-
1
-
-
0018214740
-
Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence
-
J Pearn 1978 Genetic studies of acute infantile spinal muscular atrophy (SMA type i). An analysis of sex ratios, segregation ratios, and sex influence J Med Genet 15 6 414 417 1:STN:280:DyaE1M7jt1Cltw%3D%3D 10.1136/jmg.15.6.414 745212 (Pubitemid 9093441)
-
(1978)
Journal of Medical Genetics
, vol.15
, Issue.6
, pp. 414-417
-
-
Pearn, J.1
-
2
-
-
0027057672
-
International SMA consortium meeting
-
TL Munsat KE Davies 1992 International SMA consortium meeting. (26-28 june 1992, Bonn, Germany) Neuromuscul Disord 2 5-6 423 428 1:STN:280: DyaK3s3jslOlsg%3D%3D 10.1016/S0960-8966(06)80015-5 1300191 (Pubitemid 23104723)
-
(1992)
Neuromuscular Disorders
, vol.2
, Issue.5-6
, pp. 423-428
-
-
Munsat, T.L.1
Davis, K.E.2
-
3
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
1:CAS:528:DyaK2MXjtFegu74%3D 10.1016/0092-8674(95)90460-3 7813012
-
S Lefebvre L Burglen S Reboullet O Clermont P Burlet L Viollet B Benichou C Cruaud P Millasseau M Zeviani, et al. 1995 Identification and characterization of a spinal muscular atrophy-determining gene Cell 80 1 155 165 1:CAS:528:DyaK2MXjtFegu74%3D 10.1016/0092-8674(95)90460-3 7813012
-
(1995)
Cell
, vol.80
, Issue.1
, 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
-
4
-
-
0034007548
-
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)
-
DOI 10.1002/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9
-
B Wirth 2000 An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA) Hum Mutat 15 3 228 237 1:CAS:528:DC%2BD3cXitVGjtr0%3D 10.1002/(SICI)1098- 1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9 10679938 (Pubitemid 30132157)
-
(2000)
Human Mutation
, vol.15
, Issue.3
, pp. 228-237
-
-
Wirth, B.1
-
5
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
DOI 10.1038/sj.ejhg.5201102
-
C Andreassi C Angelozzi FD Tiziano T Vitali E De Vincenzi A Boninsegna M Villanova E Bertini A Pini G Neri C Brahe 2004 Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy Eur J Hum Genet 12 1 59 65 1:CAS:528:DC%2BD2cXls1Gi 10.1038/sj.ejhg.5201102 14560316 (Pubitemid 38180971)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.1
, 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
-
6
-
-
0242290062
-
Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells
-
DOI 10.1002/ana.10743
-
CJ Sumner TN Huynh JA Markowitz JS Perhac B Hill DD Coovert K Schussler X Chen J Jarecki AH Burghes JP Taylor KH Fischbeck 2003 Valproic acid increases SMN levels in spinal muscular atrophy patient cells Ann Neurol 54 5 647 654 1:CAS:528:DC%2BD3sXpsFChsb4%3D 10.1002/ana.10743 14595654 (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
-
8
-
-
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
-
L Brichta Y Hofmann E Hahnen FA Siebzehnrubl H Raschke I Blumcke IY Eyupoglu B Wirth 2003 Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy Hum Mol Genet 12 19 2481 2489 1:CAS:528:DC%2BD3sXnsVekt70%3D 10.1093/hmg/ddg256 12915451 (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
-
9
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
DOI 10.1038/sj.ejhg.5201320
-
C Brahe T Vitali FD Tiziano C Angelozzi AM Pinto F Borgo U Moscato E Bertini E Mercuri G Neri 2005 Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients Eur J Hum Genet 13 2 256 259 1:CAS:528:DC%2BD2MXnt1WmsQ%3D%3D 10.1038/sj.ejhg.5201320 15523494 (Pubitemid 40220572)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.2
, 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
-
10
-
-
9144269242
-
Pilot trial of phenylbutyrate in spinal muscular atrophy
-
DOI 10.1016/j.nmd.2003.11.006
-
E Mercuri E Bertini S Messina M Pelliccioni A D'Amico F Colitto M Mirabella FD Tiziano T Vitali C Angelozzi M Kinali M Main C Brahe 2004 Pilot trial of phenylbutyrate in spinal muscular atrophy Neuromuscul Disord 14 2 130 135 10.1016/j.nmd.2003.11.006 14733959 (Pubitemid 38083321)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.2
, 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
-
11
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
DOI 10.1002/ana.20548
-
SM Grzeschik M Ganta TW Prior WD Heavlin CH Wang 2005 Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells Ann Neurol 58 2 194 202 1:CAS:528:DC%2BD2MXps1Cgtbc%3D 10.1002/ana.20548 16049920 (Pubitemid 41098877)
-
(2005)
Annals of Neurology
, vol.58
, Issue.2
, pp. 194-202
-
-
Grzeschik, S.M.1
Ganta, M.2
Prior, T.W.3
Heavlin, W.D.4
Wang, C.H.5
-
12
-
-
0015454027
-
Mechanism of inhibition of deoxyribonucleic acid synthesis in Escherichia coli by hydroxyurea
-
1:CAS:528:DyaE3sXmslGguw%3D%3D 4565541
-
NK Sinha DP Snustad 1972 Mechanism of inhibition of deoxyribonucleic acid synthesis in Escherichia coli by hydroxyurea J Bacteriol 112 3 1321 1324 1:CAS:528:DyaE3sXmslGguw%3D%3D 4565541
-
(1972)
J Bacteriol
, vol.112
, Issue.3
, pp. 1321-1324
-
-
Sinha, N.K.1
Snustad, D.P.2
-
13
-
-
0025755560
-
Hydroxyurea as treatment for sickle cell anemia
-
1:STN:280:DyaK3MzisVaktA%3D%3D 1713911
-
S Charache 1991 Hydroxyurea as treatment for sickle cell anemia Hematol Oncol Clin North Am 5 3 571 583 1:STN:280:DyaK3MzisVaktA%3D%3D 1713911
-
(1991)
Hematol Oncol Clin North Am
, vol.5
, Issue.3
, pp. 571-583
-
-
Charache, S.1
-
14
-
-
33646058537
-
Rat liver-mediated metabolism of hydroxyurea to nitric oxide
-
1:CAS:528:DC%2BD28Xjsl2mu7o%3D 10.1016/j.freeradbiomed.2006.01.002 16632127
-
J Huang M Yakubu DB Kim-Shapiro SB King 2006 Rat liver-mediated metabolism of hydroxyurea to nitric oxide Free Radic Biol Med 40 9 1675 1681 1:CAS:528:DC%2BD28Xjsl2mu7o%3D 10.1016/j.freeradbiomed.2006.01.002 16632127
-
(2006)
Free Radic Biol Med
, vol.40
, Issue.9
, pp. 1675-1681
-
-
Huang, J.1
Yakubu, M.2
Kim-Shapiro, D.B.3
King, S.B.4
-
15
-
-
33644777580
-
Nitric oxide generation from hydroxyurea: Significance and implications for leukemogenesis in the management of myeloproliferative disorders
-
DOI 10.1182/blood-2005-08-3429
-
MJ Burkitt A Raafat 2006 Nitric oxide generation from hydroxyurea: significance and implications for leukemogenesis in the management of myeloproliferative disorders Blood 107 6 2219 2222 1:CAS:528: DC%2BD28XisFOjt7o%3D 10.1182/blood-2005-08-3429 16282342 (Pubitemid 43345538)
-
(2006)
Blood
, vol.107
, Issue.6
, pp. 2219-2222
-
-
Burkitt, M.J.1
Raafat, A.2
-
16
-
-
3242875750
-
Pharmacological induction of fetal hemoglobin synthesis using histone deacetylase inhibitors
-
H Cao 2004 Pharmacological induction of fetal hemoglobin synthesis using histone deacetylase inhibitors Hematology 9 3 223 233 1:CAS:528: DC%2BD2cXkvVWktr8%3D 10.1080/10245330410001701512 15204104 (Pubitemid 38997062)
-
(2004)
Hematology
, vol.9
, Issue.3
, pp. 223-233
-
-
Cao, H.1
-
17
-
-
1242315424
-
Increased soluble guanylate cyclase activity in the red blood cells of sickle cell patients
-
DOI 10.1111/j.1365-2141.2004.04810.x
-
N Conran C Oresco-Santos HC Acosta A Fattori ST Saad FF Costa 2004 Increased soluble guanylate cyclase activity in the red blood cells of sickle cell patients Br J Haematol 124 4 547 554 1:CAS:528:DC%2BD2cXhvF2rsbk%3D 10.1111/j.1365-2141.2004.04810.x 14984506 (Pubitemid 38230601)
-
(2004)
British Journal of Haematology
, vol.124
, Issue.4
, pp. 547-554
-
-
Conran, N.1
Oresco-Santos, C.2
Acosta, H.C.3
Fattori, A.4
Saad, S.T.O.5
Costa, F.F.6
-
19
-
-
33751385555
-
New nitric oxide-releasing zwitterions derived from polyamines
-
1:CAS:528:DyaK3sXhvFWisL8%3D 10.1021/jo00058a030
-
JA Hrabie JR Klose DA Wink LK Keefer 1993 New nitric oxide-releasing zwitterions derived from polyamines J Org Chem 58 6 1472 1476 1:CAS:528:DyaK3sXhvFWisL8%3D 10.1021/jo00058a030
-
(1993)
J Org Chem
, vol.58
, Issue.6
, pp. 1472-1476
-
-
Hrabie, J.A.1
Klose, J.R.2
Wink, D.A.3
Keefer, L.K.4
-
20
-
-
0026567721
-
Lack of tolerance to a 24-hour infusion of S-nitroso N- acetylpenicillamine (SNAP) in conscious rabbits
-
1:CAS:528:DyaK38Xht1Sls7c%3D 1731043
-
JE Shaffer BJ Han WH Chern FW Lee 1992 Lack of tolerance to a 24-hour infusion of S-nitroso N-acetylpenicillamine (SNAP) in conscious rabbits J Pharmacol Exp Ther 260 1 286 293 1:CAS:528:DyaK38Xht1Sls7c%3D 1731043
-
(1992)
J Pharmacol Exp Ther
, vol.260
, Issue.1
, pp. 286-293
-
-
Shaffer, J.E.1
Han, B.J.2
Chern, W.H.3
Lee, F.W.4
-
21
-
-
0027190721
-
Activation of human peripheral blood mononuclear cells by nitric oxide- generating compounds
-
HM Lander P Sehajpal DM Levine A Novogrodsky 1993 Activation of human peripheral blood mononuclear cells by nitric oxide-generating compounds J Immunol 150 4 1509 1516 1:CAS:528:DyaK3sXhvV2qsrc%3D 8432991 (Pubitemid 23127442)
-
(1993)
Journal of Immunology
, vol.150
, Issue.4
, pp. 1509-1516
-
-
Lander, H.M.1
Sehajpal, P.2
Levine, D.M.3
Novogrodsky, A.4
|