Srour M, Hamdan FF, Gan-Or Z, Labuda D, Nassif C, Oskoui M, Gana-Weisz M, Orr-Urtreger A7, Rouleau GA and Michaud JL. A Homozygous Mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clinical Genetics. 2015. PubMed
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Genetic markers of Restless Legs Syndrome in Parkinson Disease
Gan-Or Z, Alcalay RN, Bar-Shira A, Leblond CS, Postuma RB, Ben-Shachar S, Waters C, Johnson A, Levy OA, Mirelman A, Gana-Weisz M, Dupre N, Montplaisir JY, Giladi N, Fahn S, Xiong L, Dion PA, Orr-Urtreger A and Rouleau GA. Genetic markers of Restless Legs Syndrome in Parkinson Disease. Parkinsonism and Related Disorders. 2015. PubMed
Differential effects of severe vs. mild GBA mutations on Parkinson disease
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
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