 | Up a level |
Journal Article
Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M. and Wirth, B. (2020). A recurrent de novo CAPRIN1 mutation causes a novel progressive early onset neurodegenerative disorder. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 404 - 405. LONDON: SPRINGERNATURE. ISSN 1476-5438
Schneider, S., Riessland, M., Kaczmarek, A., Swoboda, K. J., Loehr, H., Bradler, C., Grysko, V., Dimitriadi, M., Hosseinibarkooie, S., Torres-Benito, L., Peters, M., Upadhyay, A., Biglari, N., Kroeber, S., Hoelker, I., Garbes, L., Gilissen, C., Hoischen, A., Nuernberg, G., Nuernberg, P., Walter, M., Rigo, F., Bennett, C. F., Kye, M. J., Hart, A. C., Hammerschmidt, M., Kloppenburg, P. and Wirth, B. (2018). Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy. Eur. J. Hum. Genet., 26. S. 55 - 57. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438