Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.

Estiar MAYu 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 ZDigenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders. Under review. 2026. Preprint, PubMed

Neuroanatomical correlates of polygenic risk for Parkinson Disease.

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. 2026. Preprint, PubMed

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Zhu R, Liu L, Estiar MA, Asayesh F, Ahmad J, Teferra M, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Jordanova A, Lee YC, Stevanin G, Zuchner S, Rouleau GA, Gan-Or Z. Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. Mov Disord. 2025. Preprint, PubMed.

Lack of Association Between G6PD Variants and Parkinson’s Disease

Chifamba LV, Parlar SC, Liu L, Sokol LL, Yu E, Asayesh F, Ahmad J, Ruskey JA, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Timofeeva A, Emelyanov A, Pchelina S, Miliukhina I, Greenbaum L, Hassin-Baer S, Alcalay RN, Espay AJ, Gan-Or Z, Senkevich K. Lack of Association Between G6PD Variants and Parkinson’s Disease. HGG Adv. 2025. Preprint, PubMed.

No Evidence for Genetic Role of the Tumor Necrosis Factor Pathway in Parkinson’s Disease.

Shahkhali MG, Liu L, Somerville EN, Noyce AJ, Gan-Or Z, Senkevich K. No Evidence for Genetic Role of the Tumor Necrosis Factor Pathway in Parkinson’s Disease. NPJ Parkinsons Dis. 2025. 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, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Šonka K, Kemlink D, Oertel WH, Kaivola K, 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, Anselmi V, Ibrahim A, Stefani A, Högl B, Hu MTM, Scholz SW, Gan-Or Z. Lack of epistatic interaction of SNCA with APOE in synucleinopathies. Brain Commun. 2025. Preprint, PubMed

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson’s Disease Susceptibility

Parlar SC, Lee Y, Gan-Or Z. GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson’s Disease Susceptibility. Mov Disord. 2025. Preprint, PubMed.

Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction

Alhusaini S, Dayanim G, Kandil M, Krohn L, Molino J, Gan-Or Z, Dagher A. Parkinson Disease SNCA Risk Variants Are Associated With Higher Asymmetric Putamen Dopaminergic Dysfunction. Neurol Genet. 2025. PubMed.

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

Gavrielatos M, Heckman MG, Soto-Beasley AI, Blumenfeld SG, Hou X, Koga S, Murray ME, Kasanuki K, Ono D, Fiesel FC, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR, Ertekin-Taner N, Gibbs JR, Traynor BJ, Dalgard CL, Savica R, Graff-Radford J, Petersen RC, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Springer W, Gan-Or Z, Mignot E, Scholz SW, Dickson DW, Ross OA. Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease. Ann Neurol. 2025. PubMed

Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease

Sosero YL, Heilbron K, Fontanillas P, Norcliffe-Kaufmann L, Yu E, Rudakou U, Ruskey JA, Freeman K, Asayesh F, Brolin KA, Swanberg M, Morris HR, Wu L, Real R, Pihlstrøm L, Tan M, Gasser T, Brockmann K, Liu H, Hu MTM, Grosset DG, Lewis SJG, Kwok JB, Pastor P, Alvarez I, Skorvanek M, Lackova A, Ostrozovicova M, Rizig M; 23andMe Research Team; International Parkinson’s Disease Genomics Consortium; Krohn L, Gan-Or Z. Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease. NPJ Parkinsons Dis. 2025. PubMed.