Açık Akademik Arşiv Sistemi

Browsing Makale Koleksiyonu by Author "Ece Kartal"

Browsing Makale Koleksiyonu by Author "Ece Kartal"

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  • The distinct genetic pattern of ALS in Turkey and novel mutations 
    Aslihan Ozoguz; Ozgun Uyan; Gunes Birdal; Ceren Iskender; Ece Kartal; Suna Lahut; Ozgur Omur; Zeynep Sena Agim; Asli Gundogdu Eken; Nesli Ece Sen; Pinar Kavak; Ceren Saygi; Peter C. Sapp; Pamela Keagle; Yesim Parman; Ersin Tan; Filiz Koc; Feza Deymeer; Piraye Oflazer; Hasmet Hanagasi; Hakan Gurvit; Basar Bilgic; Hacer Durmus; Mustafa Ertas; Kotan Dündar, Dilcan (ELSEVIER SCIENCE INC, 2015)
    The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we ...
  • Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11 
    Ceren Iskender; Ece Kartal; Fulya Akcimen; Cemile Kocoglu; Aslihan Ozoguz; Kotan Dündar, Dilcan; Mefkure Eraksoy; Yesim G. Parman; Ayse Nazli Basak (LIPPINCOTT WILLIAMS & WILKINS, 2015)
    Conclusions: Four patients with juvenile-onset motor neuron disease with consanguineous parents were found to carry homozygous mutations in the SPG11 gene. Our findings confirm the overlapping phenotypes of SPG11-based ...