-
1
-
-
0034789780
-
Anticardiolipin antibodies in patients with primary antiphospholipid syndrome: a correlation between IgG titre and antibody-induced cell dysfunctions in neuronal cell cultures
-
Andreassi C., Zoli A., Riccio A., Scuderi F., Lombardi L., Altomonte L., and Eboli M.L. Anticardiolipin antibodies in patients with primary antiphospholipid syndrome: a correlation between IgG titre and antibody-induced cell dysfunctions in neuronal cell cultures. Clin. Rheumatol. 20 (2001) 314-318
-
(2001)
Clin. Rheumatol.
, vol.20
, pp. 314-318
-
-
Andreassi, C.1
Zoli, A.2
Riccio, A.3
Scuderi, F.4
Lombardi, L.5
Altomonte, L.6
Eboli, M.L.7
-
2
-
-
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., Villanova M., Bertini E., Pini A., Neri G., and Brahe C. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur. J. Hum. Genet. 12 (2004) 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
Villanova, M.7
Bertini, E.8
Pini, A.9
Neri, G.10
Brahe, C.11
-
3
-
-
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., Cizman Z., Di Prospero N.A., Pellizzoni L., Fischbeck K.H., and Sumner C.J. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J. Clin. Invest. 117 (2007) 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
Cizman, Z.7
Di Prospero, N.A.8
Pellizzoni, L.9
Fischbeck, K.H.10
Sumner, C.J.11
-
4
-
-
85047689522
-
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
-
Azzouz M., Le T., Ralph G.S., Walmsley L., Monani U.R., Lee D.C., Wilkes F., Mitrophanous K.A., Kingsman S.M., Burghes A.H., and Mazarakis N.D. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J. Clin. Invest. 114 (2004) 1726-1731
-
(2004)
J. Clin. Invest.
, vol.114
, pp. 1726-1731
-
-
Azzouz, M.1
Le, T.2
Ralph, G.S.3
Walmsley, L.4
Monani, U.R.5
Lee, D.C.6
Wilkes, F.7
Mitrophanous, K.A.8
Kingsman, S.M.9
Burghes, A.H.10
Mazarakis, N.D.11
-
5
-
-
27144495012
-
Effect of GABA agonists and GABA-A receptor modulators on cocaine- and food-maintained responding and cocaine discrimination in rats
-
Barrett A.C., Negus S.S., Mello N.K., and Caine S.B. Effect of GABA agonists and GABA-A receptor modulators on cocaine- and food-maintained responding and cocaine discrimination in rats. J. Pharmacol. Exp. Ther. 315 (2005) 858-871
-
(2005)
J. Pharmacol. Exp. Ther.
, vol.315
, pp. 858-871
-
-
Barrett, A.C.1
Negus, S.S.2
Mello, N.K.3
Caine, S.B.4
-
6
-
-
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., Moscato U., Bertini E., Mercuri E., and Neri G. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur. J. Hum. Genet. 13 (2005) 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
Moscato, U.7
Bertini, E.8
Mercuri, E.9
Neri, G.10
-
7
-
-
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., Eyupoglu I.Y., and Wirth B. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum. Mol. Genet. 12 (2003) 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
Eyupoglu, I.Y.7
Wirth, B.8
-
8
-
-
34447642872
-
Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy
-
Butchbach M.E., Edwards J.D., and Burghes A.H. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol. Dis. 27 (2007) 207-219
-
(2007)
Neurobiol. Dis.
, vol.27
, pp. 207-219
-
-
Butchbach, M.E.1
Edwards, J.D.2
Burghes, A.H.3
-
10
-
-
0001011390
-
Clinical and pathological studies of an hereditary neuropathy in mice (dystonia musculorum)
-
Duchen L.W., Strich S.J., and Falconer D.S. Clinical and pathological studies of an hereditary neuropathy in mice (dystonia musculorum). Brain 87 (1964) 367-378
-
(1964)
Brain
, vol.87
, pp. 367-378
-
-
Duchen, L.W.1
Strich, S.J.2
Falconer, D.S.3
-
11
-
-
0031149884
-
Long-term reciprocal changes in dopamine levels in prefrontal cortex versus nucleus accumbens in rats born by caesarean section compared to vaginal birth
-
El-Khodor B.F., and Boksa P. Long-term reciprocal changes in dopamine levels in prefrontal cortex versus nucleus accumbens in rats born by caesarean section compared to vaginal birth. Exp. Neurol. 145 (1997) 118-129
-
(1997)
Exp. Neurol.
, vol.145
, pp. 118-129
-
-
El-Khodor, B.F.1
Boksa, P.2
-
12
-
-
0030777358
-
Dantrolene inhibition of sarcoplasmic reticulum Ca2+ release by direct and specific action at skeletal muscle ryanodine receptors
-
Fruen B.R., Mickelson J.R., and Louis C.F. Dantrolene inhibition of sarcoplasmic reticulum Ca2+ release by direct and specific action at skeletal muscle ryanodine receptors. J Biol. Chem. 272 (1997) 26965-26971
-
(1997)
J Biol. Chem.
, vol.272
, pp. 26965-26971
-
-
Fruen, B.R.1
Mickelson, J.R.2
Louis, C.F.3
-
13
-
-
0942265996
-
Effects of modulators of sarcoplasmic Ca2+ release on the development of skeletal muscle fatigue
-
Germinario E., Esposito A., Megighian A., Midrio M., Betto R., and Danieli-Betto D. Effects of modulators of sarcoplasmic Ca2+ release on the development of skeletal muscle fatigue. J. Appl. Physiol. 96 (2004) 645-649
-
(2004)
J. Appl. Physiol.
, vol.96
, pp. 645-649
-
-
Germinario, E.1
Esposito, A.2
Megighian, A.3
Midrio, M.4
Betto, R.5
Danieli-Betto, D.6
-
14
-
-
23844454498
-
Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse
-
Grondard C., Biondi O., Armand A.S., Lecolle S., Della Gaspera B., Pariset C., Li H., Gallien C.L., Vidal P.P., Chanoine C., and Charbonnier F. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse. J. Neurosci. 25 (2005) 7615-7622
-
(2005)
J. Neurosci.
, vol.25
, pp. 7615-7622
-
-
Grondard, C.1
Biondi, O.2
Armand, A.S.3
Lecolle, S.4
Della Gaspera, B.5
Pariset, C.6
Li, H.7
Gallien, C.L.8
Vidal, P.P.9
Chanoine, C.10
Charbonnier, F.11
-
15
-
-
0036890669
-
Oxidative stress and disturbed glutamate transport in spinal muscular atrophy
-
Hayashi M., Araki S., Arai N., Kumada S., Itoh M., Tamagawa K., Oda M., and Morimatsu Y. Oxidative stress and disturbed glutamate transport in spinal muscular atrophy. Brain Dev. 24 (2002) 770-775
-
(2002)
Brain Dev.
, vol.24
, pp. 770-775
-
-
Hayashi, M.1
Araki, S.2
Arai, N.3
Kumada, S.4
Itoh, M.5
Tamagawa, K.6
Oda, M.7
Morimatsu, Y.8
-
16
-
-
27644537716
-
Challenges and opportunities in clinical trials for spinal muscular atrophy
-
Hirtz D., Iannaccone S., Heemskerk J., Gwinn-Hardy K., Moxley III R., and Rowland L.P. Challenges and opportunities in clinical trials for spinal muscular atrophy. Neurology 65 (2005) 1352-1357
-
(2005)
Neurology
, vol.65
, pp. 1352-1357
-
-
Hirtz, D.1
Iannaccone, S.2
Heemskerk, J.3
Gwinn-Hardy, K.4
Moxley III, R.5
Rowland, L.P.6
-
17
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
Hsieh-Li H.M., Chang J.G., Jong Y.J., Wu M.H., Wang N.M., Tsai C.H., and Li H. A mouse model for spinal muscular atrophy. Nat. Genet. 24 (2000) 66-70
-
(2000)
Nat. Genet.
, vol.24
, pp. 66-70
-
-
Hsieh-Li, H.M.1
Chang, J.G.2
Jong, Y.J.3
Wu, M.H.4
Wang, N.M.5
Tsai, C.H.6
Li, H.7
-
18
-
-
0034639745
-
Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III
-
Jablonka S., Schrank B., Kralewski M., Rossoll W., and Sendtner M. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. Hum. Mol. Genet. 9 (2000) 341-346
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 341-346
-
-
Jablonka, S.1
Schrank, B.2
Kralewski, M.3
Rossoll, W.4
Sendtner, M.5
-
19
-
-
26444523139
-
Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy
-
Jarecki J., Chen X., Bernardino A., Coovert D.D., Whitney M., Burghes A., Stack J., and Pollok B.A. Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Hum. Mol. Genet. 14 (2005) 2003-2018
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2003-2018
-
-
Jarecki, J.1
Chen, X.2
Bernardino, A.3
Coovert, D.D.4
Whitney, M.5
Burghes, A.6
Stack, J.7
Pollok, B.A.8
-
20
-
-
23444433455
-
Geotaxis and beyond: commentary on Motz and Alberts (2005)
-
author reply 543-534
-
Kreider J.C., and Blumberg M.S. Geotaxis and beyond: commentary on Motz and Alberts (2005). Neurotoxicol. Teratol. 27 (2005) 535-537 author reply 543-534
-
(2005)
Neurotoxicol. Teratol.
, vol.27
, pp. 535-537
-
-
Kreider, J.C.1
Blumberg, M.S.2
-
21
-
-
20144385587
-
SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
-
Le T.T., Pham L.T., Butchbach M.E., Zhang H.L., Monani U.R., Coovert D.D., Gavrilina T.O., Xing L., Bassell G.J., and Burghes A.H. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum. Mol. Genet. 14 (2005) 845-857
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 845-857
-
-
Le, T.T.1
Pham, L.T.2
Butchbach, M.E.3
Zhang, H.L.4
Monani, U.R.5
Coovert, D.D.6
Gavrilina, T.O.7
Xing, L.8
Bassell, G.J.9
Burghes, A.H.10
-
22
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995) 155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
23
-
-
0037669048
-
Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy
-
Lesbordes J.C., Cifuentes-Diaz C., Miroglio A., Joshi V., Bordet T., Kahn A., and Melki J. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Hum. Mol. Genet. 12 (2003) 1233-1239
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1233-1239
-
-
Lesbordes, J.C.1
Cifuentes-Diaz, C.2
Miroglio, A.3
Joshi, V.4
Bordet, T.5
Kahn, A.6
Melki, J.7
-
24
-
-
8844240017
-
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism
-
Lunn M.R., Root D.E., Martino A.M., Flaherty S.P., Kelley B.P., Coovert D.D., Burghes A.H., Man N.T., Morris G.E., Zhou J., Androphy E.J., Sumner C.J., and Stockwell B.R. Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism. Chem. Biol. 11 (2004) 1489-1493
-
(2004)
Chem. Biol.
, vol.11
, pp. 1489-1493
-
-
Lunn, M.R.1
Root, D.E.2
Martino, A.M.3
Flaherty, S.P.4
Kelley, B.P.5
Coovert, D.D.6
Burghes, A.H.7
Man, N.T.8
Morris, G.E.9
Zhou, J.10
Androphy, E.J.11
Sumner, C.J.12
Stockwell, B.R.13
-
25
-
-
0036713608
-
A mouse model of spinal and bulbar muscular atrophy
-
McManamny P., Chy H.S., Finkelstein D.I., Craythorn R.G., Crack P.J., Kola I., Cheema S.S., Horne M.K., Wreford N.G., O'Bryan M.K., De Kretser D.M., and Morrison J.R. A mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 11 (2002) 2103-2111
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2103-2111
-
-
McManamny, P.1
Chy, H.S.2
Finkelstein, D.I.3
Craythorn, R.G.4
Crack, P.J.5
Kola, I.6
Cheema, S.S.7
Horne, M.K.8
Wreford, N.G.9
O'Bryan, M.K.10
De Kretser, D.M.11
Morrison, J.R.12
-
26
-
-
9144269242
-
Pilot trial of phenylbutyrate in spinal muscular atrophy
-
Mercuri E., Bertini E., Messina S., Pelliccioni M., D'Amico A., Colitto F., Mirabella M., Tiziano F.D., Vitali T., Angelozzi C., Kinali M., Main M., and Brahe C. Pilot trial of phenylbutyrate in spinal muscular atrophy. Neuromuscul. Disord. 14 (2004) 130-135
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 130-135
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Pelliccioni, M.4
D'Amico, A.5
Colitto, F.6
Mirabella, M.7
Tiziano, F.D.8
Vitali, T.9
Angelozzi, C.10
Kinali, M.11
Main, M.12
Brahe, C.13
-
27
-
-
0034639645
-
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy
-
Monani U.R., Sendtner M., Coovert D.D., Parsons D.W., Andreassi C., Le T.T., Jablonka S., Schrank B., Rossol W., Prior T.W., Morris G.E., and Burghes A.H. The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum. Mol. Genet. 9 (2000) 333-339
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 333-339
-
-
Monani, U.R.1
Sendtner, M.2
Coovert, D.D.3
Parsons, D.W.4
Andreassi, C.5
Le, T.T.6
Jablonka, S.7
Schrank, B.8
Rossol, W.9
Prior, T.W.10
Morris, G.E.11
Burghes, A.H.12
-
28
-
-
0034703395
-
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase
-
Mounsey J.P., Mistry D.J., Ai C.W., Reddy S., and Moorman J.R. Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Hum. Mol. Genet. 9 (2000) 2313-2320
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2313-2320
-
-
Mounsey, J.P.1
Mistry, D.J.2
Ai, C.W.3
Reddy, S.4
Moorman, J.R.5
-
29
-
-
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., and Wirth B. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum. Genet. 120 (2006) 101-110
-
(2006)
Hum. Genet.
, vol.120
, pp. 101-110
-
-
Riessland, M.1
Brichta, L.2
Hahnen, E.3
Wirth, B.4
-
30
-
-
0030931720
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
Schrank B., Gotz R., Gunnersen J.M., Ure J.M., Toyka K.V., Smith A.G., and Sendtner M. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl. Acad. Sci. U. S. A. 94 (1997) 9920-9925
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
Gotz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.G.6
Sendtner, M.7
-
31
-
-
32044445564
-
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
-
Singh N.K., Singh N.N., Androphy E.J., and Singh R.N. Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron. Mol. Cell. Biol. 26 (2006) 1333-1346
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
32
-
-
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., Schussler K., Chen X., Jarecki J., Burghes A.H., Taylor J.P., and Fischbeck K.H. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann. Neurol. 54 (2003) 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
Schussler, K.7
Chen, X.8
Jarecki, J.9
Burghes, A.H.10
Taylor, J.P.11
Fischbeck, K.H.12
-
33
-
-
10344220545
-
Critical roles of the guanylyl cyclase B receptor in endochondral ossification and development of female reproductive organs
-
Tamura N., Doolittle L.K., Hammer R.E., Shelton J.M., Richardson J.A., and Garbers D.L. Critical roles of the guanylyl cyclase B receptor in endochondral ossification and development of female reproductive organs. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 17300-17305
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 17300-17305
-
-
Tamura, N.1
Doolittle, L.K.2
Hammer, R.E.3
Shelton, J.M.4
Richardson, J.A.5
Garbers, D.L.6
-
34
-
-
33645743043
-
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
-
Wirth B., Brichta L., Schrank B., Lochmuller H., Blick S., Baasner A., and Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum. Genet. 119 (2006) 422-428
-
(2006)
Hum. Genet.
, vol.119
, pp. 422-428
-
-
Wirth, B.1
Brichta, L.2
Schrank, B.3
Lochmuller, H.4
Blick, S.5
Baasner, A.6
Heller, R.7
|