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 RiskMovement 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 LEstiar MASaini PSenkevich KSosero YL, Sreelatha AAK, Ruskey JAAsayesh 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 Europeansnpj 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 GroupLancet 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 myoclonusBrain. 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 cohortsNeurobiology of Aging. 2021. PubMed, Preprint

MAPT genetics in tauopathies and synucleinopathies. 

Leveille E, Ross OA and Gan-Or ZMAPT 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 parkinsonismMovement 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 DementiaAnnals of Clinical and Translational Neurology. 2021. PubMed

Clinical and genetic analysis of Costa Rican patients with Parkinson’s disease.

Torrealba-Acosta G*, Yu E* (equal contribution), Lobo-Prada T, Ruiz-Martínez J, Gorostidi-Pagola A, Gan-Or Z, Carazo-Céspedes K and Fornaguera-Trías J. Clinical and genetic analysis of Costa Rican patients with Parkinson’s diseaseFrontiers in Neurology. 2021. PubMedPreprint