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. 2024. Preprint, PubMed
Month: October 2024
Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson’s disease pathogenesis.
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
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
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
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
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
Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies.
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
Advancing Parkinson’s Disease Research in Canada: The Canadian Open Parkinson Network (C-OPN).
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
GLON5 Frequency in idiopathic REM sleep behavior disorder: a multicenter study.
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. Neurol Neuroimmunol Neuroinflamm. 2024. PubMed
Genome-wide association study of glucocerebrosidase activity modifiers.
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
RAB32 Ser71Arg in autosomal dominant Parkinson’s disease: linkage, association, and functional analyses.
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
Impact of a national dementia research consortium: The Canadian Consortium on Neurodegeneration in Aging (CCNA)
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). J Alzheimers Dis. 2024. PubMed