-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
2
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002;4:20-26.
-
(2002)
Genet Med
, vol.4
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
-
3
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
Brichta L, Hofmann Y, Hahnen E, et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003;12:2481-2489.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
-
4
-
-
0242290062
-
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
-
Sumner CJ, Huynh TN, Markowitz JA, et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 2003;54:647-654.
-
(2003)
Ann Neurol
, vol.54
, pp. 647-654
-
-
Sumner, C.J.1
Huynh, T.N.2
Markowitz, J.A.3
-
5
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
Andreassi C, Angelozzi C, Tiziano FD, et al. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 2004;12:59-65.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 59-65
-
-
Andreassi, C.1
Angelozzi, C.2
Tiziano, F.D.3
-
6
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
Brahe C, Vitali T, Tiziano FD, et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005;13:256-259.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 256-259
-
-
Brahe, C.1
Vitali, T.2
Tiziano, F.D.3
-
7
-
-
9144269242
-
Pilot trial of phenylbutyrate in spinal muscular atrophy
-
Mercuri E, Bertini E, Messina S, et al. Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul Disord 2004;14:130-135.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 130-135
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
-
8
-
-
0027057672
-
International SMA consortium meeting (26-28 June 92, Bonn, Germany)
-
Munsat TL, Davies KS. International SMA consortium meeting (26-28 June 92, Bonn, Germany). Neuromuscul Disord 1992;2:423-428.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 423-428
-
-
Munsat, T.L.1
Davies, K.S.2
-
9
-
-
0033559320
-
Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease
-
Atweh GF, Sutton M, Nassif I, et al. Sustained induction of fetal hemoglobin by pulse butyrate therapy in sickle cell disease. Blood 1999;93:1790-1797.
-
(1999)
Blood
, vol.93
, pp. 1790-1797
-
-
Atweh, G.F.1
Sutton, M.2
Nassif, I.3
-
10
-
-
0043092414
-
The Hammersmith functional motor scale for children with spinal muscular atrophy: A scale to test ability and monitor progress in children with limited ambulation
-
Main M, Kairon H, Mercuri E, Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 2003;7:155-159.
-
(2003)
Eur J Paediatr Neurol
, vol.7
, pp. 155-159
-
-
Main, M.1
Kairon, H.2
Mercuri, E.3
Muntoni, F.4
-
11
-
-
31944440025
-
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study
-
Mercuri E, Messina S, Battini R, et al. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord 2006;16:93-98.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 93-98
-
-
Mercuri, E.1
Messina, S.2
Battini, R.3
-
12
-
-
0036307964
-
Reliability of hand-held dynamometry in spinal muscular atrophy
-
Merlini L, Mazzone ES, Solari A, Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve 2002;26:64-70.
-
(2002)
Muscle Nerve
, vol.26
, pp. 64-70
-
-
Merlini, L.1
Mazzone, E.S.2
Solari, A.3
Morandi, L.4
-
13
-
-
0042383467
-
Role of gabapentin in spinal muscular atrophy: Results of a multicenter, randomized Italian study
-
Merlini L, Solari A, Vita G, et al. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol 2003;18:537-541.
-
(2003)
J Child Neurol
, vol.18
, pp. 537-541
-
-
Merlini, L.1
Solari, A.2
Vita, G.3
-
14
-
-
0035841813
-
Statistics notes: Analysing controlled trials with baseline and follow up measurements
-
Vickers AJ, Altman DG. Statistics notes: analysing controlled trials with baseline and follow up measurements. BMJ 2001;323:1123-1124.
-
(2001)
BMJ
, vol.323
, pp. 1123-1124
-
-
Vickers, A.J.1
Altman, D.G.2
-
15
-
-
0028904953
-
Natural history in proximal spinal muscular atrophy
-
Zerres K, Rudnik-Schonenborn S. Natural history in proximal spinal muscular atrophy. Arch Neurol 1995;52:518-523.
-
(1995)
Arch Neurol
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schonenborn, S.2
-
16
-
-
10244245060
-
Function changes in spinal muscular atrophy II and III. The DCN/SMA groups
-
Russman BS, Buncher CR, White M, Smaha FJ, Iannaconne ST. Function changes in spinal muscular atrophy II and III. The DCN/SMA groups. Neurology 1996;47:973-976.
-
(1996)
Neurology
, vol.47
, pp. 973-976
-
-
Russman, B.S.1
Buncher, C.R.2
White, M.3
Smaha, F.J.4
Iannaconne, S.T.5
-
18
-
-
33846043728
-
-
Butchbach MER, Le TT, Burghes AHM. Protective effects of butyrate analogues and prodrugs on a mouse model for spinal muscular atrophy. Viewer/Itinerary Planner 2004. Washington, DC: Society for Neuroscience. Abstract.
-
Butchbach MER, Le TT, Burghes AHM. Protective effects of butyrate analogues and prodrugs on a mouse model for spinal muscular atrophy. Viewer/Itinerary Planner 2004. Washington, DC: Society for Neuroscience. Abstract.
-
-
-
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