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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Çavdaroğlu, Sude; Altun, İlayda; Atasay, Elif Bilge; Yunisova, Gulshan; Oflazer, Piraye; Sezgin, Gülbüz
Journal of Rare Diseases. 2(1)
Academic Journal
Cortese, Andrea; Beecroft, Sarah J.; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R.; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K.; Dofash, Lein; Johari, Mridul; Grosz, Bianca R.; Ellis, Melina; Fearnley, Liam G.; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P.; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B.; Storey, Elsdon; Gardner, Mac; Amor, David J.; Nicholson, Garth; Vucic, Steve; Henderson, Robert D.; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R.; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A.; Laing, Nigel G.; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G.; Deveson, Ira W.; Lockhart, Paul J.; Lamont, Phillipa J.; Fahey, Michael C.; Bugiardini, Enrico; Ravenscroft, Gianina; Oflazer, Piraye; Basak, Nazli A.; Kayserili, Hulya; Yesil, Gozde; Malfatti, Edoardo; Lilliker, James B.; Wicklund, Matthew; Pitceathly, Robert D. S.; Brady, Stefen; Brais, Bernard; Pellerin, David; Zuchner, Stephan; Danzi, Matt C.; Grandis, Marina; Comi, Giacomo P.; Corti, Stefania P.; Abati, Elena; Toscano, Antonio; Manini, Arianna; Ghia, Arianna; Tassorelli, Cristina; Quartesan, Ilaria; Simone, Roberto; Rossor, Alexander M.; Reilly, Mary M.; Carroll, Liam; Straub, Volker; Udd, Bjarne; Chen, Zhiyong; Bonne, Gisele; OPDM Study Grp
Academic Journal
Giardina, Emiliano; Camano, Pilar; Burton-Jones, Sarah; Ravenscroft, Gina; Henning, Franclo; Magdinier, Frederique; van der Stoep, Nienke; van der Vliet, Patrick J.; Bernard, Rafaelle; Tomaselli, Pedro J.; Davis, Mark R.; Nishino, Ichizo; Oflazer, Piraye; Race, Valerie; Vishnu, Venugopalan Y.; Williams, Victoria; Sobreira, Claudia F. R.; van der Maarel, Silvere M.; Moore, Steve A.; Voermans, Nicol C.; Lemmers, Richard J. L. F.
Academic Journal
Yunisova, Gulshan; Ceylaner, Serdar; Oflazer, Piraye; Deymeer, Feza; Parman, Yesim Gülşen; Durmus, Hacer
In Neuromuscular Disorders September 2022 32(9):718-727
Academic Journal
Iliaz, Sinem; Yunisova, Gulshan; Cakmak, Ozgur Oztop; Celebi, Ozlem; Bulus, Eser; Duman, Arda; Bayraktaroglu, Mesut; Oflazer, Piraye
In Respiratory Medicine August-September 2022 200
Academic Journal
Cakar, Arman; Atmaca, Murat Mert; Kotan, Dilcan; Durmus, Hacer; Deymeer, Feza; Oflazer, Piraye; Parman, Yesim
Archives of Neuropsychiatry. March 2022, Vol. 59 Issue 1, p77, 3 p.
Academic Journal
Tomàs Pinós; Antoni L. Andreu; Claudio Bruno; Georgios M. Hadjigeorgiou; Ronald G. Haller; Pascal Laforêt; Alejandro Lucía; Miguel A. Martín; Andrea Martinuzzi; Carmen Navarro; Piraye Oflazer; Jean Pouget; Ros Quinlivan; Sabrina Sacconi; Renata S. Scalco; Antonio Toscano; John Vissing; Matthias Vorgerd; Andrew Wakelin; Ramon Martí; EUROMAC Consortium
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Academic Journal
Eren, İlker; Birsel, Olgar; Öztop Çakmak, Özgür; Aslanger, Ayça; Gürsoy Özdemir, Yasemin; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Demirhan, Mehmet
In Orthopaedics & Traumatology: Surgery & Research June 2020 106(4):701-707
Academic Journal
Börklü-Yücel, Esra; Demiriz, Çiğdem; Avcı, Şahin; Vanlı-Yavuz, Ebru Nur; Eraslan, Serpil; Oflazer, Piraye; Kayserili, Hülya
Neurological Sciences. 41(8):2157-2164
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