Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease.

Yu ERudakov UKrohn L, Mufti K, Ruskey JAAsayesh FEstiar 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 ZAnalysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease. Movement Disorders. 2020. PubMedPreprint

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 patientsAnnals 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 ERuskey 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 diseaseNeurobiology of Aging. 2020. PubMedPreprint

Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease.

Sosero YL, Bandres-Ciga S, Hassin-Baer S, Alcalay RN and Gan-Or ZLack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease. Brain. 2020. PubMedPreprint

 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 LRuskey JARudakou ULeveille EAsayesh 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 ZGBA variants in REM sleep behavior disorder: a multicenter study. Neurology. 2020. PubMedPreprint

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 DiseaseActa Neuropathologica. 2020. PubMedPreprint

Comprehensive assessment of PINK1 variants in Parkinson’s disease.

Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB and Blauwendraat C. Comprehensive assessment of PINK1 variants in Parkinson’s disease. Neurobiology of Aging. 2020. PubMed Preprint

Krohn LWu 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 ZFine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies. Annals of Neurology. 2020. PubMed Preprint