Açık Akademik Arşiv Sistemi

Browsing Makale Koleksiyonu by Author "Iskender, C; Kartal, E; Akcimen, F; Kocoglu, C; Ozoguz, A; Kotan, D; Eraksoy, M; Parman, YG; Basak, AN;"

Browsing Makale Koleksiyonu by Author "Iskender, C; Kartal, E; Akcimen, F; Kocoglu, C; Ozoguz, A; Kotan, D; Eraksoy, M; Parman, YG; Basak, AN;"

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  • 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 ...