2024

• Chew EG, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LC, Chng WL, Tan TJ, Peh EK, Ho YS, Chen XY, Lim EY, Chang CH, Leong JJ, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AY, Lin JJ, Jeon BS, Song K, Tham CC, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Ahmad Annuar A, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z, Foo JN. Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson's disease risk. Nat Aging. Preprint, PubMed

• Somerville EN, Gan-Or Z. Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes. Expert Rev Mol Diagn. Preprint, PubMed
  

• Brolin KA, Bäckström D, Wallenius J, Gan-Or Z, Puschmann A, Hansson O, Swanberg M. GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population. Parkinsonism Relat Disord. 2024. PubMed

• Senkevich K, Parlar SC, Chantereault C, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Gan-Or Z. Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?  NPJ Parkinsons Dis. Preprint, PubMed

• Somerville EN, James A, Beetz C, Schwieger R, Barrel G, Kandaswamy KK, Iurascu MI, Bauer P, Ta M, Iwaki H, Senkevich K, Yu E, Alcalay RN and Gan-Or Z. Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson’s disease pathogenesis. Under review. Preprint, Pubmed

• Hengel H, Hannan SB, Reich S, Beijer D, Roller J, Gilsbach BK, Gloeckner CJ, Greene D, Timmann D, Depienne C, Mumford A, O’Driscoll M, Nemeth AH, Lundberg J, Rodan LH, Bruel AL, Delanne J, Baets J, Gan-Or Z, Rouleau G, Suchowersky O, Estiar MA, Reich S, Toro C, Züchner S, Hazan J, Pétursson H, Harmuth F, Bauer C, Bauer P, Turro E, Lambright D, Schöls L and Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Under review. Preprint, PubMed

• Estiar MA, Yu E, Varghaei P, Ross JP, Ashtiani S, Bayne AN, Coarelli G, Timmann D, lockgether T, Beijer D, Mengel D, Coutelier M, Project MinE ALS Sequencing Consortium, Dion PA, Suchowersky O, Ewenczyk C, Goizet C, Van Damme P, Al-Chalabi A, Zuchner S, Synofzik M, Veldink JH, Trempe JF, Durr A, Rouleau GA and Gan-Or Z. Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders. Under review. Preprint, PubMed

• Delva A, Pelletier A, Somerville E, Montplaisir J, Gagnon JF, Kollmorgen G, Kam-Thong T, Kustermann T, Machado V, Gan-Or Z and Postuma RB. Plasma biomarkers of Alzheimer’s pathology identify prodromal dementia with Lewy bodies. Under review. Preprint, PubMed

• Saini P, Yu E, Estiar MA, Krohn L, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Kaivola K, International LBD Genomics Consortium, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Doring F, Cochen De Cock V, Monaca CC, Grosset D, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Anselmi V, Ibrahim A, Stefani A, Hogl B, Hu MTM, Scholz SW and Gan-Or Z. Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies. Under review. Preprint, PubMed

• Senkevich K, Parlar SC, Chantereault C, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupre N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer L, Alcalay RN and Gan-Or Z. Are rare heterozygous SYNJ1 variants associated with Parkinson's disease? npj Parkinson's Disease, in press. Preprint, PubMed

• Laugwitz L, Buchert R, Olguín P, Estiar MA, Marques Júnior W, Enssle J, Candia N, Fabiano M, Morlot S, Peralta S, Groh A, Schillinger C, Kuehn C, Sofan L, Sturm M, Bender B, Tomaselli PJ, Diebold U, Mueller AJ, Spranger S, Fuchs M, Freua F, Melo US, Mattas L, Ashtinai S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z and Haack TB. EEFSEC Deficiency - A Novel Selenopathy with Early Onset Neurodegeneration. Under review. Preprint, PubMed

• Cressatti M, Pinilla-Monsalve GD, Blais M, Normandeau CP, Degroot C, Kathol I, Borard S, Bendas A, Camicioli R, Dupré N, Gan-Or Z, Grimes DA, Kalia LV, MacDonald PA, McKeown MJ, Martino D, Miyasaki JM, Schlossmacher MG, Stoessl AJ, Strafella AP, Fon EA and Monchi O. Advancing Parkinson’s Disease Research in Canada: The Canadian Open Parkinson Network (C-OPN). Under review. Preprint, PubMed

• Postuma RB, Vorasoot N, St. Louis EK, Pelletier A, Lim MM, Elliott JE, Gagnon JF, Gan-Or Z, Forsberg LK, Fields JA, Ross OA, Singer W, Huddleston DE, Bliwise DL, Avidan AY, Howell MJ, Schenck CH, McLeland J, Davis AA, Criswell SR, Videnovic A, During EH, Miglis MG, Boeve BF, Ju YES, McKeon A and the North American Prodromal Synucleinopathy (NAPS) Consortium. IGLON5 Frequency in idiopathic REM sleep behavior disorder: a multicenter study. Neurology: Neuroimmunology & Neuroinflammation. PubMed

• Somerville EM, Krohn L, Senkevich K, Yu E, Ahmad J, Asayesh F, Ruskey JA, Spiegelman D, Fahn S, Waters C, Sardi P, Alcalay RN and Gan-Or Z. Genome-wide association study of glucocerebrosidase activity modifiers. Under review. Preprint, PubMed

• Atterling Brolin K, Bäckström D, Wallenius J, Gan-Or Z, Puschmann A, Hansson O and Swanberg M. Is GBA1 T369M not a risk factor for Parkinson’s disease in the Swedish population? Under review. 2024. Preprint, PubMed

• Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilarino-Guell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Tocino TP, Amouri R, Ben Sassi S, Hentati F, Tonelli F, Alessi DB and Farrer MJ. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. Lancet Neurology. 2024. Preprint, PubMed

• Chertkow H, Phillips N, Rockwood K, Anderson N, Andrew MK, Bartha R, Beaudoin C, Bélanger N, Bellec P, Belleville S, Bergman H, Best S, Bethell J, Bherer L, Black S, Borrie M, Camicioli R, Carrier J, Cashman N, Chan S, Crowshoe L, Cuello C, Dang-Vu T, Das S, Dixon RA, Ducharme S, Einstein G,Evans AC, Fahnestock M, Feldman H, Ferland G, Finger E, Fisk J, Fogarty J, Fon E, Gan-Or Z, Gauthier S, Greenwood C, Henri-Bellemare C, Herrmann N, Hogan DB, Hsiung R, Itzhak I, Jacklin K, Lanctôt K, Lim A, MacKenzie I, Masellis M, Maxwell C, McAiney C, McGilton K, McLaurin J, Mihailidis A, Mohades Z, Montero-Odasso M, Morgan D, Naglie G, Nygaard H, O’Connell M, Pilon R, Rajah MN, Rapoport M, Roach P, Robillard JM, Rogaeva E, Rosa-Neto P, Rylett J, Sadavoy J, St. George-Hyslop P, Seitz D, Smith E, Stefanovic J, Tierney M, Vedel I, Walker JD, Wellington C, Whitehead V and Wittich W. Impact of a national dementia research consortium: The Canadian Consortium on Neurodegeneration in Aging (CCNA). Journal of Alzheimer Disease, in press. 2024. PubMed

• Jones-Tabah J, He K, Senkevich K, Karpilovsky N, Deyab G, Cousineau Y, Nikanorova D, Goldsmith T, del Cid Pellitero, Chen CXC, Luo W, You Z, Abdian N, Pietrantonio I, Goiran T, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z (co-corresponding author) and Fon EA. Parkinson's risk gene CTSB promotes α-synuclein clearance and lysosome function in dopamine neurons. Mol Neurodegener. 2024. Preprint, PubMed

• Anis S, Goldberg T, Shvueli E, Kozlov Y, Redlich Y, Lavi N, Lavie I, Sosero YL, Gan-Or Z, Ungar L, Zibly Z, Greenbaum L, Fay-Karmon T and Hassin-Baer S. Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson’s disease?. Parkinsonism and Related Disorders. 2024. PubMed

• Elliott J, Ligman B, Bryant-Ekstrand M, Keil A, Powers K, Olivio C, Neilson L, Postuma R, Pelletier A, Gagnon JF, Gan-Or Z, Yu E, Liu L, St. Louis E, Forsberg L, Fields J, Huddleston D, Bliwise D, Avidan A, Howell M, Schenck C, McLeland J, Criswell S, Videnovic A, During E, Miglis M, Shprecher D, Lee-Iannotti J, Boeve B, Ju YE and Lim M. Comorbid neurotrauma increases synucleinopathy-relevant cognitive, motor, and autonomic dysfunction in patients with REM sleep behavior disorder: A substudy of the North American Prodromal Synucleinopathy Consortium. Sleep. 2024. PubMed

• Senkevich K, Liu L, Alvarado CX, Leonard HL, Nalls MA and Gan-Or Z. Genetics of NLRP3 suggests lack of involvement and inefficient druggability in Parkinson′s disease. npj Parkinson's disease. 2024. Preprint, PubMed

• Sosero YL, Ferwerda B, Tocino MTP, Belloso DR, Gomez-Garre P, Faouzi J, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten J, Simon DK, Eberly S, Fernandez IA, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menendez M, Pastor P, Ross O, Kruger R, Corvol JC, Koks S, Mir P, de Bie RMA, Iwaki H and Gan-Or Z. Dopamine pathway and Parkinson’s risk variants are associated with levodopa-induced dyskinesia. Movement Disorders. 2024. Preprint, PubMed

• Menon PJ, Sambin S, Criniere-Boizet B, Courtin T, Tesson C, Casse F, Ferrien M, Mariani LL, Carvalho S, Lejeune FX, Rebbah S, Martet G, Houot M, Lanore A, Mangone G, Roze E, Vidailhet M, Aasly J, Gan-Or Z, Yu E, Dauvilliers Y, Zimprich A, Tomantschger V, Pirker W, Álvarez I, Pastor P, Di Fonzo A, Bhatia KP, Magrinelli F, Houlden H, Real R, Quattrone A, Limousin P, Korlipara P, Foltynie T, Grosset D, Williams N, Narendra D, Lin HP, Jovanovic C, Svetel M, Lynch T, Gallagher A, Vandenberghe W, Gasser T, Brockmann K, Morris HR, Borsche M, Klein C, Corti O, Brice A, Lesage S and Corvol JC. Genotype-Phenotype correlations in PRKN-associated Parkinson’s disease. npj Parkinson's Disease. 2024. Preprint, PubMed

• Chew EGY, Liu Z, Li Z, Chung SJ, Lian MM, Tandiono M, Heng YJ, Ng EY, Tan LCS, Chng WL, Tan TJ, Peh EKL, Ho YS, Chen XY, Lim YET, Chang CH, Leong JL, Peh TX, Chan LL, Chao Y, Au WL, Prakash KM, Lim JL, Tay YW, Mok V, Chan AYY, Lin JJ, Jeon BS, Song K, Tham CCY, Pang CP, Ahn J, Park KH, Wiggs JL, Aung T, Tan AH, Annuar AA, Makarious MB, Blauwendraat C, Nalls MA, Robak LA, Alcalay RN, Gan-Or Z, Reynolds R, Lim SY, Xia Y, Khor CC, Tan EK, Wang Z and Foo JN. Exome sequencing in Asian populations identifies Low-Frequency and Rare Coding Variation influencing Parkinson’s disease Risk. Nature Aging, in press. 2024. Preprint, PubMed

• Senkevich K, Bandres-Ciga S, Cisterna-García A, Yu E, Bustos BI, Krohn L, Lubbe SJ, Botía JA, the International Parkinson’s Disease Genomics Consortium (IPDGC) and Gan-Or Z. Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson’s disease. Under review. 2024. Preprint, PubMed

• Mick P, Kabir R, Karunatilake M, Kathleen Pichora-Fuller M, Young TL, Sosero Y, Gan-Or Z, Wittich W, Phillips NA. APOE - e4 is not associated with pure-tone hearing thresholds, visual acuity or cognition, cross-sectionally or over 3 years of follow up in the Canadian Longitudinal Study on Aging. Neurobiology of Aging. 2024. Preprint, PubMed

• Senkevich K, Miliukhina I, Zhuravlev A, Shumilova M, Beletskaia M, Skvortsova T, Yu E, Ahmad J, Asayesh F, Gan-Or Z, Emelyanov A and Pchelina S. Autosomal dominant Parkinson’s disease caused by SNCA p.E46K mutation in a family with Russian ancestry. Movement Disorders. 2024. PubMed

• Abbasi N, Tremblay C, Rajimehr R, Yu E, Markello RD, Shafiei G, Khatibi N, The ENIGMA-Parkinson's study, Jahanshad N, Thompson PM, Gan-Or Z, Misic B and Dagher A. Neuroanatomical correlates of polygenic risk for Parkinson Disease. Under review. 2024. Preprint

• Banks E, Kharfalla F, Fonov V, Bayati A, Francis V, Kulasekaran G, Tuznik M, Han C, Al-Khater R, Alkuraya F, Argyriou L, Barr E, Bartik L, Bertrand M, Buchert R, Cadieux-Dion M, Cope H, Cushing D, Durcan TM, Neira-Fresneda J, Froukh T, Gill H, Goh E, Haack T, Hashem M, Hauser S, Hoffman T, Hogue J, Huynh S, Kaulfuß S, Korenke G, Kritzer A, Marco E, McWalter K , Minassian A, Minassian B, Northrupraha H, Oehl-Jaschkowitz B, Osmond M, Saunders C, Schoels L, Zhou D, Gan-Or Z, Rudko D and McPherson P. DENND5A epileptic encephalopathy features global developmental delay, seizures and ventriculomegaly. Nature Communications, in press. 2024. Preprint

2023

• Gan-Or Z. Lessons and future directions for GBA1 targeting therapies. Lancet Neurology. 2023. PubMed

• Yu E, Larivière R, Thomas RA, Liu L, Senkevich K, Rahayel S, Trempe JF, Fon EA and Gan-Or Z. Machine learning nominates the inositol pathway and novel genes in Parkinson’s disease. Brain. Preprint, PubMed

• Senkevich K, Pelletier A, Sato C, Keil A, Gan-Or Z, Lang AE, Postuma RB, and Rogaeva E. Epigenetic clock acceleration is linked to earlier onset and phenoconversion age in REM sleep behavior disorder. Annals of Neurology. 2023. Preprint, PubMed

• Dorion MF, Senkevich K, Yaqubi M, Kieran NW, Chen CXQ, MacDonald A, Luo W, Wallis A, Shlaifer I, Hall JA, Dudley RWR, Glass IA, Birth Defects Research Laboratory, Stratton JA, Fon EA, Bartels T, Antel JP, Gan-Or Z, Durcan TM and Healy LM. MerTK mediates the immunologically silent uptake of alpha-synuclein fibrils by human microglia. Brain. 2023. Preprint, PubMed

• Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Zakharova E, Alcalay RN, Pchelina A and Gan-Or Z. Association of rare variants in ARSA with Parkinson’s disease. Movement Disorder. 2023. Preprint, PubMed

• Yu E, Krohn L, Ruskey JA, Asayesh F, Spiegelman D, Shah Z, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Hogl B, Stefani A, Ibrahim A, Heidbreder A, Sonka K, Dusek P, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Doring F, Cochen De Cock V, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Rouleau GA, Postuma RB, The International LBD Genomics Consortium, Scholz SW and Gan-Or Z. HLA in isolated REM sleep behavior disorder and Lewy body dementia. Annals of Clinical and Translational Neurology. 2023. Preprint, PubMed

• Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Leal TP, Miyashita ABellenguez C, Lian MM, Parveen K, Park H, Grenier-Boley B, Naito T, Küçükali F, Talyanski SD, Satake W, Yogeshwar SM, Sempere V, Alvarez V, B Arosio, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Düzel E, Galimberti D, Garcia-Ribas G, García-Alberca JM, García-González P, V Giedraitis, Goldhardt O, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jürgen D, Kuulasmaa T, Ling L, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Mercè B, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Nordestgaard BG, Oksenberg J, G Papenberg, Parnetti L, Pasquier F, Pastor P, O Peters, Pijnenburg YAL, Piñol-Ripoll G, Popp J, Porcel LM, Puerta R, Pérez-Tur J, I Rainero, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Royo JL, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sánchez-Valle R, Tegos T, Tremolizzo L, Vyhnalek M, Verhey F, Wiltfang J, Zhang J, Williams J, Amouyel P, Jessen F, Kehoe P, Andreassen O, Van Duin C, Tsolaki M, Sánchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Matta I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD and Mignot E. Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated Tau PHF6 sequences. Proceedings of the National Academy of Sciences (PNAS). 2023. Preprint, PubMed

• Somerville EN, Krohn L, Yu E, Rudakoua U, Senkevich K, Ruskey JA, Asayesh F, Ahmad J, Spiegelman D, Dauvilliers Y, Arnulf A, Hu MTM, Montplaisir JY, Gagnon JF, Desautel A, Ibrahim A, Stefani A, Hogl B, Gigli GL, Valente M, Janes F, Bernardini A, Duseko P, Sonka K, Kemlink D, Plazzi G, Antelmi E, Biscarini F, Mollenhauert B, Trenkwalder C, Sixel-Doring F, Figorilli M, Puligheddu M, Cochen De Cock V, Ferini-Strambi L, Heibreder A, Monaca CC, Abril B, Dijkstra F, Viaene M, Boeve BF, Postuma RB, Rouleaua GA and Gan-Or Z. NPC1 variants are not associated with Parkinson’s disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts. Neurobiology of Aging. 2023. Preprint, PubMed

• Senkevich K, Alipour P, Chernyavskaya E, Yu E, Noyce AJ and Gan-Or Z. Potential protective link between type I diabetes and Parkinson’s disease risk and progression. Movement Disorders. 2023. Preprint, PubMed

• Sosero YL and Gan-Or Z. LRRK2 and Parkinson’s disease: from genetics to targeted therapy. Annals of Clinical and Translationa Neurology. 2023. PubMed

• Jerez PA, Alcantud JL, de los Reyes-Ramírez L, Moore A, Ruz C, Vives Montero F, Rodriguez-Losada N, Saini P, Gan-Or Z, Alvarado C, Makarious MB, Billingsley KJ, Blauwendraat C, Noyce AJ, Singleton AB, Duran R and Bandres-Ciga S. Exploring the Genetic and Genomic Connection Underlying Neurodegeneration with Brain Iron Accumulation and the Risk for Parkinson’s Disease. npj Parkinson's Disease. 2023. Preprint, PubMed

• Rahayel S, Tremblay C, Vo A, Mišić B, Lehéricy S, Arnulf I, Vidailhet M, Corvol JC, the ICEBERG Study Group, Gagnon JF, Postuma RB, Montplaisir JY, Lewis S, Matar E, Martens KE, Borghammer P, Knudsen K, Hansen AK, Monchi O, Gan-Or Z* and Dagher A* (*equal contribution). Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies. Brain. 2023. Preprint, PubMed

• Parlar SC, Grenn FP, Kim JJ, Blauwendraat C and Gan-Or Z. Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser. Movement Disorders. 2023. Preprint, PubMed

• Morys F, Yu E, Shishikura M, Paquola C, Vainik U, Nave G, Koellinger P, Gan-Or Z and Dagher A. Neuroanatomical correlates of genetic risk for obesity in children. Translational Psychiatry. 2023. Preprint, PubMed

2022

• Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Abubaker I, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, 23andMe Research Team, Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB and Gan-Or Z. Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects. Nature Communications. 2022. Preprint, PubMed

• Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN and Gan-Or Z. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain. 2022. Preprint, PubMed

• Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva-Bennett K, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński L, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Akdemir ZHC, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV and Lupski JR. TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletions. American Journal of Human Genetics. 2022. PubMed

• Bustos BI, Billingsley K, Blauwendraat C, Gibbs JR, Gan-Or Z, Krainc D, Singleton AB and Lubbe SJ. Genome-wide contribution of common Short-Tandem Repeats to Parkinson’s Disease genetic risk. Brain. 2022. Preprint, PubMed

• Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI and Lubbe SJ. Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent. Neurrobiology of Aging. 2022. Preprint, PubMed

• Rebelo AP, Ruiz A, Dohrn M, Wayand M, Danzi M, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau GA, Estiar MA, Van der Vondel L, Gan-Or Z, Baets J, Schule R and Zuchner S. BiP  inactivation  due  to  loss  of  the  deAMPylation  function  of  FICD  causes  a motor neuron disease. Genetics in Medicine. 2022. PubMed

• Senkevich K and Gan-Or Z. No Association Between Rare TWNK Variants and Parkinson's Disease in European Cohorts. Movement Disorders. 2022. (letter). PubMed

• Al-Azzawi ZAM, Arfaie S and Gan-Or Z. GBA1 and The Immune System - A Potential Role in Parkinson’s Disease?. Journal of Parkinson’s Disease. 2022. PubMed

• Greenbaum L, Manzali S, Yu E, Ravona-Springer R, Livny A, Golan S, Ouyang Y, Lesman-Segev O, Ganmore I, Alkelai A, Gan-Or Z, Lin HM, Heymann A and Schnaider Beeri M. Alzheimer’s disease polygenic risk score is not associated with cognitive decline among older adults with type 2 diabetes. Frontiers in Aging Neuroscience. 2022. PubMed

• Periñán MT, Brolin K, Bandres-Ciga S, Blauwendraat C, Klein C, Gan-Or Z, Singleton A, Garre PG, Swanberg M, Mir P and Noyce A. Effect modification between genes and environment, and Parkinson’s disease risk. Annals of Neurology. 2022. PubMed

• Bowles KR, Pugh DP, Farrell K, Han N, TCW J, Liu Y, Liang SA, Qian L, Bendl J, Fullard JF, Renton AE, Casella A, Iida MA, Bandres-Ciga S, Gan-Or Z, Heutink P, Siitonen A, Bertelsen S, Karch C, Frucht S, Kopell BH, Peter I, Park YJ, Crane P, Kauwe JSK, Boehme KL, Hoglinger GU, Charney AW, Roussos P, Wang JC, Poon WW, Raj T, Crary JF and Goate AM. 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes. Molecular Neurodegeneration. 2022. PubMed, Preprint

• Högl B, Arnulf I, Bergmann M, Cesari M, Gan-Or Z, Heidbreder A, Iranzo A, Krohn L, Luppi PH, Mollenhauer B, Provini F, Santamaria J, Trenkwalder C, Videnovic A and Stefani A. Rapid eye movement sleep behaviour disorder: Past, present, and future. Journal of Sleep Research. 2022. PubMed

• Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA and Gan-Or Z. Genetic, structural and clinical analysis of spastic paraplegia 4. Parkinsonism and Related Disorders. 2022. PubMed, Preprint

• Paul F, Ng C, Nafissi S, Nilipoor Y, Tavasoli A, Bonnard C, Wong PM, Nabavizadeh N, Estiar MA, Majoie C, Lee H, Nelson S, Gan-Or Z, Rouleau GA, Van Veldhoven P, Massie R, Hennekam R and Kariminejad A. RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder. Human Molecular Genetics. 2022. PubMed, Preprint

2021

• Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L, Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM and Coleman MP. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. eLife. 2021. PubMed, Preprint

• Estiar MA, Lail N, Dyment DA, Varghaei P, Hartley T, Gillespie MK, Yoon G, Boycott KM, Rouleau GA and Gan-Or Z. Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia. Annals of Neurology. 2021. PubMed

• Tremblay C, Rahayel S, Vo A, Morys F, Shafiei G, Markello R, Gan-Or Z, Misic B and Dagher A. Brain atrophy progression in Parkinson’s disease is shaped by connectivity and local vulnerability. Brain Communications. 2021. PubMed, Preprint

• Senkevich K, Rudakou U and Gan-Or Z. New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin. Neuropharmacology. 2021. PubMed

• Surface M, Balwani M, Waters CH, Haimovich A, Gan-Or Z, Marder KS, Hsieh T, Song L, Padmanabhan S, Hsieh F, Merchant KM and Alcalay RN. Plasma glucosylsphingosine in glucocerebrosidase carriers with and without Parkinson disease. Movement Disorders. 2021. PubMed

• Suchowersky O, Ashtiani S, Au PYB, McLeod S, Estiar MA, Gan-Or Z and Rouleau GA. Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clinical Parkinsonism & Related Disorders. 2021. PubMed

• Sosero YL, Yu E, Estiar MA, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Ibrahim A, Stefani A, Högl B, Hu MTM, and Gan-Or Z. Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. Journal of Parkinson's Disease. 2021. PubMed, Preprint

• Pihlstrøm L, Fan CC, Frei O, Tan M, Blauwendraat C, Bandres-Ciga S, Gan-Or Z, Grosset DG, International Parkinson's Disease Genomics Consortium (IPDGC), Dale AM, Seibert TM and Andreassen OA. Genetic stratification of age-dependent Parkinson's disease risk by polygenic hazard score. Movement Disorders. 2021. PubMed

• Lake J, Reed X, Langston RG, Nalls MA, Gan-Or Z, Cookson MR, Singleton AB, Blauwendraat C and Leonard HL. Coding and non-coding variation in LRRK2 and Parkinson's Disease Risk. Movement Disorders. 2021. PubMed, Preprint

• Visanji NP, Ghani M, Yu E, Kakhki EG, Sato C, Moreno D, Naranian T, Poon YY, Abdollahi M, Naghibzadeh M, Rajalingam R, Lozano AM, Kalia SK, Hodaie M, Cohn M, Statucka M, Boutet A, Elias GJB, Germann J, Munhoz R, Lang AE, Gan-Or Z, Rogaeva E and Fasano A. Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach. Journal of Parkinson's disease. 2021. PubMed

• Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, the International Parkinson’s Disease Genomics Consortium (IPDGC), Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E and Gan-Or Z. Fine mapping of the HLA locus in Parkinson’s disease in Europeans. npj Parkinson's Disease. 2021. PubMed, Preprint

• Miglis MG, Adler CH, Antelmi E, Arnaldi D, Baldelli L, Boeve BH, Cesari M, Dall’Antonia I, Diederich NJ, Doppler K, Dušek P, Ferri R, Gagnon JF, Gan-Or Z, Hermann W, Hu M, Janzen A, Kuzkina A, Lee JY, Lewis SJG, Liu J, Ehgoetz Martens K, Plazzi G, Provini F, Puligheddu M, Rolinski M, Rusz J, Stefani A, Summers RLS, Yoo D, Zitser J and Oertel W. Biomarkers of Phenoconversion in Isolated REM Sleep Behaviour Disorder: A review by the International RBD Study Group. Lancet Neurology. 2021. PubMed

• Galosi S, Edani B, Martinelli S, Hansikova H, Eklund E, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch D, Ellis C, Amlie-Wolf L, Atallah I, Averdunk L, Baranano K, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek N, Venkateswaran S, Wheeler P, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa W, Lefeber D, Tartaglia M, Hamdan F, Grabinska K and Vincenzo V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2021. PubMed

• Brolin K, Bandres-Ciga S, Leonard H, Makarious MB, Blauwendraat C, Mata IF, Foo JN, Pihlstrøm L, Swanberg M, Gan-Or Z and Tan MMX. RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts. Neurobiology of Aging. 2021. PubMed, Preprint

• Leveille E, Ross OA and Gan-Or Z. MAPT genetics in tauopathies and synucleinopathies. Parkinsonism and Related Disorders. 2021. PubMed

• Sokratous M, Breza M, Senkevich K, Gan-Or Z, Kalampokini S, Spanaki C, Provatas A, Zaunmuktane Z, Valotassiou V, Georgoulias P, Efthymiou S, Hadjigeorgiou GM, Houlden H and Xiromerisiou G. Alpha-synuclein (SNCA) A30G mutation as a cause of a complex phenotype without parkinsonism. Movement Disorders. 2021. PubMed

• Xiromerisiou G, Bourinaris T, Houlden H, Lewis PA, Senkevich K, Hammer M, Federoff M, Khan A, Spanaki C, Hadjigeorgiou GM, Bonstanjopoulou S, Fidani L, Ermolaev A, Gan-Or Z, Singleton AB, Vandrovcova J and Hardy J. SORL1 mutation in a Greek family with Parkinson’s Disease and Dementia. Annals of Clinical and Translational Neurology. 2021. PubMed

• Torrealba-Acosta G*, Yu E* (equal contribution), Lobo-Prada T, Ruiz-Martínez J, Gorostidi-Pagola A, Gan-Or Z, Carazo-Céspedes K and Fornaguera-Trías J. Clinical and genetic analysis of Costa Rican patients with Parkinson’s disease. Frontiers in Neurology. 2021. PubMed, Preprint

• Oliveira LM, Rastin T, Nimmo GAM, Ross JP, Dion PA, Zhang M, Nevay DL, Arkadir D, Gotkine M, Barnett C, Shoesmith CL, Zimran A, Rogaeva EA, Zinman L, Rouleau GA, Gan-Or Z , Amato D and Kalia L. Occurrence of amyotrophic lateral sclerosis in type 1 Gaucher disease. Neurology Genetics. 2021. PubMed

• Estiar MA, Senkevich K, Yu E, Varghaei P, Krohn L, Bandres-Ciga S, Noyce AJ, Rouleau GA and Gan-Or Z. Lack of Causal Relationship or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease. Movement Disorders. 2021. PubMed, Preprint

• Saini P, Bandres-Ciga S, Alcantud JL, Ruz C and Gan-Or Z. Common and rare variants in HFE are not associated with Parkinson’s disease in Europeans. Neurobiology of Aging. 2021. PubMed, Preprint

• Sosero YL, Bandres-Ciga S, Gan-Or Z and Krohn L, on behalf of the International Parkinson’s Disease Genomics Consortium. Analysis of PTRHD1 common and rare variants in European patients with Parkinson’s disease. Neurobiology of Aging. 2021. PubMed, Preprint

• Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard H, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset D, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris H, Noyce AJ, Nalls and Singleton AB. Investigation of Autosomal Genetic Sex Differences in Parkinson’s disease. Annals of Neurology. 2021. PubMed, Preprint

• Varghaei P, Yoon G, Estiar MA, Veyron S, Leveille E, Dupre N, Trempe JF, Rouleau GA and Gan-Or Z. GCH1 mutations in hereditary spastic paraplegia. Clinical Genetics. 2021. PubMed, Preprint

• (* equal contribution) Chohan H*, Senkevich K*, Patel RK, Bestwick JP, Jacobs BM, Bandres Ciga S, Gan-Or Z and Noyce AJ. Type 2 diabetes as a determinant of Parkinson's disease risk and progression. Movement Disorders. 2021. PubMed, Preprint

• Senkevich K, Bandres-Ciga S, Yu E, Liyanage UE, the International Parkinson Disease Genomics Consortium (IPDGC), Noyce AJ and Gan-Or Z. No evidence for a causal relationship between cancers and Parkinson’s disease. Journal of Parkinson's Disease. 2021. PubMed, Preprint

• Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA and Gan-Or Z. Evidence for non-Mendelian inheritance in spastic paraplegia 7. Movement Disorders. 2021. PubMed, Preprint

• Le Guen Y, Napolioni V, Belloy ME, Yu E, Krohn L, Ruskey JA, Gan-Or Z, Kennedy G, Eger SJ and Greicius MD. Common X-chromosome variants are associated with Parkinson’s disease risk. Annals of Neurology. 2021. PubMed, Preprint

• Manzali SB, Ravona-Springer R, Alkelai A, Yu E, Gan-Or Z, Ganmore I, Heymann A, Schnaider Beeri M and Greenbaum L. Association of the CD2AP locus with cognitive functioning among middle aged individuals with a family history of Alzheimer’s disease. Neurobiology of Aging. 2021. PubMed

• Andersen MS, Bandres-Ciga S, Reynolds RH, Hardy J, Krohn L, Gan-Or Z, Holtman IR, International Parkinson's Disease Genomics Consortium and Pihlstrøm L. Common variant heritability implicates microglia in Parkinson's disease pathogenesis. Annals of Neurology. 2021. PubMed, Preprint

• Galper J, Balwani M, Fahn S, Waters C, Krohn L, Gan-Or Z, Dzamko N and Alcalay RN. Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease. Movement Disorders. 2021. PubMed

• Mufti K, Yu E, Rudakou U, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve B, Trempe JF, Rouleau GA, Postuma RB and Gan-Or Z. Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder. Neurology. 2021. PubMed, Preprint

• Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z and Dupré N. Genetic and epidemiological study of adult onset hereditary ataxia and spastic paraplegia in Eastern Quebec. Canadian Journal of Neurological Sciences. 2021. PubMed

• Ramezani M, Ruskey JA, Martens K, Kibreab M, Javer Z, Kathol I, Hammer T, Cheetham J, Leveille E, Martino D, Sarna JR, Gan-Or Z, Pfeffer G, Ismail Z and Monchi O. Association between BDNF Val66Met polymorphism and mild behavioral impairment in patients with Parkinson's disease. Frontiers in Neurology. 2021. PubMed

• Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PT, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein D, Lopez G, Tayebi N, Sidransky E, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai V, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki E, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, Beach TG, McKeith IG, Thomas AJ, Attems J, Morris CM, Palmer L, Love S, Troakes C, Al-Sarraj S, Hodges AK, Aarsland D, Klein G, Kaiser SM, Woltjer R, Pastor P, Bekris LM, Leverenz J, Besser LM, Kuzma A, Renton AE, Goate A, Bennett DA, Scherzer CR, Morris HR, Ferrari R, Albani D, Pickering-Brown S, Faber K, Kukull W, Morenas-Rodriguez E, Lleó A, Fortea J, Alcolea D, Clarimon J, Nalls MA, Ferrucci L, Resnick SM, Tanaka T, Foroud TM, Graff-Radford NR, Wszolek ZK, Ferman T, Boeve BF, Hardy JA, Topol E, Torkamani A, Singleton AB, Ryten M, Dickson D, Chiò A, Ross OA, Gibbs JR, Dalgard CL, Traynor BJ and Scholz SW. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture. Nature Genetics. 2021. PubMed, Preprint

• Ramezani M, Mouches P, Yoon E, Rajashekar D, Ruskey JA, Leveille E, Martens K, Kibreab M, Hammer T, Kathol I, Marouf N, Sarna J, Martino D, Pfeffer G, Gan-Or Z, Forkert ND and Monchi O. Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s Disease using machine learning. Scientific Reports. 2021. PubMed

• Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, International Parkinson Disease Genomics Consortium (IPDGC), Bandres-Ciga S, Alcalay RN, Gan-Or Z and Senkevich K. LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease. Neurobiology of Aging. 2021. PubMed, Preprint

2020

• Rudakou U, Yu E, Krohn L, Ruskey JA, Dauvilliers Y, Spiegelman D, Greenbaum L, Fahn S, Waters CH, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. Brain. 2020. PubMed, Preprint

• Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z and Lubbe SJ. Replication assessment of NUS1 variants in Parkinson’s Disease. Neurobiology of Aging. 2020. PubMed, Preprint

• Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB and Gan-Or Z. Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease. Neurobiology of Aging. 2020. PubMed, Preprint

• Senkevich K, Bandres-Ciga S, Gan-Or Z and Krohn L. Lack of evidence for association of UQCRC1 with Parkinson’s disease in Europeans. Neurobiology of Aging. 2020. PubMed, Preprint

• von Linstow CU, Gan-Or Z and Brundin P. Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More Personal. Translational Neurodegeneration. 2020. 9(1):39. PubMed

• Mufti K, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA and Gan-Or Z. Comprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder. Movement Disorders. 2020. PubMed, Preprint

• Yu E, Rudakov U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease. Movement Disorders. 2020. PubMed, Preprint

• Alcalay RN, Wolf P, Chiang MSR, Helesicova K, Zhang XK, Merchant K, Hutten SJ, Scherzer C, Caspell-Garcia C, Blauwendraat C, Foroud T, Nudelman K, Gan-Or Z, Simuni T, Chahine LM, Levy O, Zheng D, Li G and Sardi SP. Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients. Annals of Clinical and Translational Neurology. In press. 2020. PubMed

• Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset D, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N and Morris HR. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease. Neurobiology of Aging. 2020. PubMed, Preprint

• Sosero YL, Bandres-Ciga S, Hassin-Baer S, Alcalay RN and Gan-Or Z. Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease. Brain. 2020. PubMed, Preprint

• Bis-Brewer DM, Gan-Or Z, Sleiman P, Inherited Neuropathy Consortium, Hakonarson H, Fazal S,  Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupre N, Cheng A, Lloyd TE, Rouleau GA, Schüle R and Züchner S. Assessing non-Mendelian Inheritance in Inherited Axonopathies. Genetics in Medicine. 2020. PubMed

• Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW and Ross OA. GBA variation and susceptibility to multiple system atrophy. Parkinsonism and Related Disorders. 2020. 77:64-69. PubMed

• Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or Z. GBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. PubMed, Preprint

• Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A , Pihlstrom L, Torkamani A, Scholz SW, Traynor B, Ehrlich D, Scherzer CR,Bookman M, Cookson M, Blauwendraat C, Nalls MA and Singleton AB. Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson Disease. Acta Neuropathologica. 2020. PubMed, Preprint

• Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB and Blauwendraat C. Comprehensive assessment of PINK1 variants in Parkinson’s disease. Neurobiology of Aging. 2020. PubMed , Preprint

• Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB, 23andMe Research Team, Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA and Gan-Or Z. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. 2020. PubMed , Preprint

• Rudakou U, Futhey NC, Krohn L, Ruskey JA, Heilbron K, Cannon P, The 23andMe Research Team, Alam A, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Toffoli M, Gigli GL, Valente M, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Beatriz A, Boeve BF, Postuma RB, Rouleau GA and Gan-Or Z. SMPD1 variants do not have a major role in REM sleep behavior disorder. Neurobiology of Aging. 2020. PubMed, Preprint

• Espay AJ, Kalia LV, Gan-Or Z, Williams-Gray C, Bedard PL, Rowe SM, Morgante F, Fasano A, Stecher B, Kauffman MA, Farrer MJ, Coffey CS, Schwarzschild MA, Postuma RB, Sherer T, Strafella AP, Singleton AB, Barker RA, Kieburtz K, Olanow CW, Cedarbaum JM, Standaert DG and Lang AE. Biomarker Development and Disease Modification in Parkinson’s disease: Revision or Reconstruction?. Neurology. 2020. PubMed

• Estiar MA, Leveille E, Spiegelman D, Dupre N, Trempe JF, Rouleau GA and Gan-Or Z. Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype. Molecular Genetics and Genomics Medicine. 2020. PubMed

• Ji S, Wang C, Qiao H, Gu Z, Gan-Or Z, Fon EA and Chan P. Decreased penetrance of PD associated with heterozygous GBA p.L444P/R in an elderly cohort. Movement Disorders. 2020. PubMed

• 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. 2020. PubMed

• 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. 2020. 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. 2020. PubMed, Preprint

• 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.  2020. PubMed, Preprint

• Yahalom G, Rigbi A, Israeli-Korn S, Krohn L, Rudakou U, Ruskey JA, Benshimol L, Tsafnat T, Gan-Or Z, Hassin-Baer S and Greenbaum L. Age at Onset of Parkinson’s Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations. Journal of Parkinson’s Disease. 2020. PubMed

• Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, Greenbaum L, Hassin-Baer S, Rouleau GA, Alcalay RN, Fon EA and Gan-Or Z. Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson’s disease. Neurobiology of Aging. 2020. PubMed, Preprint

2019

• Senkevich K and Gan-Or Z. Lysosomal dysfunction in Parkinson’s disease; evidence from human genetics. Parkinsonism and Related Disorders. 2019. Review. PubMed

• Kim JJ, Bandres-Ciga S, Blauwendraat C, International Parkinson’s Disease Genomics Consortium and Gan-Or Z. No evidence for a role of variation in alcohol dehydrogenase genes in the risk for Parkinson’s disease. Neurobiology of Aging. 2019. PubMed, Preprint

• Akçimen F, Ross JP, Sarayloo F, Liao C, Oliveira RDB, Ruskey JA, Bourassa CV, Xiong L, Dion PA, Gan-Or Z and Rouleau GA. Genetic and epidemiological characterization of restless legs syndrome in Québec. Sleep. 2019. PubMed

• 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. 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

• 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

• 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 Disease. Journal of Medical Genetics. 2019. PubMed, Preprint

• 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. 2019. PubMed

• 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, Gan-Or Z, 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. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet Neurology. 2019. PubMed, Preprint

• 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. 2019. PubMed, Preprint

• 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

• 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

• 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

• 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

• Honeycutt L, Montplaisir JY, Gagnon JF, Ruskey JA, Pelletier A, 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

• 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. 2019. PubMed, Preprint

• 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

• 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, Preprint

• 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, Preprint

2018

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

• 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

• 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

• 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

• 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

• 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

• 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

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

• 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

• 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

• Yao C, Fereshtehnejad SM, Dawson BK, Pelletier A, Gan-Or Z, 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

• 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

• 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

• 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

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

• 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

• 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

2017

• 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

• 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

• Wolf P, Alcalay RN, Liong C, Cullen E, Paciulo MW, Nichols WC, Gan-Or Z, 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

• 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, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AF, Shah SH, Gieger C, Peters A, Rouleau 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

• 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

• 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

• 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

• 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, 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

2016

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

• (*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

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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

2015

• 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

• 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, Dion PA and Rouleau GA. Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease. Autophagy. 2015. (review). 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. PARK16 haplotypes and the importance of protective genetic factors in Parkinson’s disease. Journal of Human Genetics. 2015. (letter). 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, 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, 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

• 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, 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

• 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

2008 - 2014

• (*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

• 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

• 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, 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

• 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

• 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, 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

• 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

• 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

• 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

• 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