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CORTICOBASAL SYNDROME AND PRIMARY PROGRESSIVE APHASIA AS MANIFESTATIONS OF LRRK2 GENE MUTATIONS

CORTICOBASAL SYNDROME AND PRIMARY PROGRESSIVE APHASIA AS MANIFESTATIONS OF LRRK2 GENE MUTATIONS,10.1212/01.wnl.0000320511.30222.dd,Neurology,O. A. Ros

CORTICOBASAL SYNDROME AND PRIMARY PROGRESSIVE APHASIA AS MANIFESTATIONS OF LRRK2 GENE MUTATIONS   (Citations: 1)
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O. A. Ross, M. Toft, K. Haugarvoll, A. Chen-Plotkin, W. Yuan, C. Anderson, E. M. Wood, H. I. Hurtig, C. Clark, B. L. Miller, V. M.-Y. Lee, J. Q. Trojanowskihttp://academic.research.microsoft.com/io.ashx?type=5&id=37724445&selfId1=0&selfId2=0&maxNumber=12&query=
Journal: Neurology , vol. 71, no. 4, pp. 303-304, 2008
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    • ...Herein we discuss the implications of recent genetic discoveries for genotype-phenotype correlations in LRRK2-associated disease.LRRK2-Associated PDThe most prevalent mutation in LRRK2 (p.G2019S) accounts for 1–2% of sporadic PD and about 5% of familial PD in populations of European descent. Figures rise to 10–40% among North-African Arabs and Ashkenazi Jews, whereas Lrrk2 p.G2019S is almost absent in Asian populations. Over forty LRRK2 variants have been identified in PD patients, but only six of them (p.R1441C, p.R1441G, p.R1441H, p.Y1699C, p.G2019S, and p.I2020T) have been established as definitely pathogenic [...

    Christian Wideret al. Leucine-Rich Repeat Kinase 2 Gene-Associated Disease: Redefining Genot...

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