Gan-Or Z, Amshalom I, Kilarski L.L, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman, Giladi N, and Orr-Urtreger A. Differential effects of severe vs. mild GBA mutations on Parkinson disease. Neurology. 2015. PubMed
Author: Fx Degroot
CHRNB3 c.-57A>G functional promoter change affects Parkinson’s disease and smoking
(*equal contribution) Bar-Shira A*, Gana-Weisz M*, Gan-Or Z*, Giladi E, Giladi N and Orr-Urtreger A. CHRNB3 c.-57A>G functional promoter change affects Parkinson’s disease and smoking. Neurobiology of Aging. 2014. PubMed
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, Gana-Weisz M, Raymond D, Rozenkrantz L, Deik A, Gurevich T, Gross SJ, Schreiber-Agus N, Giladi N, Bressman SB, and Orr-Urtreger A. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology. 2013. PubMed
The age at motor symptoms onset in LRRK2-associated Parkinson’s disease is affected by a variation in the MAPT locus; a possible interaction
Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Giladi N, Orr-Urtreger A. The age at motor symptoms onset in LRRK2-associated Parkinson’s disease is affected by a variation in the MAPT locus; a possible interaction. Journal of Molecular Neuroscience. 2012. PubMed
Sequence alterations in the putative promoter of RAB7L1 are associated with a reduced Parkinson disease risk
Gan-Or Z, Bar-Shira A, Dahary D, Mirelman A, Kedmi M, Gurevich T, Giladi N, Orr-Urtreger A. Sequence alterations in the putative promoter of RAB7L1 are associated with a reduced Parkinson disease risk. JAMA Neurology. 2012. PubMed
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age at onset in GBA-associated Parkinson’s Disease
Gan-Or Z, Bar-Shira A, Gurevich T, Giladi N, Orr-Urtreger A. Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age at onset in GBA-associated Parkinson’s Disease. Neurogenetics, 2011. PubMed
False-positive results using a Gaucher diagnostic kit–RecTL and N370S
Choi JH, Velayati A, Stubblefield BK, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. False-positive results using a Gaucher diagnostic kit–RecTL and N370S. Molecular Genetics and Metabolism, 2010. PubMed
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease
Gan-Or Z, Bar-Shira A, Mirelman A, Gurevich T, Kedmi M, Giladi N, Orr-Urtreger A. LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Neurogenetics, 2010. PubMed
The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews
Thaler A, Ash E, Gan-Or Z, Orr-Urtreger A, Giladi N, The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews. Journal of Neuronal Transmission, 2009. (review). PubMed
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson Disease
Sidransky E, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark LN, Condroyer C, De Marco VE, Dürr A, Eblan MJ, Fahn S, Farrer M, Fung H-C, Gan-Or Z, Gasser T, Gershoni R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen G-J, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nalls MA, Nicoletti G, Oliveira C, Orr-Urtreger A, Pereira L de Veiga, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Sammadar T, Schulte C, Manu Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano A, Tsuji S, Wolfsburg T, Wu Y-R, Zabetian CP, Ziegler SG. Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson Disease. New England Journal of Medicine. 2009. PubMed