Now showing items 1-8 of 8

    • Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation 

      Demirayak, Pınar; Onat, Onur Emre; Gevrekci, A. Ö.; Gülsüner, S.; Uysal, H.; Bilgen, R.; Doerschner, Katja; Özçelik, Tayfun; Boyacı, Hüseyin (Turkish Society of Radiology, 2018)
      PURPOSE Congenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. In healthy controls, unilateral ...
    • The genetic structure of the Turkish population reveals high levels of variation and admixture 

      Kars, Meltem Ece; Başak, A. N.; Onat, Onur Emre; Bilguvar, K.; Choi, J.; Itan, Y.; Çağlar, C.; Palvadeau, R.; Casanova, J.-L.; Cooper, D. N.; Stenson, P. D.; Yavuz, A.; Buluş, H.; Günel, M.; Friedman, J. M.; Özçelik, Tayfun (National Academy of Sciences, 2020-12-18)
      The construction of population-based variomes has contributed substantially to our understanding of the genetic basis of human inherited disease. Here, we investigated the genetic structure of Turkey from 3,362 unrelated ...
    • Identification of a novel missense mutation in RAD51 in a large family with congenital mirror movements 

      Onat, Onur Emre; Gülsüner, Süleyman; Bilgen, R.; Dal, G. M.; Bilguvar, K.; Boyacı, Hüseyin; Doerschner, Katja; Uysal, H.; Günel, M.; Özçelik, Tayfun (American Society of Human Genetics, 2012-11)
      Congenital mirror movements (CMM) are a rare and heterogeneous group of disorders characterized by involuntary contralateral movements of mainly the upper extremities during intentional movements on the opposite side. ...
    • Identification of ATP8A2 gene mutation in a consaguineous family segregating cerebellar atrophy and quadrupedal gait 

      Onat, Onur Emre (Bilkent University, 2012)
      Cerebellar ataxia, mental retardation, and dysequilibrium syndrome is a rare and heterogeneous neurodevelopmental disorder characterized by cerebellar atrophy, dysarthric speech, and quadrupedal locomotion. Here, a ...
    • In silico identification of candidate MECP2 targets and quantitative analysis in rett syndrome 

      Onat, Onur Emre (Bilkent University, 2006)
      Rett syndrome (RTT) is an X-linked neuro-developmental disorder seen exclusively girls in the childhood. It is one of the most common causes of mental retardation with an incidence rate of 1/10,000-1/15,000. Mutations ...
    • Mitochondrial serine protease HTRA2 p.G3999S in a kindred with essential tremor and Parkinson disease 

      Gülümser, Hilal Ünal; Gulsuner, S.; Mercan, F. N.; Onat, Onur Emre; Walsh, T.; Shahin, H.; Lee, M. K.; Dogu, O.; Kansu, T.; Topaloglu, H.; Elibol, B.; Akbostanci, C.; King, M. C.; Özçelik, Tayfun; Tekinay, Ayşe B. (National Academy of Sciences, 2014)
      Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the ...
    • Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases 

      Akar, Ö. S.; Güneş, S.; Abur, U.; Altundağ, E.; Aşçı, R.; Onat, Onur Emre; Özçelik, Tayfun; Oğur, G. (Wiley, 2020-06-04)
      46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype ...
    • Reply to tzoulis et al.: genetic and clinical heterogeneity of essential tremor 

      Gülsuner, Hilal Ünal; Gülsuner, S.; Mercan, F.; Onat, Onur Emre; Walsh, T.; Shahin, H.; Lee, M.; Dogu, O.; Kansu, T.; Topaloglu, H.; Elibol, B.; Akbostanci, C.; King, M. -C.; Özçelik, Tayfun; Tekinay, Ayse B. (National Academy of Sciences, 2015)
      In addressing our recent report of HTRA2 p.G399S as the gene and mutation responsible for essential tremor and subsequent Parkinson disease in a large kindred (1), Tzoulis et al. (2) screened this mutation in patients with ...