-
1
-
-
58849087509
-
Ramblings in the history of spinal muscular atrophy
-
Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord. 2009;19(1):69-73.
-
(2009)
Neuromuscul Disord
, vol.19
, Issue.1
, pp. 69-73
-
-
Dubowitz, V.1
-
2
-
-
44949282843
-
Workshop report: International SMA collaboration
-
doi:10.1016/0960-8966(91)90052-T
-
Munsat TL. Workshop report: international SMA collaboration. Neuromuscul Disord. 1991;1(2):81. doi:10.1016/0960-8966(91)90052-T.
-
(1991)
Neuromuscul Disord
, vol.1
, Issue.2
, pp. 81
-
-
Munsat, T.L.1
-
3
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-165.
-
(1995)
Cell
, vol.80
, Issue.1
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
-
4
-
-
0036368287
-
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
-
DOI 10.1097/00125817-200201000-00004
-
Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002;4(1):20-26. (Pubitemid 44698460)
-
(2002)
Genetics in Medicine
, vol.4
, Issue.1
, pp. 20-26
-
-
Mailman, M.D.1
Heinz, J.W.2
Papp, A.C.3
Snyder, P.J.4
Sedra, M.S.5
Wirth, B.6
Burghes, A.H.M.7
Prior, T.W.8
-
5
-
-
69449103716
-
A positive modifier of spinal muscular atrophy in the SMN2 gene
-
Prior TW, Krainer AR, Hua Y, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009;85(3):408-413.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.3
, pp. 408-413
-
-
Prior, T.W.1
Krainer, A.R.2
Hua, Y.3
-
6
-
-
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, 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 [printed correction appears in Hum Mol Genet. 2007;16(21):2648]. Hum Mol Genet. 2000;9(3):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
-
7
-
-
34548157546
-
Animal models of spinal muscular atrophy
-
DOI 10.1177/0883073807305667
-
Schmid A, DiDonato CJ. Animal models of spinal muscular atrophy. J Child Neurol. 2007;22(8):1004-1012. (Pubitemid 47308315)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 1004-1012
-
-
Schmid, A.1
DiDonato, C.J.2
-
8
-
-
34548152119
-
Molecular functions of the SMN complex
-
DOI 10.1177/0883073807305666
-
Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007;22(8):990-994. (Pubitemid 47308313)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 990-994
-
-
Kolb, S.J.1
Battle, D.J.2
Dreyfuss, G.3
-
9
-
-
67651083390
-
Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009;10(8):597-609.
-
(2009)
Nat Rev Neurosci
, vol.10
, Issue.8
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
10
-
-
34047148903
-
Chaperoning ribonucleoprotein biogenesis in health and disease
-
DOI 10.1038/sj.embor.7400941, PII 7400941
-
Pellizzoni L. Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep. 2007;8(4):340-345. (Pubitemid 46511034)
-
(2007)
EMBO Reports
, vol.8
, Issue.4
, pp. 340-345
-
-
Pellizzoni, L.1
-
11
-
-
73949149584
-
RNA processing defects associated with diseases of the motor neuron
-
Kolb SJ, Sutton S, Schoenberg DR. RNA processing defects associated with diseases of the motor neuron. Muscle Nerve. 2010;41(1):5-17.
-
(2010)
Muscle Nerve
, vol.41
, Issue.1
, pp. 5-17
-
-
Kolb, S.J.1
Sutton, S.2
Schoenberg, D.R.3
-
12
-
-
34548167361
-
Consensus statement for standard of care in spinal muscular atrophy
-
DOI 10.1177/0883073807305788
-
Wang CH, Finkel RS, Bertini ES, et al Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049. (Pubitemid 47308318)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.8
, pp. 1027-1049
-
-
Wang, C.H.1
Finkel, R.S.2
Bertini, E.S.3
Schroth, M.4
Simonds, A.5
Wong, B.6
Aloysius, A.7
Morrison, L.8
Main, M.9
Crawford, T.O.10
Trela, A.11
-
13
-
-
0001269734
-
Zwei fruhinfantile hereditare Falle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage
-
Werdnig G. Zwei fruhinfantile hereditare Falle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage. Arch Psychiatr Nervenkr. 1891;22:437-480.
-
(1891)
Arch Psychiatr Nervenkr
, vol.22
, pp. 437-480
-
-
Werdnig, G.1
-
14
-
-
0000020061
-
Uber chronische spinale Muskelatrophie im Kindersalter auf familiarer Basis
-
doi:10.1007/BF01668496
-
Hoffmann J. Uber chronische spinale Muskelatrophie im Kindersalter auf familiarer Basis. Deut Zeitsch Nervenheilkd. 1893;3(6):427-470. doi:10.1007/BF01668496.
-
(1893)
Deut Zeitsch Nervenheilkd
, vol.3
, Issue.6
, pp. 427-470
-
-
Hoffmann, J.1
-
15
-
-
0000089061
-
Heredofamilial juvenile muscular atrophy simulating muscular dystrophy
-
Kugelberg E, Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry. 1956;75(5):500-509.
-
(1956)
AMA Arch Neurol Psychiatry
, vol.75
, Issue.5
, pp. 500-509
-
-
Kugelberg, E.1
Welander, L.2
-
16
-
-
0014133530
-
Infantile muscular atrophy: A broad spectrum
-
Dubowitz V. Infantile muscular atrophy: a broad spectrum. Clin Proc Child Hosp Dist Columbia. 1967;23(8):223-239.
-
(1967)
Clin Proc Child Hosp Dist Columbia
, vol.23
, Issue.8
, pp. 223-239
-
-
Dubowitz, V.1
-
17
-
-
0035891862
-
Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients
-
Andreassi C, Jarecki J, Zhou J, et al. Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet. 2001;10(24):2841-2849. (Pubitemid 34026465)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.24
, pp. 2841-2849
-
-
Andreassi, C.1
Jarecki, J.2
Zhou, J.3
Coovert, D.D.4
Monani, U.R.5
Chen, X.6
Whitney, M.7
Pollok, B.8
Zhang, M.9
Androphy, E.10
Burghes, A.H.M.11
-
18
-
-
0035976992
-
Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
-
Lim SR, Hertel KJ. Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing. J Biol Chem. 2001;276(48):45476-45483.
-
(2001)
J Biol Chem
, vol.276
, Issue.48
, pp. 45476-45483
-
-
Lim, S.R.1
Hertel, K.J.2
-
19
-
-
0035859952
-
Treatment of spinal muscular atrophy by sodium butyrate
-
DOI 10.1073/pnas.171105098
-
Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A. 2001;98(17):9808-9813. (Pubitemid 32769385)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.17
, 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
-
20
-
-
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, et al. Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology. 2007;68(1):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..
-
21
-
-
41549168514
-
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
-
Hua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet. 2008;82(4):834-848.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.4
, pp. 834-848
-
-
Hua, Y.1
Vickers, T.A.2
Okunola, H.L.3
Bennett, C.F.4
Krainer, A.R.5
-
22
-
-
57049112253
-
A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo
-
Dickson A, Osman E, Lorson CL. A negatively acting bifunctional RNA increases survival motor neuron both in vitro and in vivo. Hum Gene Ther. 2008;19(11):1307-1315.
-
(2008)
Hum Gene Ther
, vol.19
, Issue.11
, pp. 1307-1315
-
-
Dickson, A.1
Osman, E.2
Lorson, C.L.3
-
23
-
-
55649102490
-
Development of a single vector system that enhances trans-splicing of SMN2 transcripts
-
Coady TH, Baughan TD, Shababi M, Passini MA, Lorson CL. Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One. 2008;3(10):e3468.
-
(2008)
PLoS One
, vol.3
, Issue.10
-
-
Coady, T.H.1
Baughan, T.D.2
Shababi, M.3
Passini, M.A.4
Lorson, C.L.5
-
24
-
-
77749249680
-
Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
-
doi:10.1038/nbt.1610
-
Foust KD, Wang X, McGovern VL, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010;28:271-274. doi:10.1038/nbt.1610.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 271-274
-
-
Foust, K.D.1
Wang, X.2
McGovern, V.L.3
-
25
-
-
77951201412
-
CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy
-
Passini MA, Bu J, Roskelley EM, et al. CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest. 2010;120(4):1253-1264.
-
(2010)
J Clin Invest
, vol.120
, Issue.4
, pp. 1253-1264
-
-
Passini, M.A.1
Bu, J.2
Roskelley, E.M.3
-
26
-
-
78751700314
-
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
-
Dominguez E, Marais T, Chatauret N, et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet. 2011;20(4):681-693.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.4
, pp. 681-693
-
-
Dominguez, E.1
Marais, T.2
Chatauret, N.3
-
27
-
-
32044445564
-
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron
-
DOI 10.1128/MCB.26.4.1333-1346.2006
-
Singh NK, Singh NN, Androphy EJ, Singh RN. 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. 2006;26(4):1333-1346. (Pubitemid 43202560)
-
(2006)
Molecular and Cellular Biology
, vol.26
, Issue.4
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
28
-
-
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, Lutz GJ. Oligonucleotide- mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci. 2009;29(24):7633-7638.
-
(2009)
J Neurosci
, vol.29
, Issue.24
, 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
-
-
77955894067
-
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
-
Hua Y, Sahashi K, Hung G, et al. Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev. 2010;24(15):1634-1644.
-
(2010)
Genes Dev
, vol.24
, Issue.15
, pp. 1634-1644
-
-
Hua, Y.1
Sahashi, K.2
Hung, G.3
-
30
-
-
64549161948
-
Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
-
Baughan TD, Dickson A, Osman EY, Lorson CL. Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum Mol Genet. 2009;18(9):1600-1611.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.9
, pp. 1600-1611
-
-
Baughan, T.D.1
Dickson, A.2
Osman, E.Y.3
Lorson, C.L.4
-
31
-
-
74849129866
-
Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy
-
Coady TH, Lorson CL. Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci. 2010;30(1):126-130.
-
(2010)
J Neurosci
, vol.30
, Issue.1
, pp. 126-130
-
-
Coady, T.H.1
Lorson, C.L.2
-
32
-
-
77955602597
-
Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
-
Valori CF, Ning K, Wyles M, et al. Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy. Sci Transl Med. 2010;2(35):35ra42.
-
(2010)
Sci Transl Med
, vol.2
, Issue.35
-
-
Valori, C.F.1
Ning, K.2
Wyles, M.3
-
33
-
-
77954137213
-
Newborn and carrier screening for spinal muscular atrophy
-
Prior TW, Snyder PJ, Rink BD, et al. Newborn and carrier screening for spinal muscular atrophy. Am J Med Genet A. 2010;152A(7):1608-1616.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.7
, pp. 1608-1616
-
-
Prior, T.W.1
Snyder, P.J.2
Rink, B.D.3
|