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Page 1
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, Nejad-Rashidi 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 MZ, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Maia ER, Mansoor S, Vivek J, Tawde S, Santhosh R Challa V, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, Ei-Awady 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, Jave… See abstract for full author list ➔ Cali E, et al. Among authors: gencpinar p. Genet Med. 2024 Sep 10:101251. doi: 10.1016/j.gim.2024.101251. Online ahead of print. Genet Med. 2024. PMID: 39275948 Free article.
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
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.
Hamamie-Chaar A, Renaud M, Gençpinar P, Bruel AL, Philippe C, Maraval J, Racine C, Hadouiri N, Lambert L, Schmitt E, Banneau G, Hocquel A, Thauvin-Robinet C, Faivre L, Thomas Q. Hamamie-Chaar A, et al. Among authors: gencpinar p. J Neurol. 2024 Sep;271(9):6343-6348. doi: 10.1007/s00415-024-12565-0. Epub 2024 Jul 13. J Neurol. 2024. PMID: 39003427 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
Proceedings of the 14th International Newborn Brain Conference: Long-term outcome studies, developmental care, palliative care, ethical dilemmas, and challenging clinical scenarios in neonatal neurology.
Abramsky R, Alkhadem Z, Alsup S, Anwar T, Arroyo M, Bonfanti C, Boomsma M, Boswinkel V, Cabacungan E, Chang T, Cimino C, Cohen S, Cuzino IA, de Vries L, Demšar J, DiPietro J, Dündar NO, Engur D, Fontana C, Fumagalli M, Gangi S, Garavatti E, Garcia R, Gencpinar P, Glennon C, Goldshtein M, Gont B, Herrera S, Iriciuc M, Kavčič A, Li RP, Lowe C, Marks K, Meijler G, Meloni S, Michaelovsky A, Mosca F, Nijholt I, Farkash Novik E, Obeid R, Ondusko DS, Ozalvo D, Pesenti N, Petcariu B, Phillips J, Porro M, Roth E, Šalamon AS, Schiavolin P, Seghete KM, Shany E, Shelef I, Simsir ME, Soykan A, Toma AI, Tsuchida T, Van Erkel F, Yilmaz C, Zahalka A, Zengi I. Abramsky R, et al. Among authors: gencpinar p. J Neonatal Perinatal Med. 2023;16(s1):S103-S118. doi: 10.3233/NPM-239006. J Neonatal Perinatal Med. 2023. PMID: 37599545 No abstract available.
75 results