• Alpha-synuclein repeat variants and survival in parkinson's disease 

      Chung, S. J.; Biernacka, J. M.; Armasu, S. M.; Anderson, K.; Frigerio, R.; Aasly, J. O.; Annesi, G.; Bentivoglio, A. R.; Brighina, L.; Chartier-Harlin, M. C.; Goldwurm, S.; Hadjigeorgiou, G.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Krüger, R.; Lesage, S.; Markopoulou, K.; Mellick, G.; Morrison, K. E.; Puschmann, A.; Tan, E. K.; Crosiers, D.; Theuns, J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z. K.; Elbaz, A.; Maraganore, D. M.; Yahalom, G.; Orlev, Y.; Cohen, O. S.; Kozlova, E.; Friedman, E.; Inzelberg, R.; Hassin-Baer, S. (2014)
      Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ...
    • Association of α-synuclein Rep1 polymorphism and Parkinson's disease: Influence of Rep1 on age at onset 

      Hadjigeorgiou, G. H.; Xiromerisiou, G.; Gourbali, V.; Aggelakis, K.; Scarmeas, N.; Papadimitriou, A.; Singleton, A. (2006)
      The α-synuclein Rep1 polymorphism was studied in patients and controls in an ethnic Greek population. There was an association of allele 2 with risk of Parkinson's disease (PD; adjusted odd ratio = 3.25; 95% CI = 1.80-5.87). ...
    • Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores 

      de Rojas I., Moreno-Grau S., Tesi N., Grenier-Boley B., Andrade V., Jansen I.E., Pedersen N.L., Stringa N., Zettergren A., Hernández I., Montrreal L., Antúnez C., Antonell A., Tankard R.M., Bis J.C., Sims R., Bellenguez C., Quintela I., González-Perez A., Calero M., Franco-Macías E., Macías J., Blesa R., Cervera-Carles L., Menéndez-González M., Frank-García A., Royo J.L., Moreno F., Huerto Vilas R., Baquero M., Diez-Fairen M., Lage C., García-Madrona S., García-González P., Alarcón-Martín E., Valero S., Sotolongo-Grau O., Ullgren A., Naj A.C., Lemstra A.W., Benaque A., Pérez-Cordón A., Benussi A., Rábano A., Padovani A., Squassina A., de Mendonça A., Arias Pastor A., Kok A.A.L., Meggy A., Pastor A.B., Espinosa A., Corma-Gómez A., Martín Montes A., Sanabria Á., DeStefano A.L., Schneider A., Haapasalo A., Kinhult Ståhlbom A., Tybjærg-Hansen A., Hartmann A.M., Spottke A., Corbatón-Anchuelo A., Rongve A., Borroni B., Arosio B., Nacmias B., Nordestgaard B.G., Kunkle B.W., Charbonnier C., Abdelnour C., Masullo C., Martínez Rodríguez C., Muñoz-Fernandez C., Dufouil C., Graff C., Ferreira C.B., Chillotti C., Reynolds C.A., Fenoglio C., Van Broeckhoven C., Clark C., Pisanu C., Satizabal C.L., Holmes C., Buiza-Rueda D., Aarsland D., Rujescu D., Alcolea D., Galimberti D., Wallon D., Seripa D., Grünblatt E., Dardiotis E., Düzel E., Scarpini E., Conti E., Rubino E., Gelpi E., Rodriguez-Rodriguez E., Duron E., Boerwinkle E., Ferri E., Tagliavini F., Küçükali F., Pasquier F., Sanchez-Garcia F., Mangialasche F., Jessen F., Nicolas G., Selbæk G., Ortega G., Chêne G., Hadjigeorgiou G., Rossi G., Spalletta G., Giaccone G., Grande G., Binetti G., Papenberg G., Hampel H., Bailly H., Zetterberg H., Soininen H., Karlsson I.K., Alvarez I., Appollonio I., Giegling I., Skoog I., Saltvedt I., Rainero I., Rosas Allende I., Hort J., Diehl-Schmid J., Van Dongen J., Vidal J.-S., Lehtisalo J., Wiltfang J., Thomassen J.Q., Kornhuber J., Haines J.L., Vogelgsang J., Pineda J.A., Fortea J., Popp J., Deckert J., Buerger K., Morgan K., Fließbach K., Sleegers K., Molina-Porcel L., Kilander L., Weinhold L., Farrer L.A., Wang L.-S., Kleineidam L., Farotti L., Parnetti L., Tremolizzo L., Hausner L., Benussi L., Froelich L., Ikram M.A., Deniz-Naranjo M.C., Tsolaki M., Rosende-Roca M., Löwenmark M., Hulsman M., Spallazzi M., Pericak-Vance M.A., Esiri M., Bernal Sánchez-Arjona M., Dalmasso M.C., Martínez-Larrad M.T., Arcaro M., Nöthen M.M., Fernández-Fuertes M., Dichgans M., Ingelsson M., Herrmann M.J., Scherer M., Vyhnalek M., Kosmidis M.H., Yannakoulia M., Schmid M., Ewers M., Heneka M.T., Wagner M., Scamosci M., Kivipelto M., Hiltunen M., Zulaica M., Alegret M., Fornage M., Roberto N., van Schoor N.M., Seidu N.M., Banaj N., Armstrong N.J., Scarmeas N., Scherbaum N., Goldhardt O., Hanon O., Peters O., Skrobot O.A., Quenez O., Lerch O., Bossù P., Caffarra P., Dionigi Rossi P., Sakka P., Hoffmann P., Holmans P.A., Fischer P., Riederer P., Yang Q., Marshall R., Kalaria R.N., Mayeux R., Vandenberghe R., Cecchetti R., Ghidoni R., Frikke-Schmidt R., Sorbi S., Hägg S., Engelborghs S., Helisalmi S., Botne Sando S., Kern S., Archetti S., Boschi S., Fostinelli S., Gil S., Mendoza S., Mead S., Ciccone S., Djurovic S., Heilmann-Heimbach S., Riedel-Heller S., Kuulasmaa T., del Ser T., Lebouvier T., Polak T., Ngandu T., Grimmer T., Bessi V., Escott-Price V., Giedraitis V., Deramecourt V., Maier W., Jian X., Pijnenburg Y.A.L., Smith A.D., Saenz A., Bizzarro A., Lauria A., Vacca A., Solomon A., Anastasiou A., Richardson A., Boland A., Koivisto A., Daniele A., Greco A., Marianthi A., McGuinness B., Fin B., Ferrari C., Custodero C., Ferrarese C., Ingino C., Mangone C., Reyes Toso C., Martínez C., Cuesta C., Muchnik C., Joachim C., Ortiz C., Besse C., Johansson C., Zoia C.P., Laske C., Anastasiou C., Palacio D.L., Politis D.G., Janowitz D., Craig D., Mann D.M., Neary D., Jürgen D., Daian D., Belezhanska D., Kohler E., Castaño E.M., Koutsouraki E., Chipi E., De Roeck E., Costantini E., Vardy E.R.L.C., Piras F., Roveta F., Piras F., Prestia F.A., Assogna F., Salani F., Sala G., Lacidogna G., Novack G., Wilcock G., Thonberg H., Kölsch H., Weber H., Boecker H., Etchepareborda I., Piaceri I., Tuomilehto J., Lindström J., Laczo J., Johnston J., Deleuze J.-F., Harris J., Schott J.M., Priller J., Bacha J.I., Snowden J., Lisso J., Mihova K.Y., Traykov L., Morelli L., Brusco L.I., Rainer M., Takalo M., Bjerke M., Del Zompo M., Serpente M., Sanchez Abalos M., Rios M., Peltonen M., Herrman M.J., Kosmidis M.H., Kohler M., Rojo M., Jones M., Orsini M., Medel N., Olivar N., Fox N.C., Salvadori N., Hooper N.M., Galeano P., Solis P., Bastiani P., Mecocci P., Passmore P., Heun R., Antikainen R., Olaso R., Perneczky R., Germani S., López-García S., Love S., Mehrabian S., Bagnoli S., Kochen S., Andreoni S., Teipel S., Todd S., Pickering-Brown S., Natunen T., Tegos T., Laatikainen T., Strandberg T., Polvikoski T.M., Matoska V., Ciullo V., Cores V., Solfrizzi V., Lisetti V., Sevillano Z., Abdelnour C., Aguilera N., Alarcon E., Alegret M., Benaque A., Boada M., Buendia M., Cañabate P., Carracedo A., Corbatón-Anchuelo A., Diego S., Espinosa A., Gailhajenet A., Gil S., Guitart M., Hernández I., Ibarria M., Lafuente A., Macias J., Maroñas O., Martín E., Martínez M.T., Marquié M., Mauleón A., Montrreal L., Moreno-Grau S., Moreno M., Orellana A., Ortega G., Pancho A., Pelejá E., Pérez-Cordon A., Preckler S., Quintela I., Real L.M., Rosende-Roca M., Ruiz A., Sáez M.E., Sanabria A., Serrano-Rios M., Sotolongo-Grau O., Tárraga L., Valero S., Vargas L., Adarmes-Gómez A.D., Alarcón-Martín E., Alonso M.D., Álvarez I., Álvarez V., Amer-Ferrer G., Antequera M., Antúnez C., Baquero M., Bernal M., Blesa R., Boada M., Buiza-Rueda D., Bullido M.J., Burguera J.A., Calero M., Carrillo F., Carrión-Claro M., Casajeros M.J., Clarimón J., Cruz-Gamero J.M., de Pancorbo M.M., del Ser T., Diez-Fairen M., Escuela R., Garrote-Espina L., Fortea J., Franco-Macías E., Frank-García A., García-Alberca J.M., Garcia Madrona S., Garcia-Ribas G., Gómez-Garre P., Hernández I., Hevilla S., Jesús S., Labrador Espinosa M.A., Lage C., Legaz A., Lleó A., Lopez de Munain A., López-García S., Macias-García D., Manzanares S., Marín M., Marín-Muñoz J., Marín T., Marquié M., Martín Montes A., Martínez B., Martínez C., Martínez V., Martínez-Lage Álvarez P., Medina M., Mendioroz Iriarte M., Mir P., Molinuevo J.L., Pastor P., Pérez-Tur J., Periñán-Tocino T., Pineda-Sanchez R., Piñol-Ripoll G., Rábano A., Real de Asúa D., Rodrigo S., Rodríguez-Rodríguez E., Royo J.L., Ruiz A., Sanchez del Valle Díaz R., Sánchez-Juan P., Sastre I., Valero S., Vicente M.P., Vigo-Ortega R., Vivancos L., Macleod C., McCracken C., Brayne C., Bresner C., Grozeva D., Bellou E., Sommerville E.W., Matthews F., Leonenko G., Menzies G., Windle G., Harwood J., Phillips J., Bennett K., Luckuck L., Clare L., Woods R., Saad S., Burholt V., Jansen I.E., Rongve A., Kehoe P.G., Garcia-Ribas G., Sánchez-Juan P., Pastor P., Lopez de Munain A., García-Alberca J.M., Bullido M.J., Álvarez V., Real L.M., Scheltens P., Holstege H., Marquié M., Sáez M.E., Amouyel P., Schellenberg G.D., Williams J., Seshadri S., van Duijn C.M., Mather K.A., Sánchez-Valle R., Serrano-Ríos M., Orellana A., Tárraga L., Blennow K., Huisman M., Andreassen O.A., Posthuma D., Clarimón J., Boada M., van der Flier W.M., Ramirez A., Lambert J.-C., van der Lee S.J., Ruiz A., EADB contributors, The GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia (2021)
      Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
    • Genetic determinants of C1 inhibitor deficiency angioedema age of onset 

      Gianni P., Loules G., Zamanakou M., Kompoti M., Csuka D., Psarros F., Magerl M., Moldovan D., Maurer M., Speletas M.G., Farkas H., Germenis A.E. (2017)
      Background: In view of the large heterogeneity in the clinical presentation of hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE), great efforts are being made towards detecting measurable biological ...
    • Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence from the COURAGE-PD Consortium 

      Grover S., Sreelatha A.A.K., Pihlstrom L., Domenighetti C., Schulte C., Sugier P.-E., Radivojkov-Blagojevic M., Lichtner P., Mohamed O., Portugal B., Landoulsi Z., May P., Bobbili D., Edsall C., Bartusch F., Hanussek M., Krüger J., Hernandez D.G., Blauwendraat C., Mellick G.D., Zimprich A., Pirker W., Tan M., Rogaeva E., Lang A., Koks S., Taba P., Lesage S., Brice A., Corvol J.-C., Chartier-Harlin M.-C., Mutez E., Brockmann K., Deutschländer A.B., Hadjigeorgiou G.M., Dardiotis E., Stefanis L., Simitsi A.M., Valente E.M., Petrucci S., Straniero L., Zecchinelli A., Pezzoli G., Brighina L., Ferrarese C., Annesi G., Quattrone A., Gagliardi M., Burbulla L.F., Matsuo H., Kawamura Y., Hattori N., Nishioka K., Chung S.J., Kim Y.J., Pavelka L., Van De Warrenburg B.P.C., Bloem B.R., Singleton A.B., Aasly J., Toft M., Guedes L.C., Ferreira J.J., Bardien S., Carr J., Tolosa E., Ezquerra M., Pastor P., Diez-Fairen M., Wirdefeldt K., Pedersen N.L., Ran C., Belin A.C., Puschmann A., Hellberg C., Clarke C.E., Morrison K.E., Krainc D., Farrer M.J., Kruger R., Elbaz A., Gasser T., Sharma M. (2022)
      Background and Objectives Considerable heterogeneity exists in the literature concerning genetic determinants of the age at onset (AAO) of Parkinson disease (PD), which could be attributed to a lack of well-powered replication ...
    • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases 

      Marogianni C., Georgouli D., Dadouli K., Ntellas P., Rikos D., Hadjigeorgiou G.M., Spanaki C., Xiromerisiou G. (2021)
      Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with isolated and complex early-onset generalized dystonia. We describe clinico-genetic features on a Greek patient ...
    • Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 

      Elbaz, A.; Ross, O. A.; Ioannidis, J. P. A.; Soto-Ortolaza, A. I.; Moisan, F.; Aasly, J.; Annesi, G.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Destée, A.; Ferrarese, C.; Ferraris, A.; Gibson, J. M.; Gispert, S.; Hadjigeorgiou, G. M.; Jasinska-Myga, B.; Klein, C.; Krüger, R.; Lambert, J. C.; Lohmann, K.; Van De Loo, S.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Stefanis, L.; Uitti, R. J.; Valente, E. M.; Vilariño-Güell, C.; Wirdefeldt, K.; Wszolek, Z. K.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J. (2011)
      Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...
    • Integrins AV and B8 Gene Polymorphisms and Risk for Intracerebral Hemorrhage in Greek and Polish Populations 

      Dardiotis E., Siokas V., Zafeiridis T., Paterakis K., Tsivgoulis G., Dardioti M., Grigoriadis S., Simeonidou C., Deretzi G., Zintzaras E., Jagiella J., Hadjigeorgiou G.M. (2017)
      Α limited number of genetic variants have been linked to the development of intracerebral hemorrhage (ICH). Ιntegrin AV and/or B8-deficient mice were found to develop ICH. The present candidate gene association study was ...
    • Neither replication nor simulation supports a role for the axon guidance pathway in the genetics of Parkinson's disease 

      Li, Y.; Rowland, C.; Xiromerisiou, G.; Lagier, R. J.; Schrodi, S. J.; Dradiotis, E.; Ross, D.; Bui, N.; Catanese, J.; Aggelakis, K.; Grupe, A.; Hadjigeorgiou, G. (2008)
      Susceptibility to sporadic Parkinson's diseases (PD) is thought to be influence by both genetic and environmental factors and thier interaction with each other. Statistical models including multiples variants in axon ...
    • TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis 

      Ntellas P., Dardiotis E., Sevdali E., Siokas V., Aloizou A.-M., Tsinti G., Germenis A.E., Hadjigeorgiou G.M., Eibel H., Speletas M. (2020)
      Recent studies implicate B cells in multiple sclerosis (MS) pathogenesis, and consequently, several molecules participating in B cell survival and proliferation, including B-cell activating factor (BAFF), have recently ...