-
1
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: Relevance for treatment of spinal muscular atrophy
-
DOI 10.1038/sj.ejhg.5201102
-
Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C. Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 2004;12:59-65. (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
-
2
-
-
38349090169
-
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
-
DOI 10.1136/jmg.2007.051177
-
Angelozzi C, Borgo F, Tiziano FD, 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. (Pubitemid 351158155)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.1
, pp. 29-31
-
-
Angelozzi, C.1
Borgo, F.2
Tiziano, F.D.3
Martella, A.4
Neri, G.5
Brahe, C.6
-
3
-
-
0030776040
-
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
-
DOI 10.1093/hmg/6.11.1961
-
Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M. Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 1997;6:1961-1971. (Pubitemid 27460374)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1961-1971
-
-
Battaglia, G.1
Princivalle, A.2
Forti, F.3
Lizier, C.4
Zeviani, M.5
-
4
-
-
13544258982
-
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients
-
DOI 10.1038/sj.ejhg.5201320
-
Brahe C, Vitali T, Tiziano FD, Angelozzi C, Pinto AM, Borgo F, et al. Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet 2005;13:256-259. (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
-
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, Siebzehnrubl FA, 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;19:2481-2489. (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
-
DOI 10.1002/ana.20836
-
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. (Pubitemid 43830929)
-
(2006)
Annals of Neurology
, vol.59
, Issue.6
, pp. 970-975
-
-
Brichta, L.1
Holker, I.2
Haug, K.3
Klockgether, T.4
Wirth, B.5
-
7
-
-
0030863569
-
When is a deletion not a deletion? When it is converted
-
Burghes A. When is a deletion not a deletion? When it is converted. Am J Hum Genet 1997;61:9.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 9
-
-
Burghes, A.1
-
8
-
-
0343267780
-
Structure and organization of the human survival motor neurone (SMN) gene
-
DOI 10.1006/geno.1996.0147
-
Bürglen L, Lefebvre S, Clermont O, Burlet P, Viollet L, Cruaud C, Munnich A, Melki J. Structure and organization of the human survival motor neurone (SMN) gene. Genomics 1996;32:479-482. (Pubitemid 26094355)
-
(1996)
Genomics
, vol.32
, Issue.3
, pp. 479-482
-
-
Burglen, L.1
Lefebvre, S.2
Clermont, O.3
Burlet, P.4
Viollet, L.5
Cruaud, C.6
Munnich, A.7
Melki, J.8
-
9
-
-
7844249275
-
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy
-
DOI 10.1093/hmg/7.12.1927
-
Burlet P, Huber C, Bertrandy S, et al. The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy. Hum Mol Genet 1998;7: 1927-1933. (Pubitemid 28499425)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.12
, pp. 1927-1933
-
-
Burlet, P.1
Huber, C.2
Bertrandy, S.3
Ludosky, M.A.4
Zwaenepoel, I.5
Clermont, O.6
Roume, J.7
Delezoide, A.L.8
Cartaud, J.9
Munnich, A.10
Lefebvre, S.11
-
10
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
DOI 10.1093/hmg/6.8.1205
-
Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997;6:1205-1214. (Pubitemid 27351059)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
Strasswimmer, J.4
Crawford, T.O.5
Mendell, J.R.6
Coulson, S.E.7
Androphy, E.J.8
Prior, T.W.9
Burghes, A.H.M.10
-
11
-
-
55849119559
-
Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
-
Sep 2, [Epub ahead of print]
-
Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D, Saladino F, Bordoni A, Fortunato F, Del Bo R, Papadimitriou D, Locatelli F, Menozzi G, Strazzer S, Bresolin N, Comi GP. Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest 2008 Sep 2; [Epub ahead of print].
-
(2008)
J Clin Invest
-
-
Corti, S.1
Nizzardo, M.2
Nardini, M.3
Donadoni, C.4
Salani, S.5
Ronchi, D.6
Saladino, F.7
Bordoni, A.8
Fortunato, F.9
Del Bo, R.10
Papadimitriou, D.11
Locatelli, F.12
Menozzi, G.13
Strazzer, S.14
Bresolin, N.15
Comi, G.P.16
-
12
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
DOI 10.1006/nbdi.1996.0010
-
Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 1996;3:97-110. (Pubitemid 26275339)
-
(1996)
Neurobiology of Disease
, vol.3
, Issue.2
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
13
-
-
31544446845
-
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings
-
DOI 10.1007/s00415-005-0912-y
-
Cuscó I, Barceló MJ, Rojas-García R, Illa I, Gámez J, Cervera C, Pou A, Izquierdo G, Baiget M, Tizzano EF. SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol 2006;253:21-25. (Pubitemid 43157383)
-
(2006)
Journal of Neurology
, vol.253
, Issue.1
, pp. 21-25
-
-
Cusco, I.1
Barcelo, M.J.2
Rojas-Garcia, R.3
Illa, I.4
Gamez, J.5
Cervera, C.6
Pou, A.7
Izquierdo, G.8
Baiget, M.9
Tizzano, E.F.10
-
14
-
-
0037387885
-
Prevalence of SMN1 deletion and duplication in carrier and normal populations: Implication for genetic counselling
-
Cusin V, Clermont O, Gérard B, Chantereau D, Elion J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003;40:e39.
-
(2003)
J Med Genet
, vol.40
-
-
Cusin, V.1
Clermont, O.2
Gérard, B.3
Chantereau, D.4
Elion, J.5
-
15
-
-
0012883580
-
Morphology of the lower motor neuron and muscle
-
Gamstorp I, Sarnat HB editors, Raven Press, New York
-
Fidzianska A, Hausmanowa-Petrusewicz I. Morphology of the lower motor neuron and muscle. In: Gamstorp I, Sarnat HB editors. Progressive Spinal Muscular Atrophies. Raven Press, New York; 1984:55-89.
-
(1984)
Progressive Spinal Muscular Atrophies
, pp. 55-89
-
-
Fidzianska, A.1
Hausmanowa-Petrusewicz, I.2
-
16
-
-
0025215242
-
Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism
-
Fidzianska A, Goebel HH,Warlo I. Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain 1990;113 ( Pt 2):433-445. (Pubitemid 20136151)
-
(1990)
Brain
, vol.113
, Issue.2
, pp. 433-445
-
-
Fidzianska, A.1
Goebel, H.H.2
Warlo, I.3
-
17
-
-
0036941003
-
Motoneuron death in normal and spinal muscular atrophy-affected human fetuses
-
Fidzianska A, Rafalowska J. Motoneuron death in normal and spinal muscular atrophyaffected human fetuses. Acta Neuropathol 2002;104:363-368. (Pubitemid 36075400)
-
(2002)
Acta Neuropathologica
, vol.104
, Issue.4
, pp. 363-368
-
-
Fidzianska, A.1
Rafalowska, J.2
-
18
-
-
0032568567
-
Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues
-
DOI 10.1073/pnas.95.11.6492
-
Francis JW, Sandrock AW, Bhide PG, Vonsattel JP, Brown RH Jr. Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues. Proc Natl Acad Sci USA 1998;95:6492-6497. (Pubitemid 28249041)
-
(1998)
Proceedings of the National Academy of Sciences of the United States of America
, vol.95
, Issue.11
, pp. 6492-6497
-
-
Francis, J.W.1
Sandrock, A.W.2
Bhide, P.G.3
Vonsattel, J.-P.4
Brown Jr., R.H.5
-
19
-
-
0034701295
-
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy
-
Frugier T, Tiziano FD, Cifuentes-Diaz C, Miniou P, Roblot N, Dierich A, et al. Nuclear targeting defect of SMN laking the C-terminus in a mouse model of spinal muscular atrophy. Hum Mol Genet 2000; 9:849-858. (Pubitemid 30162771)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.5
, pp. 849-858
-
-
Frugier, T.1
Tiziano, F.D.2
Cifuentes-Diaz, C.3
Miniou, P.4
Roblot, N.5
Dierich, A.6
Le Meur, M.7
Melki, J.8
-
20
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
DOI 10.1002/ana.20548
-
Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 2005;58:194-202. (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
-
21
-
-
0019159638
-
Is Kugelberg-Welander spinal muscular atrophy a fetal defect?
-
DOI 10.1002/mus.880030503
-
Hausmanowa-Petrusewicz I, Fidzianska A, Niebroj-Dobosz I, Strugalska MH. Is Kugelberg- Welander spinal muscular atrophy a fetal defect? Muscle Nerve 1980;3:389-402. (Pubitemid 11191516)
-
(1980)
Muscle and Nerve
, vol.3
, Issue.5
, pp. 389-402
-
-
Hausmanowa-Petrusewicz, I.1
Fidzianska, A.2
Niebroj-Dobosz, I.3
Strugalska, M.H.4
-
22
-
-
0033987669
-
A mouse model for spinal muscular atrophy
-
DOI 10.1038/71709
-
Hsieh-Li HM, Chang JG, Jong YJ, et al. A mouse model for spinal muscular atrophy. Nat Genet 2000;24:66-70. (Pubitemid 30041423)
-
(2000)
Nature Genetics
, vol.24
, Issue.1
, 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
-
23
-
-
0021709296
-
Investigation of nonimmune hydrops fetalis
-
Holzgreve W, Curry CJ, Golbus MS, Callen PW, Filly RA, Smith JC. Investigation of nonimmune hydrops fetalis. Am J Obstet Gynecol 1984;150:805-812. (Pubitemid 15237758)
-
(1984)
American Journal of Obstetrics and Gynecology
, vol.150
, Issue.7
, pp. 805-812
-
-
Holzgreve, W.1
Curry, C.J.R.2
Golbus, M.S.3
-
24
-
-
48249145306
-
Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
-
Kariya S, Park GH, Maeno-Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy Hum Mol Genet 2008;17:2552-2569.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2552-2569
-
-
Kariya, S.1
Park, G.H.2
Maeno-Hikichi, Y.3
Leykekhman, O.4
Lutz, C.5
Arkovitz, M.S.6
Landmesser, L.T.7
Monani, U.R.8
-
25
-
-
0034700180
-
Survival motor neuron protein modulates neuron-specific apoptosis
-
Kerr DA, Nery JP, Traystman RJ, Chau BN, Hardwick JM. Survival motor neuron protein modulates neuron-specific apoptosis. Proc Natl Acad Sci USA 2000;97:13312-13317.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13312-13317
-
-
Kerr, D.A.1
Nery, J.P.2
Traystman, R.J.3
Chau, B.N.4
Hardwick, J.M.5
-
26
-
-
33646386184
-
Longitudinal study of fetal behaviour by 4D ultrasound
-
Kurjak A.,Andonotopo W, Stanojevic M, Milenkovic D, Azumendi G., Hafner T, Ujevic B. Longitudinal study of fetal behaviour by 4D ultrasound. Ultras Rev Obst Gynecol 2005; 5:259-275.
-
(2005)
Ultras Rev Obst Gynecol
, vol.5
, pp. 259-275
-
-
Kurjak, A.1
Andonotopo, W.2
Stanojevic, M.3
Milenkovic, D.4
Azumendi, G.5
Hafner, T.6
Ujevic, B.7
-
27
-
-
0028797783
-
Identification and characterization of spinal muscular atrophy determining gene
-
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Bulret P, Viollet L, et al. Identification and characterization of 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
Bulret, P.5
Viollet, L.6
-
28
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
DOI 10.1038/ng0797-265
-
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. (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
-
29
-
-
0029954338
-
A novel nuclear structure containing the survival of motor neurons protein
-
Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996;15:3555-3565. (Pubitemid 26239768)
-
(1996)
EMBO Journal
, vol.15
, Issue.14
, pp. 3555-3565
-
-
Liu, Q.1
Dreyfuss, G.2
-
30
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
DOI 10.1073/pnas.96.11.6307
-
Lorson CL, Hahnen E, Androphy EJ,Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. PNAS USA 1999; 96:6307-6311. (Pubitemid 29256661)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.11
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
31
-
-
0032931530
-
Prenatal onset spinal muscular atrophy
-
MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal onset spinal muscular atrophy. Eur J Paediatr Neurol 1999; 3:65-72. (Pubitemid 29193245)
-
(1999)
European Journal of Paediatric Neurology
, vol.3
, Issue.2
, pp. 65-72
-
-
Macleod, M.J.1
Taylor, J.E.2
Lunt, P.W.3
Mathew, C.G.4
Robb, S.A.5
-
33
-
-
70149104463
-
The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation
-
Martínez-Hernández R, Soler-Botija C, Also E, Alias E, Casellas L, Gich I, Bernal S, Tizzano EF. The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation. J Neuropathol Exp Neurol 2009;68:474-481.
-
(2009)
J Neuropathol Exp Neurol
, vol.68
, pp. 474-481
-
-
Martínez-Hernández, R.1
Soler-Botija, C.2
Also, E.3
Alias, E.4
Casellas, L.5
Gich, I.6
Bernal, S.7
Tizzano, E.F.8
-
34
-
-
33846114574
-
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
-
DOI 10.1212/01.wnl.0000249142.82285.d6, PII 0000611420070102000015
-
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology 2007;68:51-55. (Pubitemid 46058552)
-
(2007)
Neurology
, vol.68
, Issue.1
, pp. 51-55
-
-
Mercuri, E.1
Bertini, E.2
Messina, S.3
Solari, A.4
D'Amico, A.5
Angelozzi, C.6
Battini, R.7
Berardinelli, A.8
Boffi, P.9
Bruno, C.10
Cini, C.11
Colitto, F.12
Kinali, M.13
Minetti, C.14
Mongini, T.15
Morandi, L.16
Neri, G.17
Orcesi, S.18
Pane, M.19
Pelliccioni, M.20
Pini, A.21
Tiziano, F.D.22
Villanova, M.23
Vita, G.24
Brahe, C.25
more..
-
35
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
DOI 10.1093/hmg/8.7.1177
-
Monani UR, Lorson CL, Parsons DW, 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. (Pubitemid 29328985)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.7
, 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
McPherson, J.D.7
-
36
-
-
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 UR, Sendtner M, Coovert DD, Parsons DW, Andrassi C, Le TT, et al. 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 2000; 9: 333-339. (Pubitemid 30098725)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.3
, 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.M.12
-
37
-
-
0026058318
-
Cell death during development of the nervous system
-
Oppenheim R. Cell death during development of the nervous system Annu Rev Neurosci 1991; 14:453-501.
-
(1991)
Annu Rev Neurosci
, vol.14
, pp. 453-501
-
-
Oppenheim, R.1
-
38
-
-
42549088649
-
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
-
DOI 10.1126/science.1155085
-
Oprea GE, Kröber S, McWhorter ML, RossollW, Müller S, Krawczak M, Bassell GJ, Beattie CE,Wirth B. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008; 320(5875):524-527. (Pubitemid 351590664)
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 524-527
-
-
Oprea, G.E.1
Krober, S.2
McWhorter, M.L.3
Rossoll, W.4
Muller, S.5
Krawczak, M.6
Bassell, G.J.7
Beattie, C.E.8
Wirth, B.9
-
39
-
-
46749083736
-
Daily salbutamol in young patients with SMA type II
-
Pane M, Staccioli S,Messina S, D'Amico A, Pelliccioni M, Mazzone ES, Cuttini M, Alfieri P, Battini R, Main M, Muntoni F, Bertini E, Villanova M, Mercuri E. 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
Cuttini, M.7
Alfieri, P.8
Battini, R.9
Main, M.10
Muntoni, F.11
Bertini, E.12
Villanova, M.13
Mercuri, E.14
-
40
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
-
Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15:409-413. (Pubitemid 9093440)
-
(1978)
Journal of Medical Genetics
, vol.15
, Issue.6
, pp. 409-413
-
-
Pearn, J.1
-
41
-
-
34047148903
-
Chaperoning ribonucleoprotein biogenesis in health and disease
-
Pellizoni L. Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Report 2007; 8:340-345.
-
(2007)
EMBO Report
, vol.8
, pp. 340-345
-
-
Pellizoni, L.1
-
42
-
-
0031044187
-
Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy
-
DOI 10.1002/(SICI)1097-0223(199702)17:2<166::AID-PD14>3.0.CO;2-D
-
Rijhsinghani A, Yankowitz J, Howser D, Williamson R. Sonographic and maternal serum screening abnormalities in fetuses affected by spinal muscular atrophy. Prenat Diagn 1997; 17:166-169. (Pubitemid 27092835)
-
(1997)
Prenatal Diagnosis
, vol.17
, Issue.2
, pp. 166-169
-
-
Rijhsinghani, A.1
Yankowitz, J.2
Howser, D.3
Williamson, R.4
-
43
-
-
0032701375
-
Apoptosis of skeletal muscles during development and disease
-
Sandri M, Carraro U. Apoptosis of skeletal muscles during development and disease. Int J Biochem Cell Biol 1999; 31:1373-1390.
-
(1999)
Int J Biochem Cell Biol
, vol.31
, pp. 1373-1390
-
-
Sandri, M.1
Carraro, U.2
-
44
-
-
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
-
DOI 10.1073/pnas.94.18.9920
-
Schrank B, Gotz R, Gunnersen JM, et al. 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 1997; 94:9920-9925. (Pubitemid 27408166)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.18
, 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
-
45
-
-
0034061620
-
Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease
-
Simic G, Seso-Simic D, Lucassen PL, Islam A, Krsnik Z, Cviko A, et al. Ultrastructural analysis and TUNEL demonstrate motor neuron apoptosis in Werdnig-Hoffmann disease. J Neuropathol Exp Neurol 2000; 59:398-407. (Pubitemid 30257570)
-
(2000)
Journal of Neuropathology and Experimental Neurology
, vol.59
, Issue.5
, pp. 398-407
-
-
Simic, G.1
Seso-Simic, D.2
Lucassen, P.J.3
Islam, A.4
Krsnik, Z.5
Cviko, A.6
Jelasic, D.7
Barisic, N.8
Winblad, B.9
Kostovic, I.10
Kruslin, B.11
-
46
-
-
0028870442
-
Sixth Annual Stuart Reiner Memorial Lecture. Embryonic development of nerve and muscle
-
Sohal GS. Sixth Annual Stuart Reiner Memorial Lecture. Embryonic development of nerve and muscle. Muscle Nerve 1995;18:2-14.
-
(1995)
Muscle Nerve
, vol.18
, pp. 2-14
-
-
Sohal, G.S.1
-
47
-
-
37549049017
-
Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers
-
Stathas D, Kalfakis N, Kararizou E, Manta P. Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers. Acta Histochem 2008;110:53-58.
-
(2008)
Acta Histochem
, vol.110
, pp. 53-58
-
-
Stathas, D.1
Kalfakis, N.2
Kararizou, E.3
Manta, P.4
-
48
-
-
0036310343
-
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord
-
Soler-Botija C, Ferrer I, Gich I, Baiget M, Tizzano EF. Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord. Brain 2002; 125:1624-1634. (Pubitemid 34755176)
-
(2002)
Brain
, vol.125
, Issue.7
, pp. 1624-1634
-
-
Soler-Botija, C.1
Ferrer, I.2
Gich, I.3
Baiget, M.4
Tizzano, E.F.5
-
49
-
-
13844281212
-
Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord
-
DOI 10.1016/j.nmd.2004.11.006
-
Soler-Botija C, Cusco I, Lopez E, Clua A, Gich I, Baiget M, et al. Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord. Neuromuscul Disord 2005a; 15:253-258. (Pubitemid 40255781)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.3
, pp. 253-258
-
-
Soler-Botija, C.1
Cusco, I.2
Lopez, E.3
Clua, A.4
Gich, I.5
Baiget, M.6
Ferrer, I.7
Tizzano, E.F.8
-
50
-
-
15244356829
-
Implication of fetal SMN2 expression in type I SMA pathogenesis: Protection or pathological gain of function?
-
Soler-Botija C, Cusco I, Caselles L, et al. Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? J Neuropathol Exp Neurol 2005b; 64:215-223. (Pubitemid 40389230)
-
(2005)
Journal of Neuropathology and Experimental Neurology
, vol.64
, Issue.3
, pp. 215-223
-
-
Soler-Botija, C.1
Cusco, I.2
Caselles, L.3
Lopez, E.4
Baiget, M.5
Tizzano, E.F.6
-
51
-
-
0242290062
-
Valproic Acid Increases SMN Levels in Spinal Muscular Atrophy Patient Cells
-
DOI 10.1002/ana.10743
-
Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, Coovert DD, Schussler K, Chen X, Jarecki J, Burghes AH, Taylor JP, Fischbeck KH. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 2003;54:647-654. (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
-
52
-
-
33646135323
-
Therapeutics Development for Spinal Muscular Atrophy
-
DOI 10.1016/j.nurx.2006.01.010, PII S1545534306000290
-
Sumner CJ. Therapeutics development for spinal muscular atrophy. NeuroRx. 2006; 3: 235-245. (Pubitemid 44061706)
-
(2006)
NeuroRx
, vol.3
, Issue.2
, pp. 235-245
-
-
Sumner, C.J.1
-
53
-
-
65849222556
-
Phase II open label study of valproic acid in spinal muscular atrophy
-
Epub 2009 May 14
-
Swoboda KJ, Scott CB, Reyna SP, Prior TW, LaSalle B, Sorenson SL, Wood J, Acsadi G, Crawford TO, Kissel JT, Krosschell KJ, D'Anjou G, Bromberg MB, Schroth MK, Chan GM, Elsheikh B, Simard LR. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS One. 2009;4:e5268. Epub 2009 May 14.
-
(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
Wood, J.7
Acsadi, G.8
Crawford, T.O.9
Kissel, J.T.10
Krosschell, K.J.11
D'Anjou, G.12
Bromberg, M.B.13
Schroth, M.K.14
Chan, G.M.15
Elsheikh, B.16
Simard, L.R.17
-
54
-
-
0030221131
-
DNA fragmentation and bcl-2 expression in infantile spinal muscular atrophy
-
DOI 10.1016/0960-8966(96)00018-1
-
Tews DS, Goebel HH. DNA fragmentation and BCL-2 expression in infantile spinal muscular atrophy. Neuromuscul Disord. 1996; 6:265-273. (Pubitemid 26325323)
-
(1996)
Neuromuscular Disorders
, vol.6
, Issue.4
, pp. 265-273
-
-
Tews, D.S.1
Goebel, H.H.2
-
55
-
-
0031859373
-
Cell-specific survival motor neuron gene expression during human development of the central nervous system: Implications for the pathogenesis of spinal muscular atrophy
-
Tizzano EF, Cabot C, Baiget M. Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. Am J Pathol 1998; 153:355-361. (Pubitemid 28373646)
-
(1998)
American Journal of Pathology
, vol.153
, Issue.2
, pp. 355-361
-
-
Tizzano, E.F.1
Cabot, C.2
Baiget, M.3
-
56
-
-
0031927893
-
Outcome and early childhood follow-up of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation
-
DOI 10.1046/j.1469-0705.1998.11060407.x
-
Van Vugt JM, Tinnemans BW, Van Zalen-Sprock RM. Outcome and early childhood followup of chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks' gestation. Ultrasound Obstet Gynecol 1998; 11:407-409. (Pubitemid 28344742)
-
(1998)
Ultrasound in Obstetrics and Gynecology
, vol.11
, Issue.6
, pp. 407-409
-
-
Van Vugt, J.M.G.1
Tinnemans, B.W.S.2
Van Zalen-Sprock, R.M.3
-
57
-
-
33645743043
-
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
-
Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006;119:422-428.
-
(2006)
Hum Genet
, vol.119
, pp. 422-428
-
-
Wirth, B.1
Brichta, L.2
Schrank, B.3
Lochmüller, H.4
Blick, S.5
Baasner, A.6
Heller, R.7
-
58
-
-
0028273219
-
Choline acetyltransferase: Celebrating its fiftieth year
-
Wu D, Hersh LB. Choline acetyltransferase: celebrating its fiftieth year. J Neurochem 1994; 5:1653-1663. (Pubitemid 24121854)
-
(1994)
Journal of Neurochemistry
, vol.62
, Issue.5
, pp. 1653-1663
-
-
Wu, D.1
Hersh, L.B.2
|