Now showing items 1-3 of 3

    • Neuro-ophthalmologic findings in humans with quadrupedal locomotion 

      Sarac O.; Gulsuner, S.; Yildiz-Tasci, Y.; Ozcelik, T.; Kansu, T. (2012)
      Purpose: To report the neuro-ophthalmologic findings in four patients from the same family with cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ)2 associated with quadrupedal locomotion. Method: A ...
    • De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder 

      Dong, S.; Walker, M.F.; Carriero, N.J.; DiCola, M.; Willsey, A.; Ye, A.Y.; Waqar, Z.; Gonzalez L.E.; Overton J.D.; Frahm, S.; Keaney J.F.; III, Teran, N.A.; Dea J.; Mandell J.D.; HusBal V.; Sullivan, C.A.; DiLullo, N.M.; Khalil, R.O.; Gockley J.; Yuksel, Z.; Sertel, S.M.; Ercan-Sencicek, A.G.; Gupta, A.R.; Mane, S.M.; Sheldon, M.; Brooks, A.I.; Roeder, K.; Devlin, B.; State, M.W.; Wei L.; Sanders, S.J. (Elsevier, 2014)
      Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the reliable detection of de ...
    • Structures of the E46K mutant-type α-synuclein protein and impact of E46K mutation on the structures of the wild-type α-synuclein protein 

      Wise-Scira O.; Dunn, A.; Aloglu, A.K.; Sakallioglu I.T.; Coskuner O. (2013)
      The E46K genetic missense mutation of the wild-type α-synuclein protein was recently identified in a family of Spanish origin with hereditary Parkinson's disease. Detailed understanding of the structures of the monomeric ...