wong M.C., and Zhao Y. Case control analysis of LRRK2 Gly2385Arg in Alzheimer's disease. Neurobiol Aging (2007 Aug 24) [Epub ahead of print]
    • (2007) Neurobiol Aging
    • Tan, E.K.1    Lee, J.2    Chen, C.P.3    Wong, M.C.4    Zhao, Y.5
  • 20
    • 0035404388 scopus 로고    scopus 로고
    • A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study
    • Sharma N., Hewett J., Ozelius L.J., Ramesh V., McLean P.J., Breakefield X.O., et al. A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol 159 (2001) 339-344
    • (2001) Am J Pathol , vol.159 , pp. 339-344
    • Sharma, N.1    Hewett, J.2    Ozelius, L.J.3    Ramesh, V.4    McLean, P.J.5    Breakefield, X.O.6
  • 22
    • 0032975059 scopus 로고    scopus 로고
    • Decreased striatal monoaminergic terminals in multiple system atrophy detected with positron emission tomography
    • Gilman S., Koeppe R.A., Junck L., Little R., Kluin K.J., Heumann M., et al. Decreased striatal monoaminergic terminals in multiple system atrophy detected with positron emission tomography. Ann Neurol 45 (1999) 769-777
    • (1999) Ann Neurol , vol.45 , pp. 769-777
    • Gilman, S.1    Koeppe, R.A.2    Junck, L.3    Little, R.4    Kluin, K.J.5    Heumann, M.6
  • 23
    • 33746870719 scopus 로고    scopus 로고
    • Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease
    • Tan E.K., Skipper L., Chua E., Wong M.C., Pavanni R., Bonnard C., et al. Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease. Mov Disord 21 (2006) 997-1001
    • (2006) Mov Disord , vol.21 , pp. 997-1001
    • Tan, E.K.1    Skipper, L.2    Chua, E.3    Wong, M.C.4    Pavanni, R.5    Bonnard, C.6
  • 24
    • 34247276516 scopus 로고    scopus 로고
    • G2019S mutation in the LRRK2 gene is not associated with multiple system atrophy
    • Ozelius L.J., Foroud T., May S., Senthil G., Sandroni P., Low P.A., et al. G2019S mutation in the LRRK2 gene is not associated with multiple system atrophy. Mov Disord 22 (2007) 546-549
    • (2007) Mov Disord , vol.22 , pp. 546-549
    • Ozelius, L.J.1    Foroud, T.2    May, S.3    Senthil, G.4    Sandroni, P.5    Low, P.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.