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
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Coding and non-coding variation in LRRK2 and Parkinson’s Disease Risk.
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.
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
SORL1 mutation in a Greek family with Parkinson’s Disease and Dementia
Xiromerisiou G, Bourinaris T, Houlden H, Lewis PA, Senkevich K, Hammer M, Federoff M, Khan A, Spanaki C, Hadjigeorgiou GM, Bonstanjopoulou S, Fidani L, Ermolaev A, Gan-Or Z, Singleton AB, Vandrovcova J and Hardy J. SORL1 mutation in a Greek family with Parkinson’s Disease and Dementia. Annals of Clinical and Translational Neurology. 2021. PubMed