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

F. D. Tiziano; E. Bertini; S. Messina; C. Angelozzi; M. Pane; A. D'Amico; P. Alfieri; S. Fiori; R. Battini; A. Berardinelli; P. Boffi; C. Bruno; C. Cini; C. Minetti; T. Mongini; L. Morandi; S. Orcesi; M. Pelliccioni; A. Pini; M. Villanova; G. Vita; M. Locatelli; E. Mercuri; C. Brahe

doi:10.1016/j.nmd.2007.02.006

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

F. D. Tiziano, E. Bertini, S. Messina, C. Angelozzi, M. Pane, A. D'Amico, P. Alfieri, S. Fiori, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, C. Minetti, T. Mongini, L. Morandi, S. Orcesi, M. Pelliccioni, A. Pini, M. VillanovaG. Vita, M. Locatelli, E. Mercuri, C. Brahe

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	400-403
Number of pages	4
Journal	Neuromuscular Disorders
Volume	17
Issue number	5
DOIs	https://doi.org/10.1016/j.nmd.2007.02.006
Publication status	Published - May 2007

Keywords

Hammersmith functional motor scale
SMA
SMN1
SMN2
Spinal muscular atrophy

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Developmental Neuroscience
Neurology

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10.1016/j.nmd.2007.02.006

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Tiziano, F. D., Bertini, E., 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., ... Brahe, C. (2007). The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. Neuromuscular Disorders, 17(5), 400-403. https://doi.org/10.1016/j.nmd.2007.02.006

Tiziano, FD, Bertini, E, 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 & Brahe, C 2007, 'The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study', Neuromuscular Disorders, vol. 17, no. 5, pp. 400-403. https://doi.org/10.1016/j.nmd.2007.02.006

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title = "The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study",

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.",

keywords = "Hammersmith functional motor scale, SMA, SMN1, SMN2, Spinal muscular atrophy",

author = "Tiziano, {F. D.} and E. Bertini and S. Messina and C. Angelozzi and M. Pane and A. D'Amico and P. Alfieri and S. Fiori and R. Battini and A. Berardinelli and P. Boffi and C. Bruno and C. Cini and C. Minetti and T. Mongini and L. Morandi and S. Orcesi and M. Pelliccioni and A. Pini and M. Villanova and G. Vita and M. Locatelli and E. Mercuri and C. Brahe",

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AU - Bertini, E.

AU - Messina, S.

AU - Angelozzi, C.

AU - Pane, M.

AU - D'Amico, A.

AU - Alfieri, P.

AU - Fiori, S.

AU - Battini, R.

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, E.

AU - Brahe, C.

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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.

KW - Hammersmith functional motor scale

KW - SMA

KW - SMN1

KW - SMN2

KW - Spinal muscular atrophy

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

Abstract

Keywords

ASJC Scopus subject areas

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