未登录 SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nashabat, Marwan; Nabavizadeh, Nasrinsadat; Saracoglu, Hilal Piril; Saribas, Burak; Avci, Sahin; Borklu, Esra; Beillard, Emmanuel; Yilmaz, Elanur; Uygur, Seyide Ecesu; Kayhan, Cavit Kerem; Bosco, Luca; Eren, Zeynep Bengi; Steindl, Katharina; Richter, Manuela Friederike; Bademci, Guney; Rauch, Anita; Fattahi, Zohreh; Valentino, Maria Lucia; Connolly, Anne M.; Bahr, Angela; Viola, Laura; Bergmann, Anke Katharina; Rocha, Maria Eugenia; Peart, Leshon; Castro-Rojas, Derly Liseth; Bueltmann, Eva; Khan, Suliman; Giarrana, Miriam Liliana; Teleanu, Raluca Ioana; Gonzalez, Joanna Michelle; Pini, Antonella; Schadlich, Ines Sophie; Vill, Katharina; Brugger, Melanie; Zuchner, Stephan; Pinto, Andreia; Donkervoort, Sandra; Bivona, Stephanie Ann; Riza, Anca; Streata, Ioana; Glaeser, Dieter; Baquero-Montoya, Carolina; Garcia-Restrepo, Natalia; Kotzaeridou, Urania; Brunet, Theresa; Epure, Diana Anamaria; Bertoli-Avella, Aida; Kariminejad, Ariana; Tekin, Mustafa; von Hardenberg, Sandra; Boennemann, Carsten G.; Stettner, Georg M.; Zanni, Ginevra; Kayserili, Huelya; Oflazer, Zehra Piraye; Escande-Beillard, Nathalie 分享 收藏
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis Dohrn, Maike F.; Beijer, Danique; Lone, Museer A.; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A. Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J.; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C.; Synofzik, Matthis; Boennemann, Carsten G.; Basak, A. Nazli; Hornemann, Thorsten; Zuchner, Stephan 分享 收藏
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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
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Pinos, Tomas; Andreu, Antoni L.; Bruno, Claudio; Hadjigeorgiou, Georgios M.; Haller, Ronald G.; Laforet, Pascal; Lucia, Alejandro; Martin, Miguel A.; Martinuzzi, Andrea; Navarro, Carmen; Oflazer, Piraye; Pouget, Jean; Quinlivan, Ros; Sacconi, Sabrina; Scalco, Renata S.; Toscano, Antonio; Vissing, John; Vorgerd, Matthias; Wakelin, Andrew; Marti, Ramon 分享 收藏
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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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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The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angelica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barisic, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben Yaou, Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; Sarmiento, Isis de la Caridad Guerrero; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van den Bergen, Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosario; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Bjorn; Bloetzer, Clemens; Karaduman, Ayse; Topaloglu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von Rekowski, Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Beroud, Christophe; Lochmueller, Hanns 分享 收藏
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy Kley, Rudolf A.; Serdaroglu-Oflazer, Piraye; Leber, Yvonne; Odgerel, Zagaa; van der Ven, Peter F. M.; Olive, Montse; Ferrer, Isidro; Onipe, Adekunle; Mihaylov, Mariya; Bilbao, Juan M.; Lee, Hee S.; Hoehfeld, Joerg; Djinovic-Carugo, Kristina; Kong, Kester; Tegenthoff, Martin; Peters, Soeren A.; Stenzel, Werner; Vorgerd, Matthias; Goldfarb, Lev G.; Fuerst, Dieter O. 分享 收藏
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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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