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87 results

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Page 1
Phenotypic variability in cases with CACNA1A mutation.
Bozkaya-Yilmaz S, Olgac-Dundar N, Aliyeva N, Ersen A, Gencpinar P, Gungor M, Hiz AS, Yis U, Sarikaya-Uzan G, Sarigecili E, Kirik S, Erol I, Besen S, Kayilioglu H, Haspolat S, Kipoglu O, Ekici A, Turay S, Tosun A, Ayanoglu M, Danis A, Hancı F, Kutbay YB, Ozyilmaz B, Kara B. Bozkaya-Yilmaz S, et al. Among authors: gencpinar p. Eur J Pediatr. 2025 Mar 20;184(4):261. doi: 10.1007/s00431-025-06062-3. Eur J Pediatr. 2025. PMID: 40111503 Free PMC article.
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Jav… See abstract for full author list ➔ Cali E, et al. Among authors: gencpinar p. Genet Med. 2025 Apr;27(4):101251. doi: 10.1016/j.gim.2024.101251. Epub 2024 Sep 17. Genet Med. 2025. PMID: 39275948 Free PMC article.
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Direk MÇ, Besen Ş, Öncel İ, Günbey C, Özdoğan O, Orgun LT, Sahin S, Cansu A, Yıldız N, Kanmaz S, Yılmaz S, Tekgül H, Türkdoğan D, Ünver O, Thomas GÖ, Başıbüyük S, Yılmaz D, Kurt AN, Gültutan P, Özsoy Ö, Yiş U, Kurul SH, Güngör S, Özgör B, Karadağ M, Dündar NO, Gençpınar P, Bildik O, Orak SA, Kabur ÇÇ, Kara B, Karaca Ö, Canpolat M, Gümüş H, Per H, Yılmaz Ü, Karaoğlu P, Ersoy Ö, Tosun A, Öztürk SB, Yüksel D, Atasoy E, Gücüyener K, Yıldırım M, Bektaş Ö, Çavuşoğlu D, Yarar Ç, Güngör O, Mert GG, Sarıgeçili E, Edizer S, Çetin İD, Aydın S, Diler B, Özdemir AA, Erol İ, Okuyaz Ç, Anlar B. Direk MÇ, et al. Among authors: gencpinar p. Mult Scler Relat Disord. 2024 Jan;81:105149. doi: 10.1016/j.msard.2023.105149. Epub 2023 Nov 26. Mult Scler Relat Disord. 2024. PMID: 38096730
Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome.
Kanmaz S, Yılmaz S, Dündar NO, Aksoy A, Canpolat M, Per H, Erol İ, Gümüş H, Özkale Y, Öztürk S, Toprak DE, Öncel İ, Özkale M, Ozmansur EN, Serin HM, Ersöz G, Besen Ş, Mert GG, Güleç A, Şahin S, Ölçülü CB, Selek A, Pekuz S, Başarır G, Günay Ç, Biçer D, Kahraman ZF, Yüksel D, Karadağ M, Şimşek E, Ünalp A, Yıldız N, Direk MÇ, Yiş U, Tan H, Havalı C, Değerliyurt A, Güngör M, Hergüner Ö, Oncel EP, Ünver O, Kumandaş S, Celik HA, Özgör B, Cansu A, Atasever AK, Tosun A, Güngör O, Okuyaz Ç, Edizer S, Hız S, Sarıgeçili E, Kayılıoğlu H, Yazgan CD, Tuncer GÖ, Gençpınar P, Yılmaz Ü, Özgür S, Tekgül H, Anlar B. Kanmaz S, et al. Among authors: gencpinar p. J Child Neurol. 2025 Nov;40(10):838-851. doi: 10.1177/08830738251334219. Epub 2025 May 8. J Child Neurol. 2025. PMID: 40340642
Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.
Yıldız N, Serdaroğlu E, Kart PÖ, Besen S, Kanmaz S, Toprak DE, Kilic B, Ersoy O, Gencpinar P, Dundar NO, Okuyaz C, Serdaroglu A, Carman KB, Yarar C, Ekici B, Tatlı B, Erol İ, Aydın K, Tekgül H, Cansu A. Yıldız N, et al. Among authors: gencpinar p. Epilepsy Res. 2024 Sep;205:107399. doi: 10.1016/j.eplepsyres.2024.107399. Epub 2024 Jul 6. Epilepsy Res. 2024. PMID: 39003968
87 results