Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. 

Sosero YL, Yu E, Estiar MA, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, 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, Ibrahim A, Stefani A, Högl B, Hu MTM, and Gan-Or Z. Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. Journal of Parkinson’s Disease. 2021. PubMed, Preprint

Genetic stratification of age-dependent Parkinson’s disease risk by polygenic hazard score.

Pihlstrøm L, Fan CC, Frei O, Tan M, Blauwendraat C, Bandres-Ciga S, Gan-Or Z, Grosset DG, International Parkinson’s Disease Genomics Consortium (IPDGC), Dale AM, Seibert TM and Andreassen OA. Genetic stratification of age-dependent Parkinson’s disease risk by polygenic hazard score. Movement Disorders. 2021. PubMed

Coding and non-coding variation in LRRK2 and Parkinson’s Disease Risk.

Lake J, Reed X, Langston RG, Nalls MA, Gan-Or Z, Cookson MR, Singleton AB, Blauwendraat C and Leonard HL. Coding and non-coding variation in LRRK2 and Parkinson’s Disease Risk. Movement Disorders. 2021. PubMed, Preprint

Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach. 

Visanji NP, Ghani M, Yu E, Kakhki EG, Sato C, Moreno D, Naranian T, Poon YY, Abdollahi M, Naghibzadeh M, Rajalingam R, Lozano AM, Kalia SK, Hodaie M, Cohn M, Statucka M, Boutet A, Elias GJB, Germann J, Munhoz R, Lang AE, Gan-Or Z, Rogaeva E and Fasano A. Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach. Journal of Parkinson’s disease. 2021. PubMed

Fine mapping of the HLA locus in Parkinson’s disease in Europeans. 

Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, the International Parkinson’s Disease Genomics Consortium (IPDGC), Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E and Gan-Or Z. Fine mapping of the HLA locus in Parkinson’s disease in Europeans. npj Parkinson’s Disease. 2021. PubMed, Preprint

Biomarkers of Phenoconversion in Isolated REM Sleep Behaviour Disorder: A review by the International RBD Study Group

Miglis MG, Adler CH, Antelmi E, Arnaldi D, Baldelli L, Boeve BH, Cesari M, Dall’Antonia I, Diederich NJ, Doppler K, Dušek P, Ferri R, Gagnon JF, Gan-Or Z, Hermann W, Hu M, Janzen A, Kuzkina A, Lee JY, Lewis SJG, Liu J, Ehgoetz Martens K, Plazzi G, Provini F, Puligheddu M, Rolinski M, Rusz J, Stefani A, Summers RLS, Yoo D, Zitser J and Oertel W. Biomarkers of Phenoconversion in Isolated REM Sleep Behaviour Disorder: A review by the International RBD Study Group. Lancet Neurology. 2021. PubMed

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Galosi S, Edani B, Martinelli S, Hansikova H, Eklund E, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch D, Ellis C, Amlie-Wolf L, Atallah I, Averdunk L, Baranano K, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek N, Venkateswaran S, Wheeler P, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa W, Lefeber D, Tartaglia M, Hamdan F, Grabinska K and Vincenzo V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2021. PubMed

RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts. 

Brolin K, Bandres-Ciga S, Leonard H, Makarious MB, Blauwendraat C, Mata IF, Foo JN, Pihlstrøm L, Swanberg M, Gan-Or Z and Tan MMX. RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts. Neurobiology of Aging. 2021. PubMed, Preprint

MAPT genetics in tauopathies and synucleinopathies. 

Leveille E, Ross OA and Gan-Or Z. MAPT genetics in tauopathies and synucleinopathies. Parkinsonism and Related Disorders. 2021. PubMed

Alpha-synuclein (SNCA) A30G mutation as a cause of a complex phenotype without parkinsonism.

Sokratous M, Breza M, Senkevich K, Gan-Or Z, Kalampokini S, Spanaki C, Provatas A, Zaunmuktane Z, Valotassiou V, Georgoulias P, Efthymiou S, Hadjigeorgiou GM, Houlden H and Xiromerisiou G. Alpha-synuclein (SNCA) A30G mutation as a cause of a complex phenotype without parkinsonism. Movement Disorders. 2021. PubMed