Universität zu Köln

2020

Ferreira, N. Mendoza, Karakaya, M., Cengiz, N., Beijer, D., Fuhrmann, N., Hoelker, I., Schrank, B., Brigatti, K., Gonzaga-Jauregui, C., Puffenberger, E., Wunderlich, G., De Jonghe, P., Deconinck, T., Strauss, K., Baets, J. and Wirth, B. (2020). Mutations in the Golgi protein GBF1 as a novel cause of distal hereditary motor neuropathy. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 99 - 100. LONDON: SPRINGERNATURE. ISSN 1476-5438

Karakaya, M., Keller, N., Altmueller, J., Motameny, S., Thiele, H., Wunderlich, G., Kirschner, J., Schrank, B., Maroofian, R., Paketci, C., Yis, U., Nuernberg, P. and Wirth, B. (2020). Variants causing mitochondrial dysfunction are not rare in non-5q SMA: Re-evaluation of thirty families by exome sequencing. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 442 - 443. LONDON: SPRINGERNATURE. ISSN 1476-5438

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

Torbati, P. N., Karimiani, E. G., Ferreira, N. M., Maroofian, R., Chelban, V., Khalil, Y., Mills, P. B., Boostani, R., Thiele, H., Houlden, H., Wirth, B. and Karakaya, M. (2020). A treatable hereditary polyneuropathy due to impaired Vitamin B6 metabolism. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 439 - 441. LONDON: SPRINGERNATURE. ISSN 1476-5438

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

2015

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