Universität zu Köln

Journal Article

Chen, Zhongbo ORCID: 0000-0001-6668-7202, Maroofian, Reza, Basak, A. Nazli, Shingavi, Leena, Karakaya, Mert, Efthymiou, Stephanie, Gustavsson, Emil K., Meier, Leyla, Polavarapu, Kiran, Vengalil, Seena, Preethish-Kumar, Veeramani, Nandeesh, Bevinahalli N., Gunes, Nalan Gokce, Akan, Onur, Candan, Fatma, Schrank, Bertold, Zuchner, Stephan, Murphy, David, Kapoor, Mahima, Ryten, Mina, Wirth, Brunhilde, Reilly, Mary M., Nalini, Atchayaram, Houlden, Henry and Sarraf, Payam . Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies. Eur. J. Neurol.. HOBOKEN: WILEY. ISSN 1468-1331

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Keller, Natalie, Paketci, Cem, Altmueller, Janine, Fuhrmann, Nico, Wunderlich, Gilbert, Schrank, Bertold, Unver, Olcay, Yilmaz, Sanem, Boostani, Reza, Karimiani, Ehsan Ghayoor, Motameny, Susanne, Thiele, Holger, Nuernberg, Peter, Maroofian, Reza, Yis, Uluc, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Karakaya, Mert (2021). Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease. Hum. Mutat., 42 (4). S. 460 - 473. HOBOKEN: WILEY. ISSN 1098-1004

Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique ORCID: 0000-0001-6593-7644, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hoelker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan and Wirth, Brunhilde (2020). De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am. J. Hum. Genet., 107 (4). S. 763 - 778. CAMBRIDGE: CELL PRESS. ISSN 1537-6605