LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease.

Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, International Parkinson Disease Genomics Consortium (IPDGC), Bandres-Ciga S, Alcalay RN, Gan-Or Z and Senkevich K. LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease. Neurobiology of Aging. 2021. PubMed, Preprint

Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. 

Rudakou U, Yu E, Krohn L, Ruskey JA, Dauvilliers Y, Spiegelman D, Greenbaum L, Fahn S, Waters CH, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN and Gan-Or Z. Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. Brain. 2020. PubMed, Preprint

Replication assessment of NUS1 variants in Parkinson’s Disease.

Bustos BI, Bandres-Ciga S, Gibbs JR, Krainc D, Mencacci NE, Gan-Or Z and Lubbe SJ. Replication assessment of NUS1 variants in Parkinson’s Disease. Neurobiology of Aging. 2020. PubMed, Preprint

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease. 

Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB and Gan-Or Z. Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease. Neurobiology of Aging. 2020. PubMed, Preprint

Lack of evidence for association of UQCRC1 with Parkinson’s disease in Europeans.

Senkevich K, Bandres-Ciga S, Gan-Or Z and Krohn L. Lack of evidence for association of UQCRC1 with Parkinson’s disease in Europeans. Neurobiology of Aging. 2020. PubMed, Preprint

Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More Personal

von Linstow CU, Gan-Or Z and Brundin P. Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More Personal. Translational Neurodegeneration. 2020. 9(1):39. PubMed

Comprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder.

Mufti K, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, 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 and Gan-Or Z. Comprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder. Movement Disorders. 2020. PubMed, Preprint

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

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

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