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
Blog
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
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
No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts.
Senkevich K and Gan-Or Z. No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts. Movement Disorders. 2022. (letter). PubMed
BA1 and The Immune System – A Potential Role in Parkinson’s Disease?
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
Alzheimer’s disease polygenic risk score is not associated with cognitive decline among older adults with type 2 diabetes.
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
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