Açık Akademik Arşiv Sistemi

Browsing Makale Koleksiyonu by Author "Cemile Kocoglu"

Browsing Makale Koleksiyonu by Author "Cemile Kocoglu"

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  • Phenotypic and Genotypic Analysis of Hereditary Ataxia Patients in Sakarya City, Turkey 
    Saadet Sayan; Dilcan Kotan; Kotan Dündar, Dilcan; Asli Gundogdu-Eken; Irmak Sahbaz; Cemile Kocoglu; A. Nazli Basak (AVES, 2019)
    Conclusion: Hereditary ataxias are rare neurodegenerative disorders. Large genetic pool, ethnic and local differences complicate diagnosing even further. Our study contributes to the literature by reflecting phenotypic and ...
  • 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 ...