 | Up a level |
Journal Article
Ardicli, D., Gocmen, R., Cirak, S., Karakaya, M., Haliloglu, G. and Topaloglu, H. (2016). Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review. Neuromusc. Disord., 26. S. S163 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Ardicli, D., Gocmen, R., Cirak, S., Talim, B., Haliloglu, G. and Topaloglu, H. (2016). Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation. Neuromusc. Disord., 26. S. S165 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Bayram, A., Stumpfe, K., Wang, H., Pergande, M., Per, H. and Cirak, S. (2017). Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2. Neuromusc. Disord., 27. S. S147 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Bayram, A. Kacar, Per, H., Zorludemir, S., Wang, H., Gumus, H. and Cirak, S. (2016). A new homozygous frameshifting mutation in SPEG causes mild centronuclear myopathy. Neuromusc. Disord., 26. S. S117 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Bello, L., Morgenroth, L., Gordish-Dressman, H., Hoffman, E., McDonald, C. and Cirak, S. (2016). DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study. Neuromusc. Disord., 26. S. S119 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Chamova, T., Gospodinova, M., Guergueltcheva, V., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Bogdanova, D., Kmetska, K., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H., Bahlo, M., Kalaydjieva, L. and Tournev, I. (2016). GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Eur. J. Neurol., 23. S. 435 - 436. HOBOKEN: WILEY. ISSN 1468-1331
Heredia, R., Hathout, Y., Moore, S., Katherine, M. and Cirak, S. (2015). Discovery of biomarkers for LGMD2I. Neuromusc. Disord., 25. S. S234 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Karakaya, M., Kunde, V., Heller, R., Nuernberg, P. and Cirak, S. (2015). WES revealed a de-novo missense mutation in the NALCN gene in a Freeman-Sheldon-(DA2A) like syndrome with CNS involvement. Neuromusc. Disord., 25. S. S277 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Paketci, C., Karakaya, M., Edem, P., Bayram, E., Keller, N., Daimagueler, H-S, Cirak, S., Jordanova, A., Hiz, S., Wirth, B. and Yis, U. (2020). Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies. Rev. Neurol., 176 (10). S. 846 - 856. MOULINEAUX CEDEX 9: MASSON EDITEUR. ISSN 2213-0004
Wang, H., Salter, S., Refai, O., Hardy, H., Sejersen, T., Wright, J., Zimmerman, H., Weis, J., Schara, U., Russell, M., Abdul-Rahman, O., Chilton, J., Blakely, R., Baple, E., Crosby, A. and Cirak, S. (2017). Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo. Neuromusc. Disord., 27. S. S220 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Wang, H., Sprute, R., Daimagueler, H. and Cirak, S. (2017). Translational biochemistry for dystroglycanopathies. Neuromusc. Disord., 27. S. S109 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Wunderlich, G., Abicht, A., Brunn, A., Daimagueler, H. -S., Schroeter, M., Fink, G. R., Lehmann, H. C. and Cirak, S. (2019). Congenitalmyasthenic syndromes in adulthood. Challenging, rare but treatable. Nervenarzt, 90 (2). S. 148 - 160. NEW YORK: SPRINGER. ISSN 1433-0407
Yis, U., Becker, K., Kurul, S., Uyanik, G., Bayram, E., Haliloglu, G., Polat, I., Ayanoglu, M., Okur, D., Tosun, A., Serdaroglu, G., Yilmaz, S., Topaloglu, H., Anlar, B., Cirak, S. and Engel, A. (2017). Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insights. Neuromusc. Disord., 27. S. S221 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364