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
Category: Publications
Effect modification between genes and environment, and Parkinson’s disease risk.
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
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes.
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
Rapid eye movement sleep behaviour disorder: Past, present, and future.
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
Genetic, structural and clinical analysis of spastic paraplegia 4.
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
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder.
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
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
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
Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
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
Brain atrophy progression in Parkinson’s disease is shaped by connectivity and local vulnerability.
New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin.
Senkevich K, Rudakou U and Gan-Or Z. New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin. Neuropharmacology. 2021. PubMed