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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