Semra H. Kurul
Dokuz Eylul, Turkey
Last Updated: 09/26/2026
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Found 19 publications
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 19, 2024
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Journal: Cerebellum (London, England)
Published: March 27, 2024
Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature.
Journal: Annals of Indian Academy of Neurology
Published: February 01, 2023
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Journal: Nature communications
Published: November 14, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
Journal: Brain : a journal of neurology
Published: October 08, 2021
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Journal: Annals of neurology
Published: November 11, 2019
Electrophysiological Subtypes and Prognostic Factors of Childhood Guillain-Barré Syndrome.
Journal: Noro psikiyatri arsivi
Published: March 13, 2016
An 11-Year-Old Boy with Headache, Fever, and Neck Pain.
Journal: Pediatric annals
Published: October 17, 2015
Capillary malformation-arteriovenous malformation syndrome with spinal involvement.
Journal: Pediatric dermatology
Published: July 22, 2014
Comparison of cranial magnetic resonance imaging findings and clinical features in patients with corpus callosum abnormalities.
Journal: Neuropediatrics
Published: July 27, 2013
Coexistence of myositis, transverse myelitis, and Guillain Barré syndrome following Mycoplasma pneumoniae infection in an adolescent.
Journal: Journal of pediatric neurosciences
Published: June 18, 2013
Last Updated: 09/26/2026