-
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;80:155-65.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
-
2
-
-
33646121056
-
SMN mRNA and protein levels in peripheral blood: Biomarkers for SMA clinical trials
-
DOI 10.1212/01.wnl.0000201929.56928.13, PII 0000611420060411000021
-
Sumner CJ, Kolb SJ, Harmison GG, et al. SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 2006;66:1067-73. (Pubitemid 44044793)
-
(2006)
Neurology
, vol.66
, Issue.7
, pp. 1067-1073
-
-
Sumner, C.J.1
Kolb, S.J.2
Harmison, G.G.3
Jeffries, N.O.4
Schadt, K.5
Finkel, R.S.6
Dreyfuss, G.7
Fischbeck, K.H.8
-
3
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
DOI 10.1038/ng0797-265
-
Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997;16:265-9. (Pubitemid 27280210)
-
(1997)
Nature Genetics
, vol.16
, Issue.3
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
Dreyfuss, G.7
Melki, J.8
-
4
-
-
0242290062
-
Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells
-
DOI 10.1002/ana.10743
-
Sumner CJ, Huynh TN, Markowitz JA, et al. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 2003;54:647-54. (Pubitemid 37346071)
-
(2003)
Annals of Neurology
, vol.54
, Issue.5
, pp. 647-654
-
-
Sumner, C.J.1
Huynh, T.N.2
Markowitz, J.A.3
Perhac, J.S.4
Hill, B.5
Coovert, D.D.6
Schussler, K.7
Chen, X.8
Jarecki, J.9
Burghes, A.H.M.10
Taylor, J.P.11
Fischbeck, K.H.12
-
5
-
-
0141506887
-
Valproic acid increases the SMN2 protein level: A well-known drug as a potential therapy for spinal muscular atrophy
-
DOI 10.1093/hmg/ddg256
-
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;12:2481-9. (Pubitemid 37220412)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.19
, pp. 2481-2489
-
-
Brichta, L.1
Hofmann, Y.2
Hahnen, E.3
Siebzehnrubi, F.A.4
Raschke, H.5
Blumcke, I.6
Eyupoglu, I.Y.7
Wirth, B.8
-
6
-
-
33744803707
-
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
-
Brichta L, Holker I, Haug K, et al. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol 2006;59:970-5.
-
(2006)
Ann Neurol
, vol.59
, pp. 970-975
-
-
Brichta, L.1
Holker, I.2
Haug, K.3
-
7
-
-
58149260540
-
A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
-
Nguyen thi M, Humphrey E, Lam LT, et al. A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology 2008;71:1757-63.
-
(2008)
Neurology
, vol.71
, pp. 1757-1763
-
-
Nguyen Thi, M.1
Humphrey, E.2
Lam, L.T.3
-
8
-
-
34548083288
-
Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification 41
-
Tomaszewicz K, Kang P, Wu BL. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification 41. Beijing Da Xue Xue Bao 2005;37:55-7.
-
(2005)
Beijing Da Xue Xue Bao
, vol.37
, pp. 55-57
-
-
Tomaszewicz, K.1
Kang, P.2
Wu, B.L.3
-
9
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
Swoboda KJ, Scott CB, Reyna SP, et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 2009;4:-5268.
-
(2009)
PLoS One
, vol.4
, pp. 5268
-
-
Swoboda, K.J.1
Scott, C.B.2
Reyna, S.P.3
-
10
-
-
33747083488
-
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy
-
DOI 10.1212/01.wnl.0000231139.26253.d0, PII 0000611420060808000032
-
Weihl CC, Connolly AM, Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology 2006;67:500-1. (Pubitemid 44214981)
-
(2006)
Neurology
, vol.67
, Issue.3
, pp. 500-501
-
-
Weihl, C.C.1
Connolly, A.M.2
Pestronk, A.3
-
11
-
-
0028904953
-
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications
-
Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-23.
-
(1995)
Arch Neurol
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
-
12
-
-
52449111208
-
Natural history of SMA IIIb: Muscle strength decreases in a predictable sequence and magnitude
-
Deymeer F, Serdaroglu P, Parman Y, et al. Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude. Neurology 2008;71:644-9.
-
(2008)
Neurology
, vol.71
, pp. 644-649
-
-
Deymeer, F.1
Serdaroglu, P.2
Parman, Y.3
-
13
-
-
33645223062
-
A novel cell immunoassay to measure survival of motor neurons protein in blood cells
-
Kolb SJ, Gubitz AK, Olszewski RF Jr, et al. A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol 2006;6:6.
-
(2006)
BMC Neurol
, vol.6
, pp. 6
-
-
Kolb, S.J.1
Gubitz, A.K.2
Olszewski Jr., R.F.3
-
14
-
-
0036042048
-
Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: Three SMN2 copies fail to rescue some patients from the disease severity
-
DOI 10.1007/s00415-002-0811-4
-
Harada Y, Sutomo R, Sadewa AH, et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol 2002;249:1211-19. (Pubitemid 35025095)
-
(2002)
Journal of Neurology
, vol.249
, Issue.9
, pp. 1211-1219
-
-
Harada, Y.1
Sutomo, R.2
Sadewa, A.H.3
Akutsu, T.4
Takeshima, Y.5
Wada, H.6
Matsuo, M.7
Nishio, H.8
-
15
-
-
58049206781
-
Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
-
Hauke J, Riessland M, Lunke S, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 2009;18:304-17.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 304-317
-
-
Hauke, J.1
Riessland, M.2
Lunke, S.3
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