메뉴 건너뛰기




Volumn 20, Issue 2, 2013, Pages 217-219

Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China

Author keywords

Essential tremor; Glucocerebrosidase; L444P; Multiple system atrophy

Indexed keywords

GENOMIC DNA; GLUCOSYLCERAMIDASE;

EID: 84872332641     PISSN: 09675868     EISSN: 15322653     Source Type: Journal    
DOI: 10.1016/j.jocn.2012.01.055     Document Type: Article
Times cited : (23)

References (12)
  • 1
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • E. Sidransky, M.A. Nalls, and J.O. Aasly Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease N Eng J Med 361 2009 1651 1661
    • (2009) N Eng J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 2
    • 66249129677 scopus 로고    scopus 로고
    • Association of glucocerebrosidase mutations with dementia with lewy bodies
    • L.N. Clark, L.A. Kartsaklis, and R. Wolf Gilbert Association of glucocerebrosidase mutations with dementia with lewy bodies Arch Neurol 66 2009 578 583
    • (2009) Arch Neurol , vol.66 , pp. 578-583
    • Clark, L.N.1    Kartsaklis, L.A.2    Wolf Gilbert, R.3
  • 3
    • 0028298499 scopus 로고
    • The relationship of essential tremor to other movement disorders: Report on 678 patients. Essential tremor study group
    • W.C. Koller, K. Busenbark, and K. Miner The relationship of essential tremor to other movement disorders: report on 678 patients. Essential tremor study group Ann Neurol 35 1994 717 723
    • (1994) Ann Neurol , vol.35 , pp. 717-723
    • Koller, W.C.1    Busenbark, K.2    Miner, K.3
  • 4
    • 36749008470 scopus 로고    scopus 로고
    • Neuropathological changes in essential tremor: 33 cases compared with 21 controls
    • E.D. Louis, P.L. Faust, and J.P. Vonsattel Neuropathological changes in essential tremor: 33 cases compared with 21 controls Brain 130 2007 3297 3307
    • (2007) Brain , vol.130 , pp. 3297-3307
    • Louis, E.D.1    Faust, P.L.2    Vonsattel, J.P.3
  • 5
    • 52449086856 scopus 로고    scopus 로고
    • Second consensus statement on the diagnosis of multiple system atrophy
    • S. Gilman, G.K. Wenning, and P.A. Low Second consensus statement on the diagnosis of multiple system atrophy Neurology 71 2008 670 676
    • (2008) Neurology , vol.71 , pp. 670-676
    • Gilman, S.1    Wenning, G.K.2    Low, P.A.3
  • 6
    • 16344362746 scopus 로고    scopus 로고
    • The role of alpha-synuclein in the pathogenesis of multiple system atrophy
    • G.K. Wenning, and K.A. Jellinger The role of alpha-synuclein in the pathogenesis of multiple system atrophy Acta Neuropathol 109 2005 129 140
    • (2005) Acta Neuropathol , vol.109 , pp. 129-140
    • Wenning, G.K.1    Jellinger, K.A.2
  • 7
    • 34047193434 scopus 로고    scopus 로고
    • Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles
    • F.Y. Choy, W. Zhang, and H.P. Shi Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles Blood Cells Mol Dis 38 2007 287 293
    • (2007) Blood Cells Mol Dis , vol.38 , pp. 287-293
    • Choy, F.Y.1    Zhang, W.2    Shi, H.P.3
  • 8
    • 77953485608 scopus 로고    scopus 로고
    • Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population
    • Q.Y. Sun, J.F. Guo, and L. Wang Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population Mov Disord 25 2010 1005 1011
    • (2010) Mov Disord , vol.25 , pp. 1005-1011
    • Sun, Q.Y.1    Guo, J.F.2    Wang, L.3
  • 9
    • 0031740582 scopus 로고    scopus 로고
    • Consensus statement of the movement disorder society on tremor. Ad Hoc Scientific Committee
    • G. Deuschl, P. Bain, and M. Brin Consensus statement of the movement disorder society on tremor. Ad Hoc Scientific Committee Mov Disord 13 1998 2 23
    • (1998) Mov Disord , vol.13 , pp. 2-23
    • Deuschl, G.1    Bain, P.2    Brin, M.3
  • 10
    • 0032975059 scopus 로고    scopus 로고
    • Decreased striatal monoaminergic terminals in multiple system atrophy detected with positron emission tomography
    • S. Gilman, R.A. Koeppe, and L. Junck 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
  • 12
    • 75749098070 scopus 로고    scopus 로고
    • Mutations in the Parkinson's disease genes, leucine rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA), are not associated with essential tremor
    • L.N. Clark, S. Kisselev, and N. Park Mutations in the Parkinson's disease genes, leucine rich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA), are not associated with essential tremor Parkinsonism Relat Disord 16 2010 132 135
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 132-135
    • Clark, L.N.1    Kisselev, S.2    Park, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.