Turkyilmaz A - Search Results

1

Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS).

Sager G, Takis G, Vatansever Pinar Z, Duzkalir H, Turkyilmaz A, Çağ Y, Akin Y. Sager G, et al. Among authors: turkyilmaz a. Neurophysiol Clin. 2023 Feb;53(1):102861. doi: 10.1016/j.neucli.2023.102861. Epub 2023 Apr 12. Neurophysiol Clin. 2023. PMID: 37058916

2

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy.

Turkdogan D, Turkyilmaz A, Gormez Z, Sager G, Ekinci G. Turkdogan D, et al. Among authors: turkyilmaz a. Seizure. 2019 Mar;66:12-14. doi: 10.1016/j.seizure.2019.01.010. Epub 2019 Jan 16. Seizure. 2019. PMID: 30771731 Free article. No abstract available.

3

A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature.

Turkyilmaz A, Sager G. Turkyilmaz A, et al. Mol Syndromol. 2020 Dec;11(5-6):315-319. doi: 10.1159/000510994. Epub 2020 Oct 15. Mol Syndromol. 2020. PMID: 33510603 Free PMC article.

4

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.

Sager G, Turkyilmaz A, Ates EA, Kutlubay B. Sager G, et al. Among authors: turkyilmaz a. Acta Neurol Belg. 2022 Apr;122(2):391-399. doi: 10.1007/s13760-021-01649-7. Epub 2021 Apr 3. Acta Neurol Belg. 2022. PMID: 33813722

5

Correction to: HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.

Sager G, Turkyilmaz A, Ates EA, Kutlubay B. Sager G, et al. Among authors: turkyilmaz a. Acta Neurol Belg. 2023 Oct;123(5):2047. doi: 10.1007/s13760-021-01685-3. Acta Neurol Belg. 2023. PMID: 33961281 No abstract available.

6

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.

Turkdogan D, Turkyilmaz A, Sager G, Ozturk G, Unver O, Say M. Turkdogan D, et al. Among authors: turkyilmaz a. Int J Neurosci. 2023 Jul;133(7):683-700. doi: 10.1080/00207454.2021.1967349. Epub 2021 Aug 23. Int J Neurosci. 2023. PMID: 34380004

7

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Türkyilmaz A, Sager SG, Topcu B, Kaplan AT, Günbey HP, Akin Y. Türkyilmaz A, et al. Clin Dysmorphol. 2022 Jan 1;31(1):45-49. doi: 10.1097/MCD.0000000000000389. Clin Dysmorphol. 2022. PMID: 34538861 No abstract available.

8

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Karakaya T, Turkyilmaz A, Sager G, Inan R, Yarali O, Cebi AH, Akin Y. Karakaya T, et al. Among authors: turkyilmaz a. Neurogenetics. 2022 Jul;23(3):213-221. doi: 10.1007/s10048-022-00693-6. Epub 2022 May 13. Neurogenetics. 2022. PMID: 35562614

9

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.

Türkyılmaz A, Sağer SG, Günbey HP, Akın Y. Türkyılmaz A, et al. Clin Genet. 2022 Sep;102(3):218-222. doi: 10.1111/cge.14166. Epub 2022 May 28. Clin Genet. 2022. PMID: 35599435

10

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.

Sager SG, Turkyilmaz A, Gunbey HP, Karatoprak EY, Aslan ES, Akın Y. Sager SG, et al. Among authors: turkyilmaz a. Brain Dev. 2023 Feb;45(2):140-145. doi: 10.1016/j.braindev.2022.09.004. Epub 2022 Sep 30. Brain Dev. 2023. PMID: 36192301

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