Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function. © 2007.

Tiziano, F. D., Bertini, E. S., Messina, S., Angelozzi, C., Pane, M., D'Amico, A., Alfieri, P., Fiori, S., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Minetti, C., Mongini, T., Morandi, L., Orcesi, S., Pelliccioni, M., Pini, A., Villanova, M., Vita, G., Locatelli, M., Mercuri, E. M., Brahe, C., The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study, <<NEUROMUSCULAR DISORDERS>>, 2007; 17 (5): 400-403. [doi:10.1016/j.nmd.2007.02.006] [https://hdl.handle.net/10807/260315]

The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

Tiziano, Francesco Danilo;Bertini, Enrico Silvio;Pane, Marika;Fiori, Simona;Battini, Roberta;Mercuri, Eugenio Maria;
2007

Abstract

Previous studies showed that SMN2 copy number correlates inversely with the disease severity. Our aim was to evaluate SMN2 copy numbers and the Hammersmith functional motor scale in 87 patients with SMA II in order to establish whether, within SMAII, the number of copies correlates with the severity of functional impairment. Our results showed a relative variability of functional scores, but a significant correlation between the number of SMN2 genes and the level of function. © 2007.
2007
Inglese
Tiziano, F. D., Bertini, E. S., Messina, S., Angelozzi, C., Pane, M., D'Amico, A., Alfieri, P., Fiori, S., Battini, R., Berardinelli, A., Boffi, P., Bruno, C., Cini, C., Minetti, C., Mongini, T., Morandi, L., Orcesi, S., Pelliccioni, M., Pini, A., Villanova, M., Vita, G., Locatelli, M., Mercuri, E. M., Brahe, C., The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study, <<NEUROMUSCULAR DISORDERS>>, 2007; 17 (5): 400-403. [doi:10.1016/j.nmd.2007.02.006] [https://hdl.handle.net/10807/260315]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/260315
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