Browsing by Author "Uzunhan, Tugce Aksu"
Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy Uzunhan, Tugce Aksu; Uyanik, BÜLENT (2020-09-01)
Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations Uzunhan, Tugce Aksu; Erturk, Biray; Cubuk, Pelin Ozyavuz; Uyanik, BÜLENT; Ayaz, Akif; Akan, Onur; Ozdemir, Taha Resid (2020-01-01)Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.
Bektas, Gonca; YEŞİL, GÖZDE; Ozkan, Melis Ulak; Yildiz, Edibe Pembegul; Uzunhan, Tugce Aksu; Caliskan, Mine (2018-08-01)Background: Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic ...