Category: Publications

Assaedi E, Ashtiani S, Estiar MA, Gan-Or Z, McKenzie ED, Shetty A, Rouleau G, Suchowersky O. Hereditary Spastic Paraplegia in Alberta: Lessons from a Well-Defined Cohort Including the Indigenous Population. Mov Disord Clin Pract. 2025. 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. Mol Neurobiol. 2025. Preprint, PubMed

Parlar SC, Senkevich K, Yu E, Ruskey JA, Ahmad J, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Alcalay RN, Fon EA, Trempe JF, Gan-Or Z. LRRK2 rare-variant per-domain genetic burden in Parkinson’s Disease: association confined to the kinase domain. NPJ Parkinsons Dis. 2025. 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, Deconinck T, 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, Synofzik M. Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025. 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. Ann Neurol. 2025. Preprint, Pubmed

Ngo A, Liu L, Larivière S, Kebets V, Fett S, Weber CF, Royer J, Yu E, Rodríguez-Cruces R, Zhang Z, Qi Rong Ooi L, Yeo BTT, Birgit Frauscher B, Paquola C, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Bonilha L, Gleichgerrcht E, Focke NK, Kotikalapudi R, O’Brien TJ, Sinclair B, Vivash L, Desmond PM, Lui E, Vaudano AE, Meletti S, Kälviäinen R, Soltanian-Zadeh H, Winston GP, Tiwari VK, Kreilkamp BAK, Lenge M, Guerrini R, Hamandi K, Rüber T, Bauer T, Devinsky O, Striano P, Kaestner E, Hatton SN, Caciagli L, Kirschner M, Duncan JS, Thompson PM, ENIGMA Consortium Epilepsy Working Group, McDonald CR, Sisodiya SM, Bernasconi N, Bernasconi A, Gan-Or Z and Bernhardt BC. Associations between epilepsy-related polygenic risk and brain morphology in childhood. 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, Postuma RB. Plasma pTau181 and amyloid markers predict conversion to dementia in idiopathic REM sleep behaviour disorder. Brain. 2025. Preprint, PubMed

Degoutin M, Angelini C, Bar C, El Khedoud WA, Barnerias C, Boulariah-Hadjou R, Estiar MA, Ewenczyk C, Gan-Or Z, Lacombe D, Lefeuvre C, Majethia P, Messaoud-Khelifi M, Narayanan DL, Rouleau GA, Suchowersky O, Shukla A, Guillaud-Bataille M, Stevanin G, Goizet C. From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants. Eur J Neurol. 2025. Preprint, PubMed

Laugwitz L, Buchert R, Olguín P, Estiar MA, Atanasova M, Jr WM, Enssle J, Marsden B, Avilés J, González-Gutiérrez A, 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, Ashtiani S, Suchowersky O, Groeschel S, Rouleau GA, Yosovich K, Michelson M, Leibovitz Z, Bilal M, Uctepe E, Yesilyurt A, Ozdogan O, Celik T, Krägeloh-Mann I, Riess O, Rosewich H, Umair M, Lev D, Zuchner S, Schweizer U, Lynch DS, Gan-Or Z, Haack TB. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration. Am J Hum Genet. 2025. Preprint, PubMed

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