Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

P.S. Denora, D. Schlesinger, C. Casali, F. Kok, A. Tessa, A. Boukhris, H. Azzedine, M.T. Dotti, C. Bruno, J. Truchetto, R. Biancheri, E. Fedirko, M. Di Rocco, C. Bueno, A. Malandrini, R. Battini, E. Sickl, M.F. de Leva, O. Boespflug-Tanguy, G. SilvestriA. Simonati, E. Said, A. Ferbert, C. Criscuolo, K. Heinimann, A. Modoni, P. Weber, S. Palmeri, M. Plasilova, F. Pauri, D. Cassandrini, C. Battisti, A. Pini, M. Tosetti, E. Hauser, M. Masciullo, R. Di Fabio, F. Piccolo, E. Denis, G. Cioni, R. Massa, E. la Giustina, O. Calabrese, M.A.B. Melone, G. De Michele, A. Federico, E. Bertini, A. Durr, K. Brockmann, M.S. van der Knaap, M. Zatz, A. Filla, A. Brice, G. Stevanin, F.M. Santorelli

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)E500-E519
JournalHuman Mutation
Volume30
Issue number3
DOIs
Publication statusPublished - 2009

Cite this

Denora, P. S., Schlesinger, D., Casali, C., Kok, F., Tessa, A., Boukhris, A., ... Santorelli, F. M. (2009). Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human Mutation, 30(3), E500-E519. https://doi.org/10.1002/humu.20945