Browsing by Author "Cirak, S"
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Web of Science Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018.01.01) Ghosh, SG; Becker, K; Huang, H; Salazar, TD; Chai, GL; Salpietro, V; Al-Gazali, L; Waisfisz, Q; Wang, H; Vaux, KK; Stanley, V; Manole, A; Akpulat, U; Weiss, MM; Efthymiou, S; Hanna, MG; Minetti, C; Striano, P; Pisciotta, L; De Grandis, E; Altmuller, J; Nurnberg, P; Thiele, H; Yis, U; Okur, TD; Polat, AI; Amiri, N; Doosti, M; Karimani, EG; Toosi, MB; Haddad, G; Karakaya, M; Wirth, B; van Hagen, JM; Wolf, NI; Maroofian, R; Houlden, H; Cirak, S; Gleeson, JGWeb of Science Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization(2017.01.01) Wang, HC; Salter, CG; Refai, O; Hardy, H; Barwick, KES; Akpulat, U; Kvarnung, M; Chioza, BA; Harlalka, G; Taylan, F; Sejersen, T; Wright, J; Zimmerman, HH; Karakaya, M; Stuve, B; Weis, J; Schara, U; Russell, MA; Abdul-Rahman, OA; Chilton, J; Blakely, RD; Baple, EL; Cirak, S; Crosby, AHWeb of Science Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey(2021.01.01) Daimaguler, HS; Akpulat, U; Ozdemir, O; Yis, U; Gungor, S; Talim, B; Diniz, G; Baydan, F; Thiele, H; Altmuller, J; Nurnberg, P; Cirak, SWeb of Science Web of Science Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD(2018.01.01) Akpulat, U; Wang, HC; Becker, K; Contreras, A; Partridge, TA; Novak, JS; Cirak, S