Köse E - Search Results

1

Status dystonicus associated with CLN8 disease.

Yıldırım M, Köse E, Keçeli AM, Balasar Ö, Şimşek N. Yıldırım M, et al. Among authors: kose e. Brain Dev. 2021 Apr;43(4):571-575. doi: 10.1016/j.braindev.2020.12.005. Epub 2020 Dec 24. Brain Dev. 2021. PMID: 33358637

2

Mild congenital myopathy due to a novel variation in SPEG gene.

Yildirim M, Balasar O, Kose E, Dogan MT. Yildirim M, et al. Among authors: kose e. Intractable Rare Dis Res. 2021 Aug;10(3):220-222. doi: 10.5582/irdr.2021.01034. Intractable Rare Dis Res. 2021. PMID: 34466346 Free PMC article.

3

Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.

Altıntaş M, Yıldırım M, Uçar Çİ, Köse E, Bektaş Ö, Teber S. Altıntaş M, et al. Among authors: kose e. Clin Neurol Neurosurg. 2023 Jul;230:107772. doi: 10.1016/j.clineuro.2023.107772. Epub 2023 May 8. Clin Neurol Neurosurg. 2023. PMID: 37167844

4

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Yüksel MF, Doğulu N, Yıldırım M, Köse E, Bektaş Ö, Eminoğlu FT, Teber S. Yüksel MF, et al. Among authors: kose e. Brain Dev. 2024 Jun;46(6):213-218. doi: 10.1016/j.braindev.2024.03.003. Epub 2024 Mar 16. Brain Dev. 2024. PMID: 38493042

5

Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis?

Koç Yekedüz M, Köse E, İnci A, Yüksel MF, Doğulu N, Şen Akova B, Yeniay Süt N, Öncül Ü, Yildirim M, Fitoz S, Teber S, Tümer L, Eminoğlu FT. Koç Yekedüz M, et al. Among authors: kose e. Pediatr Neurol. 2024 Jun;155:171-176. doi: 10.1016/j.pediatrneurol.2024.03.032. Epub 2024 Apr 5. Pediatr Neurol. 2024. PMID: 38669799

6

A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.

Çiçek S, Yıldırım M, Tabanlı FP, Köse E, Bektaş Ö, Teber S. Çiçek S, et al. Among authors: kose e. Cerebellum. 2024 Dec 10;24(1):7. doi: 10.1007/s12311-024-01773-z. Cerebellum. 2024. PMID: 39656415 Review.

7

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.

Köse E, Köse M, Edizer S, Akışın Z, Yılmaz ZB, Şahin A, Genel F. Köse E, et al. Among authors: kose m. Turk J Pediatr. 2020;62(4):652-656. doi: 10.24953/turkjped.2020.04.016. Turk J Pediatr. 2020. PMID: 32779419 Free article.

8

Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.

Sürücü Kara İ, Köse E, Doğulu N, Yüksel MF, Ceylaner S, Kendirli T, Eminoğlu FT. Sürücü Kara İ, et al. Among authors: kose e. Clin Neurol Neurosurg. 2022 Sep;220:107375. doi: 10.1016/j.clineuro.2022.107375. Epub 2022 Jul 20. Clin Neurol Neurosurg. 2022. PMID: 35917699

9

Severe acute disseminated encephalomyelitis with clinical findings of transverse myelitis after herpes simplex virus infection.

Sarioglu B, Kose SS, Saritas S, Kose E, Kanik A, Helvaci M. Sarioglu B, et al. Among authors: kose e, kose ss. J Child Neurol. 2014 Nov;29(11):1519-23. doi: 10.1177/0883073813513334. Epub 2014 Feb 13. J Child Neurol. 2014. PMID: 24525997

10

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

Kose E, Sirin Kose S, Alparslan C, Kasap Demir B, Berdeli A, Mutlubas Ozsan F, Yavascan O, Aksu N. Kose E, et al. Ren Fail. 2014 Jun;36(5):808-10. doi: 10.3109/0886022X.2014.890055. Epub 2014 Feb 24. Ren Fail. 2014. PMID: 24564331 Free article.

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