-
1
-
-
0018906764
-
Classification of spinal muscular atrophies
-
Pearn J, (1980) Classification of spinal muscular atrophies. Lancet 1: 919-922.
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
2
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
Crawford TO, Pardo CA, (1996) The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis 3: 97-110.
-
(1996)
Neurobiol Dis
, vol.3
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
3
-
-
0018238065
-
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy
-
Pearn J, (1978) Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 15: 409-413.
-
(1978)
J Med Genet
, vol.15
, pp. 409-413
-
-
Pearn, J.1
-
4
-
-
69749083429
-
Differences in SMN1 allele frequencies among ethnic groups within North America
-
Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, et al. (2009) Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 46: 641-644.
-
(2009)
J Med Genet
, vol.46
, pp. 641-644
-
-
Hendrickson, B.C.1
Donohoe, C.2
Akmaev, V.R.3
Sugarman, E.A.4
Labrousse, P.5
-
5
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
-
6
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson CL, Hahnen E, Androphy EJ, Wirth B, (1999) A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci U S A 96: 6307-6311.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
7
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, et al. (1999) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 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
-
8
-
-
77649114471
-
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
-
Cho S, Dreyfuss G, (2010) A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev 24: 438-442.
-
(2010)
Genes Dev
, vol.24
, pp. 438-442
-
-
Cho, S.1
Dreyfuss, G.2
-
9
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, et al. (1997) Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 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
-
10
-
-
77953542008
-
Spinal muscular atrophy: new and emerging insights from model mice
-
Park GH, Kariya S, Monani UR, (2010) Spinal muscular atrophy: new and emerging insights from model mice. Curr Neurol Neurosci Rep 10: 108-117.
-
(2010)
Curr Neurol Neurosci Rep
, vol.10
, pp. 108-117
-
-
Park, G.H.1
Kariya, S.2
Monani, U.R.3
-
11
-
-
10744229981
-
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy
-
Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, et al. (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 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
-
12
-
-
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 FA, Raschke H, et al. (2003) Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 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
-
13
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, et al. (2001) Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A 98: 9808-9813.
-
(2001)
Proc Natl Acad Sci U S A
, 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
-
14
-
-
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, Holker I, Heller R, Hauke J, et al. (2009) 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 18: 3645-3658.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3645-3658
-
-
Garbes, L.1
Riessland, M.2
Holker, I.3
Heller, R.4
Hauke, J.5
-
15
-
-
0242290062
-
Valproic acid increases SMN levels in spinal muscular atrophy patient cells
-
Sumner CJ, Huynh TN, Markowitz JA, Perhac JS, Hill B, et al. (2003) Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol 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
-
16
-
-
77952295831
-
SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
-
Riessland M, Ackermann B, Forster A, Jakubik M, Hauke J, et al. (2010) SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19: 1492-1506.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1492-1506
-
-
Riessland, M.1
Ackermann, B.2
Forster, A.3
Jakubik, M.4
Hauke, J.5
-
17
-
-
33745079980
-
In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy
-
Hahnen E, Eyupoglu IY, Brichta L, Haastert K, Trankle C, et al. (2006) In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem 98: 193-202.
-
(2006)
J Neurochem
, vol.98
, pp. 193-202
-
-
Hahnen, E.1
Eyupoglu, I.Y.2
Brichta, L.3
Haastert, K.4
Trankle, C.5
-
18
-
-
77749301118
-
Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
-
Hastings ML, Berniac J, Liu YH, Abato P, Jodelka FM, et al. (2009) Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 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
-
19
-
-
34247388843
-
Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
-
Hua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR, (2007) Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol 5: e73.
-
(2007)
PLoS Biol
, vol.5
-
-
Hua, Y.1
Vickers, T.A.2
Baker, B.F.3
Bennett, C.F.4
Krainer, A.R.5
-
20
-
-
33750570039
-
Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts
-
Mattis VB, Rai R, Wang J, Chang CW, Coady T, et al. (2006) Novel aminoglycosides increase SMN levels in spinal muscular atrophy fibroblasts. Hum Genet 120: 589-601.
-
(2006)
Hum Genet
, vol.120
, pp. 589-601
-
-
Mattis, V.B.1
Rai, R.2
Wang, J.3
Chang, C.W.4
Coady, T.5
-
21
-
-
32044445564
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
-
Singh NK, Singh NN, Androphy EJ, Singh RN, (2006) 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: 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
-
22
-
-
85047689522
-
Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
-
Azzouz M, Le T, Ralph GS, Walmsley L, Monani UR, et al. (2004) Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest 114: 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
-
23
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
Foust KD, Wang X, McGovern VL, Braun L, Bevan AK, et al. (2010) Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28: 271-274.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 271-274
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
Braun, L.4
Bevan, A.K.5
-
24
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
Passini MA, Bu J, Roskelley EM, Richards AM, Sardi SP, et al. (2010) CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest 120: 1253-1264.
-
(2010)
J Clin Invest
, vol.120
, pp. 1253-1264
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
Richards, A.M.4
Sardi, S.P.5
-
25
-
-
4444240236
-
Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway
-
Chang HC, Hung WC, Chuang YJ, Jong YJ, (2004) Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int 45: 1107-1112.
-
(2004)
Neurochem Int
, vol.45
, pp. 1107-1112
-
-
Chang, H.C.1
Hung, W.C.2
Chuang, Y.J.3
Jong, Y.J.4
-
26
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J, Coovert DD, Monani UR, et al. (2001) Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet 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
-
27
-
-
38349090169
-
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
-
Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, et al. (2008) Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells. J Med Genet 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
-
28
-
-
77949889553
-
Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy
-
Butchbach ME, Singh J, Thorsteinsdottir M, Saieva L, Slominski E, et al. (2010) Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 19: 454-467.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 454-467
-
-
Butchbach, M.E.1
Singh, J.2
Thorsteinsdottir, M.3
Saieva, L.4
Slominski, E.5
-
29
-
-
23244458683
-
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
-
Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH, (2005) Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 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
-
30
-
-
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 DD, Whitney M, et al. (2005) 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: 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
-
31
-
-
58149146970
-
DcpS as a therapeutic target for spinal muscular atrophy
-
Singh J, Salcius M, Liu SW, Staker BL, Mishra R, et al. (2008) DcpS as a therapeutic target for spinal muscular atrophy. ACS Chem Biol 3: 711-722.
-
(2008)
ACS Chem Biol
, vol.3
, pp. 711-722
-
-
Singh, J.1
Salcius, M.2
Liu, S.W.3
Staker, B.L.4
Mishra, R.5
-
32
-
-
33645223062
-
A novel cell immunoassay to measure survival of motor neurons protein in blood cells
-
Kolb SJ, Gubitz AK, Olszewski RF Jr, Ottinger E, Sumner CJ, et al. (2006) A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol 6: 6.
-
(2006)
BMC Neurol
, vol.6
, pp. 6
-
-
Kolb, S.J.1
Gubitz, A.K.2
Olszewski Jr., R.F.3
Ottinger, E.4
Sumner, C.J.5
-
33
-
-
79960141504
-
Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid
-
Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, et al. (2011) Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid. J Neurol Neurosurg Psychiatry 82 (8): 850-852.
-
(2011)
J Neurol Neurosurg Psychiatry
, vol.82
, Issue.8
, pp. 850-852
-
-
Piepers, S.1
Cobben, J.M.2
Sodaar, P.3
Jansen, M.D.4
Wadman, R.I.5
-
34
-
-
33646121056
-
SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials
-
Sumner CJ, Kolb SJ, Harmison GG, Jeffries NO, Schadt K, et al. (2006) SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials. Neurology 66: 1067-1073.
-
(2006)
Neurology
, vol.66
, pp. 1067-1073
-
-
Sumner, C.J.1
Kolb, S.J.2
Harmison, G.G.3
Jeffries, N.O.4
Schadt, K.5
-
35
-
-
0032567036
-
A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
-
Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G, (1998) A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 95: 615-624.
-
(1998)
Cell
, vol.95
, pp. 615-624
-
-
Pellizzoni, L.1
Kataoka, N.2
Charroux, B.3
Dreyfuss, G.4
-
36
-
-
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 TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, et al. (2005) 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: 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
-
37
-
-
58149260540
-
A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy
-
Nguyen thi M, Humphrey E, Lam LT, Fuller HR, Lynch TA, et al. (2008) A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology 71: 1757-1763.
-
(2008)
Neurology
, vol.71
, pp. 1757-1763
-
-
Nguyen thi, M.1
Humphrey, E.2
Lam, L.T.3
Fuller, H.R.4
Lynch, T.A.5
-
38
-
-
0032952610
-
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis
-
Patrizi AL, Tiziano F, Zappata S, Donati MA, Neri G, et al. (1999) SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis. Eur J Hum Genet 7: 301-309.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 301-309
-
-
Patrizi, A.L.1
Tiziano, F.2
Zappata, S.3
Donati, M.A.4
Neri, G.5
-
39
-
-
79952660818
-
Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy
-
Sproule DM, Punyanitya M, Shen W, Dashnaw S, Martens B, et al. (2011) Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol 26: 309-317.
-
(2011)
J Child Neurol
, vol.26
, pp. 309-317
-
-
Sproule, D.M.1
Punyanitya, M.2
Shen, W.3
Dashnaw, S.4
Martens, B.5
-
40
-
-
0028812815
-
Comparison of cytokine production in blood cell cultures of healthy children and adults
-
Elsasser-Beile U, Dursunoglu B, Gallati H, Monting JS, von Kleist S, (1995) Comparison of cytokine production in blood cell cultures of healthy children and adults. Pediatr Allergy Immunol 6: 170-174.
-
(1995)
Pediatr Allergy Immunol
, vol.6
, pp. 170-174
-
-
Elsasser-Beile, U.1
Dursunoglu, B.2
Gallati, H.3
Monting, J.S.4
von Kleist, S.5
-
41
-
-
0030776040
-
Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system
-
Battaglia G, Princivalle A, Forti F, Lizier C, Zeviani M, (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6: 1961-1971.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1961-1971
-
-
Battaglia, G.1
Princivalle, A.2
Forti, F.3
Lizier, C.4
Zeviani, M.5
-
42
-
-
49449101788
-
Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies
-
Lorson MA, Spate LD, Prather RS, Lorson CL, (2008) Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies. Dev Dyn 237: 2268-2278.
-
(2008)
Dev Dyn
, vol.237
, pp. 2268-2278
-
-
Lorson, M.A.1
Spate, L.D.2
Prather, R.S.3
Lorson, C.L.4
-
43
-
-
80855144747
-
Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA
-
[Epub ahead of print]. doi:10.1007/s11248-011-9496-8
-
Lorson MA, Spate LD, Samuel MS, Murphy CN, Lorson CL, et al. (2011) Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. Transgenic Res [Epub ahead of print]. doi:10.1007/s11248-011-9496-8.
-
(2011)
Transgenic Res
-
-
Lorson, M.A.1
Spate, L.D.2
Samuel, M.S.3
Murphy, C.N.4
Lorson, C.L.5
-
44
-
-
77957878494
-
SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
-
Wishart TM, Huang JP, Murray LM, Lamont DJ, Mutsaers CA, et al. (2010) SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet 19: 4216-4228.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4216-4228
-
-
Wishart, T.M.1
Huang, J.P.2
Murray, L.M.3
Lamont, D.J.4
Mutsaers, C.A.5
-
45
-
-
33847358736
-
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
-
Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, et al. (2007) Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest 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
-
46
-
-
67449135902
-
Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy
-
Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, et al. (2009) Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci 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
-
47
-
-
77954132733
-
Digital necroses and vascular thrombosis in severe spinal muscular atrophy
-
Rudnik-Schoneborn S, Vogelgesang S, Armbrust S, Graul-Neumann L, Fusch C, et al. (2010) Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve 42: 144-147.
-
(2010)
Muscle Nerve
, vol.42
, pp. 144-147
-
-
Rudnik-Schoneborn, S.1
Vogelgesang, S.2
Armbrust, S.3
Graul-Neumann, L.4
Fusch, C.5
-
48
-
-
67651083652
-
Vascular perfusion abnormalities in infants with spinal muscular atrophy
-
Araujo Ade Q, Araujo M, Swoboda KJ, (2009) Vascular perfusion abnormalities in infants with spinal muscular atrophy. J Pediatr 155: 292-294.
-
(2009)
J Pediatr
, vol.155
, pp. 292-294
-
-
Araujo Ade, Q.1
Araujo, M.2
Swoboda, K.J.3
-
49
-
-
77956603926
-
Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene
-
Park GH, Maeno-Hikichi Y, Awano T, Landmesser LT, Monani UR, (2010) Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30: 12005-12019.
-
(2010)
J Neurosci
, vol.30
, pp. 12005-12019
-
-
Park, G.H.1
Maeno-Hikichi, Y.2
Awano, T.3
Landmesser, L.T.4
Monani, U.R.5
-
50
-
-
0036591665
-
The molecular bases of spinal muscular atrophy
-
Frugier T, Nicole S, Cifuentes-Diaz C, Melki J, (2002) The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev 12: 294-298.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 294-298
-
-
Frugier, T.1
Nicole, S.2
Cifuentes-Diaz, C.3
Melki, J.4
-
51
-
-
28744434333
-
The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation
-
Gabanella F, Carissimi C, Usiello A, Pellizzoni L, (2005) The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet 14: 3629-3642.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3629-3642
-
-
Gabanella, F.1
Carissimi, C.2
Usiello, A.3
Pellizzoni, L.4
-
52
-
-
44649093889
-
Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy
-
El-Khodor BF, Edgar N, Chen A, Winberg ML, Joyce C, et al. (2008) Identification of a battery of tests for drug candidate evaluation in the SMNDelta7 neonate model of spinal muscular atrophy. Exp Neurol 212: 29-43.
-
(2008)
Exp Neurol
, vol.212
, pp. 29-43
-
-
El-Khodor, B.F.1
Edgar, N.2
Chen, A.3
Winberg, M.L.4
Joyce, C.5
|