Tugce A. Uzunhan-Aksu
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 10 publications
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Journal: Clinical neurology and neurosurgery
Published: August 14, 2022
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.
Journal: Clinical neurology and neurosurgery
Published: November 30, 2021
Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome.
Journal: Acta neurologica Belgica
Published: November 20, 2021
Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
Journal: Clinical neurology and neurosurgery
Published: February 16, 2020
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation.
Journal: Brain & development
Published: February 13, 2020
A case of juvenile Canavan disease with distinct pons involvement.
Journal: Brain & development
Published: August 18, 2019
A tertiary care center's experience with febrile seizures: evaluation of 632 cases.
Journal: Minerva pediatrica
Published: June 05, 2015
A rare cause of acute cerebellar ataxia: familial hemophagocytic lymphohistiocytosis.
Journal: Pediatric neurology
Published: February 26, 2014
Varicella-induced diaphragmatic flutter in a 12-year-old girl.
Journal: Pediatric neurology
Published: May 01, 2013
Showing 1-10 of 10
Last Updated: 09/26/2026