TY - JOUR
T1 - The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study
AU - Tiziano, Francesco Danilo
AU - Bertini, E.
AU - Bertini, Enrico Silvio
AU - Messina, S.
AU - Angelozzi, C.
AU - Pane, Marika
AU - D'Amico, A.
AU - Alfieri, P.
AU - Fiori, Simona
AU - Battini, R.
AU - Battini, Roberta
AU - Berardinelli, A.
AU - Boffi, P.
AU - Bruno, C.
AU - Cini, C.
AU - Minetti, C.
AU - Mongini, T.
AU - Morandi, L.
AU - Orcesi, S.
AU - Pelliccioni, M.
AU - Pini, A.
AU - Villanova, M.
AU - Vita, G.
AU - Locatelli, M.
AU - Mercuri, Eugenio Maria
AU - Brahe, C.
PY - 2007
Y1 - 2007
N2 - 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.
AB - 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.
KW - Hammersmith functional motor scale
KW - SMA
KW - Spinal muscular atrophy
KW - SMN2
KW - SMN1
KW - Hammersmith functional motor scale
KW - SMA
KW - Spinal muscular atrophy
KW - SMN2
KW - SMN1
UR - http://hdl.handle.net/10807/260315
U2 - 10.1016/j.nmd.2007.02.006
DO - 10.1016/j.nmd.2007.02.006
M3 - Article
SN - 0960-8966
VL - 17
SP - 400
EP - 403
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -