Publications

  • Gan-Or Z, Giladi N, Rozovski U, Shifrin C, Rosner S, Gurevich T, Bar-Shira A, Orr-Urtreger A. Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset. Neurology, 2008. PubMed
     

  • Gan-Or Z. Giladi N, Orr-Urtreger A. Differential phenotype in Parkinson’s disease patients with severe versus mild GBA mutations. Brain, 2009. (letter). PubMed
     

  • 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
     

  • 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
     

  • 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
     

  • 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
     

  • 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
     

  • 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. Archives of Neurology (currently named JAMA Neurology). 2012. PubMed
     

  • 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
     

  • 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
     

  • Mirelman A, Heman T, Yasinovsky K, Thaler A, Gurevich T, Marder K, Bressman S, Bar-Shira A, Orr-Urtreger A, Giladi N and Hausdorff JM; LRRK2 Ashkenazi Jewish Consortium. Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation. Movement Disorders. 2013. PubMed
     

  • Thaler A, Mirelman A, Helmich RC, van Nuenen BF, Rosenberg-Katz K, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Giladi N and Hendler T; LRRK2 Ashkenazi Jewish consortium. Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers. Cortex. 2013. PubMed
     

  • Thaler A, Artzi M, Mirelman A, Jacob Y, Helmich RC, van Nuenen BF, Gurevich T, Orr-Urtreger A, Marder K, Bressman S, Bloem BR, Hendler T, Giladi N, and Ben Bashat D; LRRK2 Ashkenazi Jewish Consortium. A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers. Movement Disorders. 2014. PubMed
     

  • (*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
     

  • Alcalay RN, Mejia-Santana H, Mirelman A, Saunders-Pullman R, Raymond D, Palmese C, Caccappolo E, Ozelius L, Orr-Urtreger A, Clark L, Giladi N, Bressman S, and Marder K; LRRK2 Ashkenazi Jewish Consortium. Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease. Parkinsonism and Related Disorders. 2015. PubMed
     

  • 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
     

  • 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
     

  • 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
     

  • Gan-Or Z, Girard SL, Noreau A, Leblond CS, Gagnon JF, Arnulf I, Mirarchi C, Dauvilliers Y, Desautels A, Mitterling T, Cochen De Cock V, Frauscher B, Monaca C, Hogl B, Dion PA, Postuma RB, Montplaisir JY and Rouleau GA. Parkinson’s disease genetic loci in Rapid Eye Movement Sleep Behavior Disorder. Journal of Molecular Neuroscience. 2015. PubMed
     

  • Gan-Or Z, Leblond CS, Mallett V, Orr-Urtreger A, Dion PA and Rouleau GA. LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis. Parkinsonism and Related Disorders. 2015. PubMed
     

  • Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L and Rouleau GA. Analysis of functional GLO1 variants in the BTBD9 locus and Restless Legs Syndrome. Sleep Medicine. 2015. PubMed
     

  • Gan-Or Z. PARK16 haplotypes and the importance of protective genetic factors in Parkinson’s disease. Journal of Human Genetics. 2015. (letter). PubMed
     

  • Alcalay RN, Levy OA, Waters C, Fahn S, Ford B, Kuo SH, Mazzoni P, Marder K, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P and Zhang XK. Glucocerebrosidase activity in Parkinson disease with and without GBA mutations. Brain. 2015. PubMed
     

  • Gan-Or Z, Dion PA and Rouleau GA. Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease. Autophagy. 2015. (review). PubMed
     

  • Gan-Or Z, Mirelman A, Postuma RB, Arnulf I, Bar-Shira A, Dauvilliers Y, Desautels A, Gagnon JF, Leblond CS, Frauscher B, Alcalay RN, Saunders-Pullman R, Bressman SB, Marder K, Monaca C, Hogl B, Orr-Urtreger A, Dion PA, Montplaisir JY, Giladi N and Rouleau GA. GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder. Annals of clinical and translational neurology. 2015. PubMed
     

  • Gan-Or Z, Amshalom I, Bar-Shira A, Gana-Weisz M, Mirelman A, Marder K, Bressman S, Giladi N, and Orr-Urtreger A. The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease. Journal of Neurology. 2015. PubMed
     

  • Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D; Bouchard JP, Awadalla P, Dupré N, Dion PA and Rouleau GA. Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis. Neurobiology of aging. 2016. PubMed
     

  • Gan-Or Z, Orr-Urtreger A, Alcalay RN, Bressman S,Giladi N and Rouleau GA. The emerging role of SMPD1 mutations in Parkinson’s disease; implications for future studies. Parkinsonism and Related Disorders. 2015. (letter). PubMed
     

  • Kobo H, Bar-Shira A, Dahary D, Gan-Or Z, Goldstein O, Giladi N and Orr-Urtreger A. Down-regulation of B cell related genes in peripheral blood leukocytes of GBA-associated Parkinson's disease. Molecular Genetics and Metabolism. 2016. PubMed
     

  • Gan-Or Z, Zhou S, Johnson A, Montplaisir JY, Allen RP, Earley CJ, Desautels A, Dion PA, Xiong L and Rouleau GA. Case-control and family based association study of PTPRD in Restless Legs Syndrome. Movement Disorders Clinical Practice. 2016. PubMed
     

  • Pal GD, Hall D, Ouyang B, Phelps J, Alcalay RN, Nichols W, Clark L, Mejia-Santana H, Blasucci1 L, Goetz CG, Comella C, Colcher A, Gan-Or Z, Rouleau GA and Marder K for the CORE-PD Investigators. Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson's Disease. Movement Disorders Clinical Practice. 2016. PubMed
     

  • Alcalay RN, Levy OA, Wolf P, Oliva P, Zhang XK, Waters CH, Fahn S, Kang U, Liong C, Ford B, Mazzoni P, Kuo S, Johnson A, Xiong L, Rouleau GA, Chung W, Marder KS, and Gan-Or Z. SCARB2 variants and glucocerebrosidase activity in Parkinson disease. NPJ Parkinson’s Disease. 2016. PubMed
     

  • Leblond CS, Webber A, Gan-Or Z, Laurent SB, Hince P, Catoire H, Moore F, Dagher A, Dion PA and Rouleau GA. De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia. Neurology Genetics. 2016. PubMed
     

  • Rozenkrantz L, Gan-Or Z, Gana-Weisz M, Mirelman A, Giladi N, Bar-Shira A and Orr-Urtreger A. SEPT14 is associated with a reduced risk for Parkinson's disease and expressed in human brain. Journal of Molecular Neuroscience. 2016. PubMed
     

  • Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa C, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN and Rouleau GA. The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder. Neurobiology of Aging. 2016. PubMed
     

  • Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuck A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc F, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B. Mutations in CAPN1 Cause Autosomal Recessive Hereditary Spastic Paraplegia. American Journal of Human Genetics. 2016. PubMed
     

  • Ross J, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA and Gan-Or Z. Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease. Neurobiology of Aging. 2016. PubMed
     

  • Mallett V, Ross J, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA and Gan-Or Z. The GBA p.T369M substitution in Parkinson disease, polymorphism or association? A meta-analysis. Neurology Genetics. 2016. PubMed
     

  • Gan-Or Z and Rouleau GA. Calpain 1 in neurodegeneration; a therapeutic target? Lancet Neurology. 2016. (letter). PubMed
     

  • (*equal contribution) Diomedi M*, Gan-Or Z*, Placidi F, Dion PA, Szuto A, Bengala M, Rouleau GA and Gigli GL. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated Hereditary Spastic Paraplegia. European Journal of Medical Genetics. 2016. PubMed
     

  • Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA and Rouleau GA. RNF213 is associated with Intracranial Aneurysms in the French-Canadian population. American Journal of Human Genetics. 2016. PubMed
     

  • Gan-Or Z and Guy A Rouleau. Dynamics of microtubules and their associated proteins: Recent insights and clinical implications. Neurology. 2016. (letter). PubMed
     

  • Gan-Or Z, Montplaisir JY, Ross JP, Poirier J, Warby SC, Arnulf I, Strong S, Dauvilliers Y, Leblond CS, Hu MT, Högl B, Stefani A, Monaca CC, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Barber TR, Evetts SG, Rolinski M, Dion PA, Desautels A, Gagnon JF, Dupré N, Postuma RB and Rouleau GA. The dementia-associated APOE e4 allele is not associated with REM sleep behavior disorder. Neurobiology of Aging. 2017. PubMed
     

  • Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Provencher P, Boycott K, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA and Yoon G. Clinical and Genetic Study of Hereditary Spastic Paraplegia in Canada. Neurology Genetics. 2017. PubMed
     

  • Gan-Or Z, Yoon G, Suchowersky O, Dupré N and Rouleau GA. KCNA2 mutations are rare in hereditary spastic paraplegia. Annals of Neurology. 2017. PubMed
     

  • Gan-Or Z, Ruskey JA, Spiegelman D, Arnulf I, Dauvilliers Y, Högl B, Monaca CC, Postuma RB, Montplaisir JY and Rouleau GA. Heterozygous PINK1 p.G411S in rapid eye movement sleep behavior disorder. Brain. 2017. (letter). PubMed
     

  • Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA and Gan-Or Z. RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French. Neurobiology of Aging. 2017. PubMed
     

  • Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Pütz B, Dauvilliers Y, Stefani A, Högl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Ziv Gan-Or, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AF, Shah SH, Gieger C, Peters A, Roulev]au GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Müller-Myhsok B and Winkelmann J. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurology 2017. PubMed
     

  • Wolf P, Alcalay RN, Liong C, Cullen E, Paciulo MW, Nichols WC, Ziv Gan-Or, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Zhang XK, Keutzer JM and Oliva P. Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay. Molecular Genetics and Metabolism. 2017. PubMed
     

  • Gauquelin L, Tetreault M, Thiffault I, Saunders C, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z and Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2017. PubMed
     

  • Blauwendraat C, Kia DA, Pihlstrom L, Gan-Or Z, Lesage S, Gibbs JR, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Hernandez D, Singleton AB, Nalls MA, Brice A, Scholz SW and Wood NW. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease. Neurobiology of Aging. 2017. PubMed
     

  • Ross JP, Mohtashami S, Leveille E, Johnson AM, Xiong L, Dion PA, Fon EA, Dauvilliers Y, Dupre N, Rouleau GA and Gan-Or Z. Association study of Essential Tremor genetic loci in Parkinson’s disease. Neurobiology of Aging. 2018. PubMed
     

  • Mohtashami S, He Q, Ruskey JA, Zhou S, Dion PA, Allen RP, Earley CJ, Fon EA, Xiong L, Dupre N, Dauvilliers Y, Rouleau GA and Gan-Or Z. TOX3 variants are involved in restless legs syndrome and Parkinson disease with opposite effects. Journal of Molecular Neuroscience. 2018; PubMed
     

  • Alcalay RN, Wolf P, Levy O, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah I, Liong C, Narayan S, Pauciulo M, Nichols W, , Rouleau G, Chung W, Oliva P, Keutzer J, Marder K and Zhang X. Alpha galactosidase A activity in Parkinson's disease. Neurobiology of Disease. 2018; PubMed
     

  • Gan-Or Z, Alcalay RN, Rouleau GA and Postuma RB. Sleep disorders and Parkinson disease; lessons from genetics. Sleep Medicine Reviews. 2018. PubMed
     

  • Zhou S, Gan-Or Z, Ambalavanan A, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Xiong L, Dion PA and Rouleau GA. Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysms in the French-Canadian population. Scientific Reports. 2018. PubMed
     

  • Ouled Amar Bencheikh B, Ruskey JA, Arnulf I, Dauvilliers Y, Charley Monaca C, Cochen De Cock V, Gagnon JF, Spiegelman D, Hu MTM, Högl B, Stefani A, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Oertel W, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or Z. LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder. Parkinsonism and Related Disorders. 2018 PubMed
     

  • Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, AmbalavananA, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA and Gan-Or Z. Full sequencing and haplotype analysis of MAPT in Parkinson disease and REM sleep behavior disorder. Movement Disorders. 2018; PubMed
     

  • Yao C, Fereshtehnejad SM, Dawson BK, Pelletier A, , Gagnon JF, Montplaisir JY, and Postuma RB. Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable? Parkinsonism and Related Disorders. 2018. PubMed
     

  • Thaler A, Bregman N, Gurevich T, Shiner T, Dror Y, Zmira O, Gan-Or Z, Orr-Urtreger A, Giladi N and Mirelman A. Parkinson's disease phenotype is influenced by the mutation in the GBA gene. Parkinsonism and Related Disorders. 2018. PubMed
     

  • Ruskey JA, Greenbaum L, Roncière L, Alam A, Spiegelman D, Liong C, Levy OA, Waters C, Fahn S, Marder KS, Chung W, Yahalom G, Israeli-Korn S, Livneh V, Fay-Karmon T, Alcalay RN, Hassin-Baer S and Ziv Gan-Or. Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease. European Journal of Medical Genetics. 2018. PubMed
     

  • Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrom L, Gibbs RJ, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez D, Chung SJ, Goldwurm S, Toft M, Schulte C, International Parkinson’s Disease Genomics Consortium (IPDGC), COURAGE-PD Consortium, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB and Cookson MR. Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease. JAMA Neurology. 2018. PubMed
     

  • Gan-Or Z, Liong C and Alcalay RN. GBA-associated Parkinson's disease and other synucleinopathies.  Current Neurology and Neuroscience Reports. 2018. PubMed
     

  • Ruskey JA, Zhou S, Santiago R, Franche LA, Alam A, Foncière L, Spiegelman D, Fon EA, Trempe JF, Kalia LV, Postuma RB, Dupre N, Rivard GE, Assouline S, Amato D and Gan-Or Z. The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies. Clinical genetics. 2018. PubMed
     

  • Ouled Amar Bencheikh B, Leveille E, Ruskey JA, Spiegelman D, Liong C, Fon EA, Rouleau GA, Dauvilliers Y, Dupre N, Alcalay RN and Gan-Or Z. Sequencing of the GBA co-activator, Saposin C, in Parkinson disease. Neurobiology of Aging. 2018. PubMed
     

  • Rudakou U, Ouled Amar Bencheikh B, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Liong C, Fahn S, Waters C, Monchi O, Fon EA, Dauvilliers Y, Alcalay RN, Dupré N and Gan-Or Z. Common and rare GCH1 variants are associated with Parkinson disease. Neurobiology of Aging. 2018. PubMed
     

  • Yahalom G, Greenbaum L, Israeli-Korn S, Fay-Karmon T, Livneh V, Ruskey JA, Roncière L, Alam A, Gan-Or Z and Hassin-Baer S. Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations. Parkinsonism and Related Disorders. 2018. PubMed
     

  • Shetty A, Gan-Or Z, Ashtiania S, Ruskey JA, van de Warrenburge B, Wassenberge T, Kamsteegf EJ, Rouleau GA and Suchowersky O. CAPN1 mutations: Expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia. European Journal of Medical Genetics. 2018. PubMed
     

  • Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA and Rouleau GA. Screening of novel Restless Legs Syndrome genes in French-Canadian families. Neurology Genetics. 2018. PubMed
     

  • Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G and Gan-Or Z. Triple A syndrome presenting as complicated hereditary spastic paraplegia. Molecular Genetics and Genomics in Medicine. 2018. PubMed
     

  • Gan-Or Z, Mencacci NE and Nalls MA. Dystonia; a roadmap is needed for future genetic studies. Parkinsonism and Related Disorders. 2018. PubMed
     

  • Blauwendraat C, Heilbron K, Vallerga CL, Bandres-Ciga S, von Coelln R, Pihlstrom L, Simon-Sanchez J, Schulte C, Sharma M, Krohn L, Siitonen A, Iwaki H, Leonard H, Noyce AJ, Tan M, Gibbs JR, Hernandez DG, Scholz SW, Jankovic J, Shulman LM, Lesage S, Corvol JC, Brice A, van Hilten JJ, Marinus J, The 23andMe Research Team, Tienari P, Majamaa K, Toft M, Grosset DG, Gasser T, Heutink P, Shulman JM, Wood N, Hardy J, Morris HR, Hinds DA, Gratten J, Visscher PM, Gan-Or Z, Nalls MA, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms. Movement Disorders. 2019. PubMed
     

  • Yi W, MacDougall EJ, Tang MY, Krahn AI, Gan-Or Z, Trempe JF and Fon EA. The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s disease. Human Molecular Genetics. 2019. PubMed
     

  • Bandres-Ciga S, Saez-Atienzar S, Bonet-Ponce L, Billingsley K, Vitale D, Blauwendraat C, Gibbs JR, Pihlstrom L, Gan-Or Z, The International Parkinson’s Disease Genomics Consortium (IPDGC), Cookson MR, Nalls MA and Singleton AB. The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson disease. Movement Disorders. 2019. PubMed
     

  • Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, International Parkinson’s Disease Genomics Consortium (IPDGC), Ryten M and Sulev Koks. Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset. NPJ Parkinson's Disease. 2019PubMed
     

  • Honeycutt L, Montplaisir JY, Gagnon JF, Ruskey JA, Pelletier, Gan-Or Z* and Postuma RB*. (*co-corresponding authors). Glucocerbrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia. Parkinsonism and Related Disorders. 2019. PubMed
     

  • Farazi Fard MA, Rebelo AP, Buglo B, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi M, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S and Faghihi MA. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 2019. PubMed
     

  • Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu YJR, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA and Gan-Or Z. SMPD1 mutations, activity and a-synuclein accumulation in Parkinson’s disease. Movement Disorders. 2019. PubMed
     

  • Postuma RB, Iranzo A, Hu M, Högl B, Boeve B, Manni R, Oertel W, Arnulf I, Ferini-Strambi L, Puligheddu M, Antelmi E, De Cock VC, Arnaldi D, Mollenhauer B, Videnovic A, Sonka K, Jung KY, Kunz D, Dauvilliers Y, Provini F, Lewis SJ, Buskova J, Pavlova M, Heidbreder A, Montplaisir JY,Santamaria J, Barber TR, Stefani A, St-Louis E, Terzaghi M, Janzen A, Leu-Semenescu S, Plazzi G, Nobili F, Sixel-Doering F, Dusek P, Bes E, Cortelli P, Martens KE, Gagnon JF, Gaig C, Zucconi M, Trenkwalder C, Gan-Or Z, Lo C, Rolinski M, Mahlknecht P, Holzknecht E, Toscano G, Mayer G, Morbelli S, Dawson B, Pelletier A and the International REM sleep Behavior Disorder Study Group. Neurodegenerative Risk and Predictors of Outcome in Idiopathic REM sleep Behavior Disorder: A Prospective Multicenter study. Brain. 2019. PubMed
     

  • Espay AJ, Vizcarra JA, Marsili L, Lang AE, Simon DK, Merola A, Josephs KA, Fasano A, Morgante F, Savica R, Greenamyre T, Cambi F, Yamasaki TR, Tanner CM, Gan-Or Z, Litvan I, Mata IF, Zabetian CP, Brundin P, Fernandez HH, Standaert DG, Kauffman MA, Sherer T, Perry G and Leverenz JB. Revisiting Protein Aggregation as Pathogenic in Sporadic Parkinson’s and Alzheimer’s Diseases. Neurology. 2019. PubMed
     

  • Noyce A, Bandres Ciga S, Kim J, Heilbron K, kia D, Hemani G, Xue A, Lawlor DA, Smith GD, Duran R, Gan-Or Z, Blauwendraat C, Gibbs R, 23andMe, International Parkinson's Disease Genomics Consortium, Hinds D, Yang P, Visscher PM, Cuzick J, Morris H, Hardy J, Wood N, Nalls MA and Singleton AB. The Parkinson’s Disease Mendelian Randomization Research Portal. Movement Disorders, in press. Pre-print available on bioRxiv: doi: https://doi.org/10.1101/604033.
     

  • Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrom L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, The 23andMe Research Team, System Genomics of Parkinson's Disease (SGPD) Consortium, Sutherland M, Tienari P, Majamaa K, Toft M, Brice A, Yang J, , Gasser T, Heutink P, Shulman JM, Wood N, Hinds DA, Hardy J, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB, for the International Parkinson’s Disease Genomics Consortium. Parkinson’s disease genetics: identifying novel risk loci, providing causal insights and improving estimates of heritable risk. Lancet Neurology, in press.  https://www.biorxiv.org/content/early/2018/08/09/388165
     

  • Gan-Or Z, Alcalay RN, Makarious MB, Scholz SW, Blauwendraat C and the International Parkinson’s Disease Genomics Consortium (IPDGC). Classification of GBA variants and their effects in synucleinopathies. Movement Disorders, in press.
     

  • Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Furgeson G, Day-Williams AG, Stone DJ, International Parkinson’s Disease Genomics Consortium (IPDGC), Singleton AB, Nalls MA and Gan-Or Z. Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s. Journal of Medical Genetics, in press.
     

  • Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupré N, Trempe JF, Rouleau GA and Gan-Or Z. SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia. Journal of Human Genetics. 2019. PubMed
     

  • Gamache PL, Gan-Or Z, Lebouthiller J, Roux-Dubois N, Provencher P and Dupré N. Exposure to pesticides and welding hastens the age-at-onset of Parkinson disease. Canadian Journal of Neurological Sciences. 2019. PubMed
     

  • Blauwendraat C, Reed X, Krohn L, Heilborn K, Bandres-Ciga S, Tan M, Gibbs R, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard H, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Pantelyat A, Hillis-Trupe AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson M, Nalls MA, Gan-Or Z* and Singleton A* (*equal contribution). Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia. Brain, in press.
     

  • Makarious MB, Diez-Fairen M, Krohn L, Kia D, Blauwendraat C, Bandres-Ciga S, Ding J, Pihlstrom L, Houlden H, Scholz SW and Gan-Or Z. ARSA variants in a-synucleinopathies. Brain, in press.
     

  • Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A,  Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, Dupré N, Hassin-Baer S, Alcalay RN, Rouleau GA, Fon EA and Gan-Or Z. Analysis of common and rare VPS13C variants in late onset Parkinson disease. Neurology Genetics, in press.
     

  • Akçimen F, Ross JP, Sarayloo F, Liao C, Oliveira RDB, Ruskey JA, Bourassa CV, Xiong L, Dion PA, and Rouleau GA. Genetic and epidemiological characterization of restless legs syndrome in Québec. Sleep, in press.
     

  • Krohn L, Öztürk TN, Vanderperre B, Ouled Amar Bencheikh B, Ruskey JA, Laurent SB, Spiegelman D, Postuma RB, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Rudakou U, Cochen De Cock V, Young P, Wolf P, Oliva P, Zhang XK, Greenbaum L, Liong C, Gagnon JF, Desautels A, Hassin-Baer S, Montplaisir JY, Dupré N, Rouleau GA, Fon EA, Trempe JF, Lamoureux G, Alcalay RN and Gan-Or Z. Genetic, structural and functional evidence link TMEM175 to synucleinopathies. Annals of Neurology, in press.
     

  • Gan-Or Z, Rao T, Leveille E, Degroot C, Chouinard S, Cicchetti F, Dagher A, Das S, Desautels A, Drouin-Ouellet J, Durcan T, Gagnon JF, Genge A, Karamchandani J, Lafontaine AL, Lai Wing Sun S, Langlois M, Levesque M, Melmed C, Panisset M, Parent M, Poline JB, Postuma RB, Pourcher E, Rouleau GA, Sharp M, Monchi O, Dupré N and Fon EA. The Quebec Parkinson Network: A researcher-patient matching platform and multimodal biorepository. Journal of Parkinson’s Disease, in press.

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