Universität zu Köln

2020

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

2019

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

2017

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

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

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

2016

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. 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

2015

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