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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: ipek r. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index.
Dilber B, Serdaroğlu E, Kanmaz S, Kılıç B, İpek R, Menderes DK, Yıldız N, Topçu Y, Arhan EP, Serdaroğlu A, Okuyaz Ç, Aydın K, Tekgül H, Cansu A. Dilber B, et al. Among authors: ipek r. Pediatr Neurol. 2024 Mar;152:79-86. doi: 10.1016/j.pediatrneurol.2023.12.014. Epub 2024 Jan 3. Pediatr Neurol. 2024. PMID: 38237317
A Rare Case of Rotavirus-related Acute Benign Myositis.
Kilic FE, İpek R, Almiş H. Kilic FE, et al. Among authors: ipek r. Pediatr Infect Dis J. 2023 Oct 1;42(10):e396-e397. doi: 10.1097/INF.0000000000004025. Epub 2023 Jun 30. Pediatr Infect Dis J. 2023. PMID: 37406210 No abstract available.
SYSTEMI - systemic organ communication in STEMI: design and rationale of a cohort study of patients with ST-segment elevation myocardial infarction.
Bönner F, Jung C, Polzin A, Erkens R, Dannenberg L, Ipek R, Kaldirim M, Cramer M, Wischmann P, Zaharia OP, Meyer C, Flögel U, Levkau B, Gödecke A, Fischer J, Klöcker N, Krüger M, Roden M, Kelm M. Bönner F, et al. Among authors: ipek r. BMC Cardiovasc Disord. 2023 May 3;23(1):232. doi: 10.1186/s12872-023-03210-1. BMC Cardiovasc Disord. 2023. PMID: 37138228 Free PMC article.
Evaluation of developmental profiles of children with hydrocephalus.
Gönüllü Polat B, Makharoblidze K, İpek R, Çobanoğullari Direk M, Derici Yıldırım D, Okuyaz Ç. Gönüllü Polat B, et al. Among authors: ipek r. Neurocirugia (Astur : Engl Ed). 2022 Nov-Dec;33(6):269-274. doi: 10.1016/j.neucie.2021.06.005. Neurocirugia (Astur : Engl Ed). 2022. PMID: 36333085
17 results