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Listar por tema "alpha synuclein"

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    • 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). ...

    • Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease 

      Papapetropoulos, S.; Paschalis, C.; Athanassiadou, A.; Papadimitriou, A.; Ellul, J.; Polymeropoulos, M. H.; Papapetropoulos, Th (2001)
      Objective - An Ala53Thr mutation of the α-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the ...

    • Genetic and molecular pathogenesis of Parkinson's disease 

      Agorogiannis, E. I.; Agorogiannis, G. I.; Papadimitriou, A.; Hadjigeorgiou, G. M. (2006)
      Parkinson's disease (PD), a common progressive degenerative disease of the central nervous system, affects about 1% of adults aged older than 60 years. PD is characterized by rigidity, tremor, postural instability and ...

    • Genetic risk factors for essential tremor: A review 

      Siokas V., Aloizou A.-M., Tsouris Z., Liampas I., Aslanidou P., Dastamani M., Brotis A.G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2020)
      Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ...

    • Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture 

      Chia R., Sabir M.S., Bandres-Ciga S., Saez-Atienzar S., Reynolds R.H., Gustavsson E., Walton R.L., Ahmed S., Viollet C., Ding J., Makarious M.B., Diez-Fairen M., Portley M.K., Shah Z., Abramzon Y., Hernandez D.G., Blauwendraat C., Stone D.J., Eicher J., Parkkinen L., Ansorge O., Clark L., Honig L.S., Marder K., Lemstra A., St George-Hyslop P., Londos E., Morgan K., Lashley T., Warner T.T., Jaunmuktane Z., Galasko D., Santana I., Tienari P.J., Myllykangas L., Oinas M., Cairns N.J., Morris J.C., Halliday G.M., Van Deerlin V.M., Trojanowski J.Q., Grassano M., Calvo A., Mora G., Canosa A., Floris G., Bohannan R.C., Brett F., Gan-Or Z., Geiger J.T., Moore A., May P., Krüger R., Goldstein D.S., Lopez G., Tayebi N., Sidransky E., Sotis A.R., Sukumar G., Alba C., Lott N., Martinez E.M.G., Tuck M., Singh J., Bacikova D., Zhang X., Hupalo D.N., Adeleye A., Wilkerson M.D., Pollard H.B., Norcliffe-Kaufmann L., Palma J.-A., Kaufmann H., Shakkottai V.G., Perkins M., Newell K.L., Gasser T., Schulte C., Landi F., Salvi E., Cusi D., Masliah E., Kim R.C., Caraway C.A., Monuki E.S., Brunetti M., Dawson T.M., Rosenthal L.S., Albert M.S., Pletnikova O., Troncoso J.C., Flanagan M.E., Mao Q., Bigio E.H., Rodríguez-Rodríguez E., Infante J., Lage C., González-Aramburu I., Sanchez-Juan P., Ghetti B., Keith J., Black S.E., Masellis M., Rogaeva E., Duyckaerts C., Brice A., Lesage S., Xiromerisiou G., Barrett M.J., Tilley B.S., Gentleman S., Logroscino G., Serrano G.E., Beach T.G., McKeith I.G., Thomas A.J., Attems J., Morris C.M., Palmer L., Love S., Troakes C., Al-Sarraj S., Hodges A.K., Aarsland D., Klein G., Kaiser S.M., Woltjer R., Pastor P., Bekris L.M., Leverenz J.B., Besser L.M., Kuzma A., Renton A.E., Goate A., Bennett D.A., Scherzer C.R., Morris H.R., Ferrari R., Albani D., Pickering-Brown S., Faber K., Kukull W.A., Morenas-Rodriguez E., Lleó A., Fortea J., Alcolea D., Clarimon J., Nalls M.A., Ferrucci L., Resnick S.M., Tanaka T., Foroud T.M., Graff-Radford N.R., Wszolek Z.K., Ferman T., Boeve B.F., Hardy J.A., Topol E.J., Torkamani A., Singleton A.B., Ryten M., Dickson D.W., Chiò A., Ross O.A., Gibbs J.R., Dalgard C.L., Traynor B.J., Scholz S.W., The American Genome Center (2021)
      The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this ...

    • Identification of a prospective early motor progression cluster of Parkinson's disease: Data from the PPMI study 

      Vavougios G.D., Doskas T., Kormas C., Krogfelt K.A., Zarogiannis S.G., Stefanis L. (2018)
      Aim: The aim of our study is to phenotype PD motor progression, and to detect whether serum, cerebrospinal fluid (CSF), neuroimaging biomarkers and neuropsychological measures characterize PD motor progression phenotypes. ...

    • 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 ...

    • Large-scale replication and heterogeneity in Parkinson disease genetic loci 

      Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)
      Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...

    • Mitochondrial dynamics and proteins related to neurodegenerative diseases 

      Alexiou A., Nizami B., Khan F.I., Soursou G., Vairaktarakis C., Chatzichronis S., Tsiamis V., Manztavinos V., Yarla N.S., Md Ashraf G. (2018)
      Disruptions in the regulation of mitochondrial dynamics and the occurrence of proteins misfolding lead to neuronal death, resulting in Age-related Dementia and Neurodegenerative diseases as well as Frailty. Functional, ...

    • Motor and Nonmotor Features of Carriers of the p.A53T Alpha-Synuclein Mutation: A Longitudinal Study 

      Papadimitriou D., Antonelou R., Miligkos M., Maniati M., Papagiannakis N., Bostantjopoulou S., Leonardos A., Koros C., Simitsi A., Papageorgiou S.G., Kapaki E., Alcalay R.N., Papadimitriou A., Athanassiadou A., Stamelou M., Stefanis L. (2016)
      Background: G209A SNCA mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A SNCA mutation carriers. Methods: Longitudinal clinical assessments over 2 years were ...

    • Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance? 

      Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)
      The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...

    • Mycobacterial immunomodulation and viral manipulation of neuronal copper efflux in the setting of sporadic Parkinson's disease: A multi – hit, outside – in hypothesis of its pathogenesis 

      Vavougios G.D. (2020)
      Following Braak's hypothesis on the infectious pathogenesis of sporadic Parkinson's disease (sPD), several bacteria and viruses have been investigated as likely culprits. Recent research has focused on neuroinvasive influenza ...

    • Neurodegeneration and inflammation—an interesting interplay in parkinson’s disease 

      Marogianni C., Sokratous M., Dardiotis E., Hadjigeorgiou G.M., Bogdanos D., Xiromerisiou G. (2020)
      Parkinson’s disease (PD) is a neurodegenerative disorder, caused by, so far, unknown pathogenetic mechanisms. There is no doubt that pro-inflammatory immune-mediated mechanisms are pivotal to the pathogenicity and progression ...

    • Post-COVID-19 Parkinsonism and Parkinson’s Disease Pathogenesis: The Exosomal Cargo Hypothesis 

      Mysiris D.S., Vavougios G.D., Karamichali E., Papoutsopoulou S., Stavrou V.T., Papayianni E., Boutlas S., Mavridis T., Foka P., Zarogiannis S.G., Gourgoulianis K., Xiromerisiou G. (2022)
      Parkinson’s disease (PD) is the second most prevalent neurodegenerative disease after Alzheimer’s disease, globally. Dopaminergic neuron degeneration in substantia nigra pars compacta and aggregation of misfolded alpha-synuclein ...

    • The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants 

      Heckman, M. G.; Elbaz, A.; Soto-Ortolaza, A. I.; Serie, D. J.; Aasly, J. O.; Annesi, G.; Auburger, G.; Bacon, J. A.; Boczarska-Jedynak, M.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Dardiotis, E.; Destée, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gispert, S.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lin, C. H.; Lohmann, K.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Opala, G.; Park, S. S.; Petrucci, S.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Vassilatis, D. K.; Vilariño-Güell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J.; Ross, O. A. (2014)
      The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the ...

    • α-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 G.M., Houlden H., Xiromerisiou G. (2021)
      [No abstract available]