-
1
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkötter M., Schwarzer V., Wirth R., Wienker T.F., Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002, 70:358-368.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 358-368
-
-
Feldkötter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
2
-
-
0032991013
-
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands
-
Zerres K., Davies K.E. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord 1999, 9:272-278.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 272-278
-
-
Zerres, K.1
Davies, K.E.2
-
3
-
-
0025260440
-
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3
-
Brzustowicz L.M., Lehner T., Castilla L.H., Penchaszadeh G.K., Wilhelmsen K.C., Daniels R., et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 1990, 344:540-541.
-
(1990)
Nature
, vol.344
, pp. 540-541
-
-
Brzustowicz, L.M.1
Lehner, T.2
Castilla, L.H.3
Penchaszadeh, G.K.4
Wilhelmsen, K.C.5
Daniels, R.6
-
4
-
-
0025330316
-
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy
-
Gilliam T.C., Brzustowicz L.M., Castilla L.H., Lehner T., Penchaszadeh G.K., Daniels R.J., et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature 1990, 345:823-825.
-
(1990)
Nature
, vol.345
, pp. 823-825
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
Castilla, L.H.3
Lehner, T.4
Penchaszadeh, G.K.5
Daniels, R.J.6
-
5
-
-
0025319713
-
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
-
Melki J., Abdelhak S., Sheth P., Bachelot M.F., Burlet P., Marcadet A., et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature 1990, 344:767-768.
-
(1990)
Nature
, vol.344
, pp. 767-768
-
-
Melki, J.1
Abdelhak, S.2
Sheth, P.3
Bachelot, M.F.4
Burlet, P.5
Marcadet, A.6
-
6
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Bürglen L., Reboullet S., Clermont O., Burlet P., Viollet L., 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
Bürglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
-
7
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre S., Burlet P., Liu Q., Bertrandy S., Clermont O., Munnich A., et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997, 16:265-269.
-
(1997)
Nat Genet
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
Bertrandy, S.4
Clermont, O.5
Munnich, A.6
-
8
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat 2000, 15:228-237.
-
(2000)
Hum Mutat
, vol.15
, pp. 228-237
-
-
Wirth, B.1
-
9
-
-
0028842926
-
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients
-
Bussaglia E., Clermont O., Tizzano E., Lefebvre S., Bürglen L., Cruaud C., et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet 1995, 11:335-337.
-
(1995)
Nat Genet
, vol.11
, pp. 335-337
-
-
Bussaglia, E.1
Clermont, O.2
Tizzano, E.3
Lefebvre, S.4
Bürglen, L.5
Cruaud, C.6
-
10
-
-
0031215432
-
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
-
Rochette C.F., Surh L.C., Ray P.N., McAndrew P.E., Prior T.W., Burghes A.H.M., et al. Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics 1997, 1:141-147.
-
(1997)
Neurogenetics
, vol.1
, pp. 141-147
-
-
Rochette, C.F.1
Surh, L.C.2
Ray, P.N.3
McAndrew, P.E.4
Prior, T.W.5
Burghes, A.H.M.6
-
11
-
-
0032471510
-
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number
-
Parsons D.W., McAndrew P.E., Iannaccone S.T., Mendell J.R., Burghes A.H.M., Prior T.W. Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Am J Hum Genet 1998, 63:1712-1723.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1712-1723
-
-
Parsons, D.W.1
McAndrew, P.E.2
Iannaccone, S.T.3
Mendell, J.R.4
Burghes, A.H.M.5
Prior, T.W.6
-
12
-
-
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
-
Harada Y., Sutomo R., Sadewa A.H., Akutsu T., Takeshima Y., Wada H., 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, 249:1211-1219.
-
(2002)
J Neurol
, vol.249
, pp. 1211-1219
-
-
Harada, Y.1
Sutomo, R.2
Sadewa, A.H.3
Akutsu, T.4
Takeshima, Y.5
Wada, H.6
-
14
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani U.R., Lorson C.L., Parsons D.W., Prior T.W., Androphy E.J., Burghes A.H.M., et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999, 8:1177-1183.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.M.6
-
15
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999, 96:6307-6311.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
16
-
-
0037313165
-
Correction of disease-associated exon skipping by synthetic exon-specific activators
-
Cartegni L., Krainer A.R. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 2003, 10:120-125.
-
(2003)
Nat Struct Biol
, vol.10
, pp. 120-125
-
-
Cartegni, L.1
Krainer, A.R.2
-
17
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni L., Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002, 30:377-384.
-
(2002)
Nat Genet
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
18
-
-
0033983258
-
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
-
Lorson C.L., Androphy E.J. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000, 9:259-265.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 259-265
-
-
Lorson, C.L.1
Androphy, E.J.2
-
19
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima T., Manley J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003, 34:460-463.
-
(2003)
Nat Genet
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
20
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C., Jarecki J., Zhou J., Coovert D.D., Monani U.R., Chen X., et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 2001, 10:2841-2849.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2841-2849
-
-
Andreassi, C.1
Jarecki, J.2
Zhou, J.3
Coovert, D.D.4
Monani, U.R.5
Chen, X.6
-
21
-
-
0035158371
-
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
-
Zhang M.L., Lorson C.L., Androphy E.J., Zhou J. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther 2001, 8:1532-1538.
-
(2001)
Gene Ther
, vol.8
, pp. 1532-1538
-
-
Zhang, M.L.1
Lorson, C.L.2
Androphy, E.J.3
Zhou, J.4
-
22
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
Grzeschik S.M., Ganta M., Prior T.W., Heavlin W.D., Wang C.H. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 2005, 58:194-202.
-
(2005)
Ann Neurol
, vol.58
, pp. 194-202
-
-
Grzeschik, S.M.1
Ganta, M.2
Prior, T.W.3
Heavlin, W.D.4
Wang, C.H.5
-
23
-
-
0037183535
-
Pilot trial of albuterol in spinal muscular atrophy
-
Kinali M., Mercuri E., Main M., De Biasia F., Karatza A., Higgins R., et al. Pilot trial of albuterol in spinal muscular atrophy. Neurology 2002, 59:609-610.
-
(2002)
Neurology
, vol.59
, pp. 609-610
-
-
Kinali, M.1
Mercuri, E.2
Main, M.3
De Biasia, F.4
Karatza, A.5
Higgins, R.6
-
24
-
-
38349090169
-
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
-
Angelozzi C., Borgo F., Tiziano F.D., Martella A., Neri G., Brahe C. Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet 2008, 45:29-31.
-
(2008)
J Med Genet
, vol.45
, pp. 29-31
-
-
Angelozzi, C.1
Borgo, F.2
Tiziano, F.D.3
Martella, A.4
Neri, G.5
Brahe, C.6
-
25
-
-
46749083736
-
Daily salbutamol in young patients with SMA type II
-
Pane M., Staccioli S., Messina S., D'Amico A., Pelliccioni M., Mazzone E.S., et al. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 2008, 18:536-540.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 536-540
-
-
Pane, M.1
Staccioli, S.2
Messina, S.3
D'Amico, A.4
Pelliccioni, M.5
Mazzone, E.S.6
-
26
-
-
0037388256
-
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
-
Skordis L.A., Dunckley M.G., Yue B., Eperon I.C., Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA 2003, 100:4114-4119.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 4114-4119
-
-
Skordis, L.A.1
Dunckley, M.G.2
Yue, B.3
Eperon, I.C.4
Muntoni, F.5
-
27
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Hua Y., Sahashi K., Hung G., Rigo F., Passini M.A., Bennett C.F., et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 2010, 24:1634-1644.
-
(2010)
Genes Dev
, vol.24
, pp. 1634-1644
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
Rigo, F.4
Passini, M.A.5
Bennett, C.F.6
-
28
-
-
67449135902
-
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
-
Williams J.H., Schray R.C., Patterson C.A., Ayitey S.O., Tallent M.K., Lutz G.J. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci 2009, 29:7633-7638.
-
(2009)
J Neurosci
, vol.29
, pp. 7633-7638
-
-
Williams, J.H.1
Schray, R.C.2
Patterson, C.A.3
Ayitey, S.O.4
Tallent, M.K.5
Lutz, G.J.6
-
29
-
-
41549168514
-
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
-
Hua Y., Vickers T.A., Okunola H.L., Bennett C.F., Krainer A.R. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet 2008, 82:834-848.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 834-848
-
-
Hua, Y.1
Vickers, T.A.2
Okunola, H.L.3
Bennett, C.F.4
Krainer, A.R.5
-
30
-
-
77749301118
-
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
-
5ra12
-
Hastings M.L., Berniac J., Liu Y.H., Abato P., Jodelka F.M., Barthel L., et al. Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 2009, 1. 5ra12.
-
(2009)
Sci Transl Med
, vol.1
-
-
Hastings, M.L.1
Berniac, J.2
Liu, Y.H.3
Abato, P.4
Jodelka, F.M.5
Barthel, L.6
-
31
-
-
0034327218
-
Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes
-
Baron-Delage S., Abadie A., Echaniz-Laguna A., Melki J., Beretta L. Interferons and IRF-1 induce expression of the survival motor neuron (SMN) genes. Mol Med 2000, 6:957-968.
-
(2000)
Mol Med
, vol.6
, pp. 957-968
-
-
Baron-Delage, S.1
Abadie, A.2
Echaniz-Laguna, A.3
Melki, J.4
Beretta, L.5
-
32
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang J.G., Hsieh-Li H.M., Jong Y.J., Wang N.M., Tsai C.H., Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci USA 2001, 98:9808-9813.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 9808-9813
-
-
Chang, J.G.1
Hsieh-Li, H.M.2
Jong, Y.J.3
Wang, N.M.4
Tsai, C.H.5
Li, H.6
-
33
-
-
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., Siebzehnrubl F.A., Raschke H., Blumcke I., 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
Siebzehnrubl, F.A.4
Raschke, H.5
Blumcke, I.6
-
34
-
-
0242290062
-
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
-
Sumner C.J., Huynh T.N., Markowitz J.A., Perhac J.S., Hill B., Coovert D.D., 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
Perhac, J.S.4
Hill, B.5
Coovert, D.D.6
-
35
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
Brahe C., Vitali T., Tiziano F.D., Angelozzi C., Pinto A.M., Borgo F., 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
Angelozzi, C.4
Pinto, A.M.5
Borgo, F.6
-
36
-
-
33745686137
-
The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells
-
Riessland M., Brichta L., Hahnen E., Wirth B. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet 2006, 120:101-110.
-
(2006)
Hum Genet
, vol.120
, pp. 101-110
-
-
Riessland, M.1
Brichta, L.2
Hahnen, E.3
Wirth, B.4
-
37
-
-
33745079980
-
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
-
Hahnen E., Eyüpoglu I.Y., Brichta L., Haastert K., Tränkle C., Siebzehnrübl F.A., et al. In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem 2006, 98:193-202.
-
(2006)
J Neurochem
, vol.98
, pp. 193-202
-
-
Hahnen, E.1
Eyüpoglu, I.Y.2
Brichta, L.3
Haastert, K.4
Tränkle, C.5
Siebzehnrübl, F.A.6
-
38
-
-
33847358736
-
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
-
Avila A.M., Burnett B.G., Taye A.A., Gabanella F., Knight M.A., Hartenstein P., et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 2007, 117:659-671.
-
(2007)
J Clin Invest
, vol.117
, pp. 659-671
-
-
Avila, A.M.1
Burnett, B.G.2
Taye, A.A.3
Gabanella, F.4
Knight, M.A.5
Hartenstein, P.6
-
39
-
-
70350749543
-
LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate
-
Garbes L., Riessland M., Hölker I., Heller R., Hauke J., Tränkle C., et al. LBH589 induces up to 10-fold SMN protein levels by several independent mechanisms and is effective even in cells from SMA patients non-responsive to valproate. Hum Mol Genet 2009, 18:3645-3658.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3645-3658
-
-
Garbes, L.1
Riessland, M.2
Hölker, I.3
Heller, R.4
Hauke, J.5
Tränkle, C.6
-
40
-
-
33744803707
-
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
-
Brichta L., Holker I., Haug K., Klockgether T., Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol 2006, 59:970-975.
-
(2006)
Ann Neurol
, vol.59
, pp. 970-975
-
-
Brichta, L.1
Holker, I.2
Haug, K.3
Klockgether, T.4
Wirth, B.5
-
41
-
-
36248958610
-
Valproic acid treatment in six patients with spinal muscular atrophy
-
Tsai L.K., Yang C.C., Hwu W.L., Li H. Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol 2007, 14:e8-9.
-
(2007)
Eur J Neurol
, vol.14
-
-
Tsai, L.K.1
Yang, C.C.2
Hwu, W.L.3
Li, H.4
-
42
-
-
0021061819
-
Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays
-
Mosmann T. Rapid colorimetric assay for cellular growth and survival: application to proliferation and cytotoxicity assays. J Immunol Methods 1983, 65:55-63.
-
(1983)
J Immunol Methods
, vol.65
, pp. 55-63
-
-
Mosmann, T.1
-
43
-
-
61749099937
-
Regulation of SMN protein stability
-
Burnett B.G., Muñoz E., Tandon A., Kwon D.Y., Sumner C.J., Fischbeck K.H. Regulation of SMN protein stability. Mol Cell Biol 2009, 29:1107-1115.
-
(2009)
Mol Cell Biol
, vol.29
, pp. 1107-1115
-
-
Burnett, B.G.1
Muñoz, E.2
Tandon, A.3
Kwon, D.Y.4
Sumner, C.J.5
Fischbeck, K.H.6
-
44
-
-
18244383806
-
Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells
-
Göttlicher M., Minucci S., Zhu P., Krämer O.H., Schimpf A., Giavara S., et al. Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells. EMBO J 2001, 20:6969-6978.
-
(2001)
EMBO J
, vol.20
, pp. 6969-6978
-
-
Göttlicher, M.1
Minucci, S.2
Zhu, P.3
Krämer, O.H.4
Schimpf, A.5
Giavara, S.6
-
45
-
-
0035965343
-
Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen
-
Phiel C.J., Zhang F., Huang E.Y., Guenther M.G., Lazar M.A., Klein P.S. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen. J Biol Chem 2001, 276:36734-36741.
-
(2001)
J Biol Chem
, vol.276
, pp. 36734-36741
-
-
Phiel, C.J.1
Zhang, F.2
Huang, E.Y.3
Guenther, M.G.4
Lazar, M.A.5
Klein, P.S.6
-
46
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
-
Andreassi C., Angelozzi C., Tiziano F.D., Vitali T., De Vincenzi E., Boninsegna A., 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
Vitali, T.4
De Vincenzi, E.5
Boninsegna, A.6
-
47
-
-
0025827397
-
Comparison of valproate concentrations in human plasma, CSF and brain tissue after administration of different formulations of valproate or valpromide
-
Wieser H.G. Comparison of valproate concentrations in human plasma, CSF and brain tissue after administration of different formulations of valproate or valpromide. Epilepsy Res 1991, 9:154-159.
-
(1991)
Epilepsy Res
, vol.9
, pp. 154-159
-
-
Wieser, H.G.1
-
48
-
-
0034662922
-
Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann Y., Lorson C.L., Stamm S., Androphy E.J., Wirth B. Htra2-β1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000, 97:9618-9623.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
49
-
-
0037101846
-
HnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1
-
Hofmann Y., Wirth B. HnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1. Hum Mol Genet 2002, 11:2037-2049.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2037-2049
-
-
Hofmann, Y.1
Wirth, B.2
-
50
-
-
35148878581
-
Histone deacetylase inhibitors reduce steroidogenesis through SCF-mediated ubiquitination and degradation of steroidogenic factor 1 (NR5A1)
-
Chen W.Y., Weng J.H., Huang C.C., Chung B.C. Histone deacetylase inhibitors reduce steroidogenesis through SCF-mediated ubiquitination and degradation of steroidogenic factor 1 (NR5A1). Mol Cell Biol 2007, 27:7284-7290.
-
(2007)
Mol Cell Biol
, vol.27
, pp. 7284-7290
-
-
Chen, W.Y.1
Weng, J.H.2
Huang, C.C.3
Chung, B.C.4
-
51
-
-
0037119437
-
Distinct sets of adjacent heterogeneous nuclear ribonucleoprotein (hnRNP) A1/A2 binding sites control 5' splice site selection in the hnRNP A1 mRNA precursor
-
Hutchison S., LeBel C., Blanchette M., Chabot B. Distinct sets of adjacent heterogeneous nuclear ribonucleoprotein (hnRNP) A1/A2 binding sites control 5' splice site selection in the hnRNP A1 mRNA precursor. J Biol Chem 2002, 277:29745-29752.
-
(2002)
J Biol Chem
, vol.277
, pp. 29745-29752
-
-
Hutchison, S.1
LeBel, C.2
Blanchette, M.3
Chabot, B.4
-
52
-
-
33747083488
-
Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy
-
Weihl C.C., Connolly A.M., Pestronk A. Valproate may improve strength and function in patients with type III/IV spinal muscle atrophy. Neurology 2006, 67:500-501.
-
(2006)
Neurology
, vol.67
, pp. 500-501
-
-
Weihl, C.C.1
Connolly, A.M.2
Pestronk, A.3
-
53
-
-
52149098852
-
Hand-held dynamometry: reliability of lower extremity muscle testing in healthy, physically active, young adults
-
Kelln B.M., McKeon P.O., Gontkof L.M., Hertel J. Hand-held dynamometry: reliability of lower extremity muscle testing in healthy, physically active, young adults. J Sport Rehabil 2008, 17:160-170.
-
(2008)
J Sport Rehabil
, vol.17
, pp. 160-170
-
-
Kelln, B.M.1
McKeon, P.O.2
Gontkof, L.M.3
Hertel, J.4
-
54
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
Swoboda K.J., Scott C.B., Reyna S.P., Prior T.W., LaSalle B., Sorenson S.L., et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One 2009, 4:e5268.
-
(2009)
PLoS One
, vol.4
-
-
Swoboda, K.J.1
Scott, C.B.2
Reyna, S.P.3
Prior, T.W.4
LaSalle, B.5
Sorenson, S.L.6
-
55
-
-
70350342033
-
Valproic acid blocks excitability in SMA type I mouse motor neurons
-
Rak K., Lechner B.D., Schneider C., Drexl H., Sendtner M., Jablonka S. Valproic acid blocks excitability in SMA type I mouse motor neurons. Neurobiol Dis 2009, 36:477-487.
-
(2009)
Neurobiol Dis
, vol.36
, pp. 477-487
-
-
Rak, K.1
Lechner, B.D.2
Schneider, C.3
Drexl, H.4
Sendtner, M.5
Jablonka, S.6
-
56
-
-
0027223365
-
Valproate and sodium currents in cultured hippocampal neurons
-
Van den Berg R.J., Kok P., Voskuyl R.A. Valproate and sodium currents in cultured hippocampal neurons. Exp Brain Res 1993, 93:279-287.
-
(1993)
Exp Brain Res
, vol.93
, pp. 279-287
-
-
Van den Berg, R.J.1
Kok, P.2
Voskuyl, R.A.3
-
57
-
-
77957929588
-
S.M.A.C.A.R.N.I.-V.A.L. trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
-
Swoboda K.J., Scott C.B., Crawford T.O., Simard L.R., Reyna S.P., Krosschell K.J., et al. S.M.A.C.A.R.N.I.-V.A.L. trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PLoS One 2010, 5:e12140.
-
(2010)
PLoS One
, vol.5
-
-
Swoboda, K.J.1
Scott, C.B.2
Crawford, T.O.3
Simard, L.R.4
Reyna, S.P.5
Krosschell, K.J.6
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