未登录 The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice Vural, Atay; Simsir, Gulsah; Tekgul, Seyma; Kocoglu, Cemile; Akcimen, Fulya; Kartal, Ece; Sen, Nesli E.; Lahut, Suna; Omur, Ozgur; Saner, Nazan; Gul, Tugce; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Cetinkaya, Caroline Pirkevi; Eken, Asli Gundogdu; Sahbaz, Irmak; Koc, Muge Kovancilar; Cakmak, Ozgur Oztop; Hanagasi, Hasmet; Bilgic, Basar; Eraksoy, Mefkure; Gunduz, Aysegul; Apaydin, Hulya; Kiziltan, Gunes; Ozekmekci, Sibel; Siva, Aksel; Altintas, Ayse; Gulec, Zeynep E. Kaya; Parman, Yesim; Oflazer, Piraye; Deymeer, Feza; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Tufekcioglu, Zeynep; Tekturk, Pinar; Corbali, M. Osman; Tireli, Hulya; Akdal, Gulden; Yis, Uluc; Hiz, Semra; Sengun, Ihsan; Bora, Elcin; Serdaroglu, Gul; Ozbek, Sevda Erer; Agan, Kadriye; Gunal, Dilek Ince; Us, Onder; Kurt, Semiha G.; Aksoy, Durdane; Tokcaer, Ayse Bora; Elmas, Muhsin; Gultekin, Murat; Kumandas, Sefer; Acer, Hamit; Ozcora, Gul D. Kaya; Yayla, Vildan; Soysal, Aysun; Genc, Gencer; Gulluoglu, Halil; Kotan, Dilcan; Ayas, Zeynep Ozozen; Sahin, Huseyin A.; Tan, Ersin; Topcu, Meral; Topcuoglu, Esen Saka; Akbostanci, Cenk; Koc, Filiz; Ertan, Sibel; Elibol, Bulent; Basak, A. Nazli 分享 收藏
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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database Tunca, Ceren; Seker, Tuncay; Akcimen, Fulya; Coskun, Cemre; Bayraktar, Elif; Palvadeau, Robin; Zor, Seyit; Kocoglu, Cemile; Kartal, Ece; Sen, Nesli Ece; Hamzeiy, Hamid; Erimis, Aslihan Ozoguz; Norman, Utku; Karakahya, Oguzhan; Olgun, Gulden; Akgun, Tahsin; Durmus, Hacer; Sahin, Erdi; Cakar, Arman; Gursoy, Esra Baar; Yildiz, Gulsen Babacan; Isak, Baris; Uluc, Kayihan; Hanagasi, Hasmet; Bilgic, Basar; Turgut, Nilda; Aysal, Fikret; Ertas, Mustafa; Boz, Cavit; Kotan, Dilcan; Idrisoglu, Halil; Soysal, Aysun; Adatepe, Nurten Uzun; Akalin, Mehmet Ali; Koc, Filiz; Tan, Ersin; Oflazer, Piraye; Deymeer, Feza; Tastan, Oznur; Cicek, A. Ercument; Kavak, Ersen; Parman, Yesim; Basak, A. Nazli 分享 收藏
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Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit Shen, Xin-Ming; Brengman, Joan M.; Shen, Shelley; Durmus, Hacer; Preethish-Kumar, Veeramani; Yuceyar, Nur; Vengalil, Seena; Nalini, Atchayaram; Deymeer, Feza; Sine, Steven M.; Engel, Andrew G. 分享 收藏
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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice Durmus, Hacer; Ayhan, Ozgecan; Cirak, Sebahattin; Deymeer, Feza; Parman, Yesim; Franke, Andre; Eiber, Nane; Chevessier, Frederic; Schloetzer-Schrehardt, Ursula; Clemen, Christoph S.; Hashemolhosseini, Said; Schroeder, Rolf; Hemmrich-Stanisak, Georg; Tolun, Aslihan; Serdaroglu-Oflazer, Piraye 分享 收藏
The distinct genetic pattern of ALS in Turkey and novel mutations Ozoguz, Aslihan; Uyan, Ozgun; Birdal, Gunes; Iskender, Ceren; Kartal, Ece; Lahut, Suna; Omur, Ozgur; Agim, Zeynep Sena; Eken, Asli Gundogdu; Sen, Nesli Ece; Kavak, Pinar; Saygi, Ceren; Sapp, Peter C.; Keagle, Pamela; Parman, Yesim; Tan, Ersin; Koc, Filiz; Deymeer, Feza; Oflazer, Piraye; Hanagasi, Hasmet; Gurvit, Hakan; Bilgic, Basar; Durmus, Hacer; Ertas, Mustafa; Kotan, Dilcan; Akalin, Mehmet Ali; Gulluoglu, Halil; Zarifoglu, Mehmet; Aysal, Fikret; Dosolu, Nilgun; Bilguvar, Kaya; Gunel, Murat; Keskin, Ozlem; Akgun, Tahsin; Ozcelik, Hilmi; Landers, John E.; Brown, Robert H.; Basak, A. Nazli 分享 收藏
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A comprehensive analysis of the epidemiology and clinical characteristics of anti-LRP4 in myasthenia gravis Zisimopoulou, P.; Evangelakou, P.; Tzartos, J.; Lazaridis, K.; Zouvelou, V.; Mantegazza, R.; Antozzi, C.; Andreetta, F.; Evoli, A.; Deymeer, F.; Saruhan-Direskeneli, G.; Durmus, H.; Brenner, T.; Vaknin, A.; Berrih-Aknin, S.; Cuvelier, M. Frenkian; Stojkovic, T.; DeBaets, M.; Losen, M.; Martinez-Martinez, P.; Kleopa, K. A.; Zamba-Papanicolaou, E.; Kyriakides, T.; Kostera-Pruszczyk, A.; Szczudlik, P.; Szyluk, B.; Lavrnic, D.; Basta, I.; Peric, S.; Tallaksen, C.; Maniaol, A.; Tzartos, S. J. 分享 收藏
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GFPT1-myasthenia Clinical, structural, and electrophysiologic heterogeneity Selcen, Duygu; Shen, Xin-Ming; Milone, Margherita; Brengman, Joan; Ohno, Kinji; Deymeer, Feza; Finkel, Richard; Rowin, Julie; Engel, Andrew G. 分享 收藏
Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients Durmus, H.; Laval, S. H.; Deymeer, F.; Parman, Y.; Kiyan, E.; Gokyigiti, M.; Ertekin, C.; Ercan, I.; Solakoglu, S.; Karcagi, V.; Straub, V.; Bushby, K.; Lochmueller, H.; Serdaroglu-Oflazer, P. 分享 收藏
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Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene Bissar-Tadmouri, N; Nelis, E; Züchner, S; Parman, Y; Deymeer, F; Serdaroglu, P; De Jonghe, P; Van Gerwen, V; Timmerman, V; Schröder, JM; Battaloglu, E 分享 收藏
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