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 ...