Yu E, Rudakov U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease. Movement Disorders. 2020. PubMed, Preprint
Category: Publications
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients.
Alcalay RN, Wolf P, Chiang MSR, Helesicova K, Zhang XK, Merchant K, Hutten SJ, Scherzer C, Caspell-Garcia C, Blauwendraat C, Foroud T, Nudelman K, Gan-Or Z, Simuni T, Chahine LM, Levy O, Zheng D, Li G and Sardi SP. Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients. Annals of Clinical and Translational Neurology. In press. 2020. PubMed
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease
Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset D, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N and Morris HR. Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease. Neurobiology of Aging. 2020. PubMed, Preprint
Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease.
Assessing non-Mendelian Inheritance in Inherited Axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P, Inherited Neuropathy Consortium, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupre N, Cheng A, Lloyd TE, Rouleau GA, Schüle R and Züchner S. Assessing non-Mendelian Inheritance in Inherited Axonopathies. Genetics in Medicine. 2020. PubMed
GBA variation and susceptibility to multiple system atrophy.
Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW and Ross OA. GBA variation and susceptibility to multiple system atrophy. Parkinsonism and Related Disorders. 2020. 77:64-69. PubMed
Krohn L, Ruskey JA, Rudakou U, Leveille E, Asayesh F, Hu MTM, Arnulf I, Dauvilliers Y, Högl B, Stefani A, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Heidbreder A, Boeve BF, Espay AJ, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Desautels A, Montplaisir JY, Postuma RB, Rouleau GA and Gan-Or Z. GBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. PubMed, Preprint
Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson Disease.
Bandres-Ciga S, Saez-Atienzar S, Kim JJ, Makarious MB, Faghri F, Diez-Fairen M, Iwaki H, Leonard H, Botia J, Ryten M, Hernandez D, Gibbs JR, Ding J, Gan-Or Z, Noyce A , Pihlstrom L, Torkamani A, Scholz SW, Traynor B, Ehrlich D, Scherzer CR,Bookman M, Cookson M, Blauwendraat C, Nalls MA and Singleton AB. Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson Disease. Acta Neuropathologica. 2020. PubMed, Preprint
Comprehensive assessment of PINK1 variants in Parkinson’s disease.
Krohn L, Wu RYJ, Heilbron K, Ruskey JA, Laurent SB, Blauwendraat C, Alam A, Arnulf I, Hu MTM, Dauvilliers Y, Högl B, Toft M, Bjørnarå KA, Stefani A, Holzknecht E, Monaca CC, Beatriz A, Plazzi G, Antelmi E, Ferini-Strambi L, Young P, Heidbreder A, Cochen De Cock V, Mollenhauer B, Sixel-Döring F, Trenkwalder C, Sonka K, Kemlink D, Figorilli M, Puligheddu M, Dijkstra F, Viaene M, Oertel W, Toffoli M, Gigli GL, Valente M, Gagnon JF, Nalls MA, Singleton AB, 23andMe Research Team, Desautels A, Montplaisir JY, Cannon P, Ross OA, Boeve BF, Dupré N, Fon EA, Postuma RB, Pihlstrøm L, Rouleau GA and Gan-Or Z. Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. 2020. PubMed , Preprint