• The Collaborative Ocular Tuberculosis Study (COTS)-1 Report 3: Polymerase Chain Reaction in the Diagnosis and Management of Tubercular Uveitis: Global Trends 

      Agarwal A., Agrawal R., Gunasekaran D.V., Raje D., Gupta B., Aggarwal K., Murthy S.L., Westcott M., Chee S.P., McCluskey P., Ling H.S., Teoh S., Cimino L., Biswas J., Narain S., Agarwal M., Mahendradas P., Khairallah M., Jones N., Tugal-Tutkun I., Babu K., Basu S., Carreño E., Lee R., Al-Dhibi H., Bodaghi B., Invernizzi A., Goldstein D.A., Herbort C.P., Barisani-Asenbauer T., González-López J.J., Androudi S., Bansal R., Moharana B., Mahajan S., Esposti S., Tasiopoulou A., Nadarajah S., Agarwal M., Abraham S., Vala R., Singh R., Sharma A., Sharma K., Zierhut M., Kon O.M., Cunningham E., Nguyen Q.D., Pavesio C., Gupta V. (2019)
      Purpose: To analyze the role of polymerase chain reaction (PCR) of ocular fluids in management of tubercular (TB) anterior, intermediate, posterior, and panuveitis. Methods: In Collaborative Ocular Tuberculosis Study ...
    • The epidemiology, staging and outcomes of sarcomatoid hepatocellular carcinoma: A SEER population analysis 

      Giannis D., Morsy S., Geropoulos G., Esagian S.M., Sioutas G.S., Moris D. (2021)
      Background: Hepatocellular carcinoma (HCC) subtypes differ in terms of histopathology and prognosis. Sarcomatoid HCC is rare and literature concerning the survival of patients with sarcomatoid HCC is scarce. Materials and ...
    • Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype 

      Patrinos, G. P.; Samperi, P.; Nigro, L. I.; Kollia, P.; Schiliro, G.; Papadakis, M. N. (2005)
      There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at ...
    • Large-scale assessment of polyglutamine repeat expansions in Parkinson disease 

      Wang L., Aasly J.O., Annesi G., Bardien S., Bozi M., Brice A., Carr J., Chung S.J., Clarke C., Crosiers D., Deutschländer A., Eckstein G., Farrer M.J., Goldwurm S., Garraux G., Hadjigeorgiou G.M., Hicks A.A., Hattori N., Klein C., Jeon B., Kim Y.J., Lesage S., Lin J.-J., Lynch T., Lichtner P., Lang A.E., Mok V., Jasinska-Myga B., Mellick G.D., Morrison K.E., Opala G., PihlstrØm L., Pramstaller P.P., Park S.S., Quattrone A., Rogaeva E., Ross O.A., Stefanis L., Stockton J.D., Silburn P.A., Theuns J., Tan E.K., Tomiyama H., Toft M., Van Broeckhoven C., Uitti R.J., Wirdefeldt K., Wszolek Z., Xiromerisiou G., Yueh K.-C., Zhao Y., Gasser T., Maraganore D.M., Krüger R., Sharma M. (2015)
      Objectives: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). Methods: We invited researchers from the Genetic ...
    • 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 ...
    • 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 ...
    • The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database 

      Marogianni C., Rikos D., Provatas A., Dadouli K., Ntellas P., Tsitsi P., Patrinos G., Dardiotis E., Hadjigeorgiou G., Xiromerisiou G. (2019)
      A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) cases predominantly ...
    • A systematic review and meta-analysis of pharmacogenetic studies in patients with chronic kidney disease 

      Tziastoudi M., Pissas G., Raptis G., Cholevas C., Eleftheriadis T., Dounousi E., Stefanidis I., Theoharides T.C. (2021)
      Chronic kidney disease (CKD) is an important global public health problem due to its high prevalence and morbidity. Although the treatment of nephrology patients has changed considerably, ineffectiveness and side effects ...