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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
Gualandi, F., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Scotton, C., Di Raimo, F., Mauro, A., Tugnoli, V, Timmerman, V, Wirth, B., De Grandis, D. and Ferlini, A. (2016). CLINICAL NEXT GENERATION SEQUENCING GENE PANEL IDENTIFIED A NOVEL ATP7A MUTATION IN TWO BROTHERS WITH DISTAL HEREDITARY MOTOR NEUROPATHY AND AUTONOMIC DYSFUNCTION. J. Peripher. Nerv. Syst., 21 (3). S. 262 - 263. HOBOKEN: WILEY-BLACKWELL. ISSN 1529-8027
Neri, M., Selvatici, R., Scotton, C., Storbeck, M., Vezyroglou, K., Heller, R., Tugnoli, V., Bigoni, S., Timmerman, V., Wirth, B., De, D., Gualandi, F. and Ferlini, A. (2017). Clinical gene panel in UNIFE patients orphans of genetic diagnosis. Neuromusc. Disord., 27. S. S195 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Scotton, C., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Neri, M., Di Raimo, F., Mauro, A., Tugnoli, V., Timmerman, V., Wirth, B., De Grandis, D., Gualandi, F. and Ferlini, A. (2015). Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction. Neuromusc. Disord., 25. S. S224 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364