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Volumn 13, Issue 7, 2013, Pages 1160-1174

At the "junction" of spinal muscular atrophy pathogenesis: The role of neuromuscular junction dysfunction in SMA disease progression

Author keywords

Genetic disease; Neuromuscular junction; Pathogenesis; Spinal muscular atrophy

Indexed keywords

4 (1 AMINOETHYL) N (4 PYRIDYL) CYCLOHEXANECARBOXAMIDE; ACLARUBICIN; AMIKACIN; ANTIBIOTIC G 418; BETA ACTIN; BORTEZOMIB; BUTYRIC ACID; CARDIOTROPHIN 1; CHOLINERGIC RECEPTOR; F ACTIN; FASUDIL; FOLLISTATIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HYDROXYUREA; MYOSTATIN; PANOBINOSTAT; PROFILIN; PROLACTIN; PROTEIN ARGININE METHYLTRANSFERASE; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN; ROMIDEPSIN; SALBUTAMOL; SOMATOMEDIN BINDING PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; SYNAPTOTAGMIN I; TOBRAMYCIN; TRICHOSTATIN A; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALPROIC ACID; VORINOSTAT;

EID: 84880659519     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/15665240113139990044     Document Type: Review
Times cited : (44)

References (182)
  • 1
    • 77956373206 scopus 로고    scopus 로고
    • The genetics of spinal muscular atrophies
    • Wee CD, Kong L, Sumner CJ. The genetics of spinal muscular atrophies. Curr Opin Neurol 2010; 23(5): 450-458.
    • (2010) Curr Opin Neurol , vol.23 , Issue.5 , pp. 450-458
    • Wee, C.D.1    Kong, L.2    Sumner, C.J.3
  • 2
    • 0018238065 scopus 로고
    • 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(6): 409-413.
    • (1978) J Med Genet , vol.15 , Issue.6 , pp. 409-413
    • Pearn, J.1
  • 3
    • 0030765349 scopus 로고    scopus 로고
    • Spinal muscular atrophy
    • Melki J. Spinal muscular atrophy. Curr Opin Neurol 1997; 10(5): 381-385.
    • (1997) Curr Opin Neurol , vol.10 , Issue.5 , pp. 381-385
    • Melki, J.1
  • 4
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997; 60(6): 1411-1422.
    • (1997) Am J Hum Genet , vol.60 , Issue.6 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3
  • 5
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen 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    Burglen, L.2    Reboullet, S.3
  • 6
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002; 30(4): 377-384.
    • (2002) Nat Genet , vol.30 , Issue.4 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 7
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima T, Manley JL. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 2003; 34(4): 460-463.
    • (2003) Nat Genet , vol.34 , Issue.4 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 8
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96(11): 6307-6311.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.11 , pp. 6307-6311
    • Lorson, C.L.1    Hahnen, E.2    Androphy, E.J.3    Wirth, B.4
  • 9
    • 0032799998 scopus 로고    scopus 로고
    • A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
    • 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(7): 1177-1183.
    • (1999) Hum Mol Genet , vol.8 , Issue.7 , pp. 1177-1183
    • Monani, U.R.1    Lorson, C.L.2    Parsons, D.W.3
  • 10
    • 33645743043 scopus 로고    scopus 로고
    • Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number
    • Wirth B, Brichta L, Schrank B, et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006; 119(4): 422-428.
    • (2006) Hum Genet , vol.119 , Issue.4 , pp. 422-428
    • Wirth, B.1    Brichta, L.2    Schrank, B.3
  • 11
    • 0030981541 scopus 로고    scopus 로고
    • Correlation between severity and SMN protein level in spinal muscular atrophy
    • Lefebvre S, Burlet P, Liu Q, et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16(3): 265-269.
    • (1997) Nat Genet , vol.16 , Issue.3 , pp. 265-269
    • Lefebvre, S.1    Burlet, P.2    Liu, Q.3
  • 12
    • 0032954263 scopus 로고    scopus 로고
    • Very severe spinal muscular atrophy (SMA type 0): An expanding clinical phenotype
    • Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Pediatr Neurol 1999; 3(2): 49-51.
    • (1999) Eur J Pediatr Neurol , vol.3 , Issue.2 , pp. 49-51
    • Dubowitz, V.1
  • 14
    • 0027057672 scopus 로고
    • International SMA consortium meeting
    • (26-28 June 1992, Bonn, Germany)
    • Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992; 2(5-6): 423-428.
    • (1992) Neuromuscul Disord , vol.2 , Issue.5 , pp. 423-428
    • Munsat, T.L.1    Davies, K.E.2    Davies, K.E.3
  • 15
    • 0036154959 scopus 로고    scopus 로고
    • Quantitative analyses of SMN1 and SMN2 based on realtime lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
    • Feldkotter M, Schwarzer V, Wirth R, Wienker TF, Wirth B. Quantitative analyses of SMN1 and SMN2 based on realtime lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet 2002; 70(2): 358-368.
    • (2002) Am J Hum Genet , vol.70 , Issue.2 , pp. 358-368
    • Feldkotter, M.1    Schwarzer, V.2    Wirth, R.3    Wienker, T.F.4    Wirth, B.5
  • 16
    • 0036368287 scopus 로고    scopus 로고
    • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    • 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.
    • (2002) Genet Med , vol.4 , Issue.1 , pp. 20-26
    • Mailman, M.D.1    Heinz, J.W.2    Papp, A.C.3
  • 17
    • 84984934075 scopus 로고    scopus 로고
    • Inverse correlation between SMN1 and SMN2 copy numbers: Evidence for gene conversion from SMN2 to SMN1
    • Ogino S, Gao S, Leonard DG, Paessler M, Wilson RB. Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet 2003; 11(9): 723.
    • (2003) Eur J Hum Genet , vol.11 , Issue.9 , pp. 723
    • Ogino, S.1    Gao, S.2    Leonard, D.G.3    Paessler, M.4    Wilson, R.B.5
  • 18
    • 8544283791 scopus 로고    scopus 로고
    • The survival motor neuron protein in spinal muscular atrophy
    • Coovert DD, Le TT, McAndrew PE, et al. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 1997; 6(8): 1205-1214.
    • (1997) Hum Mol Genet , vol.6 , Issue.8 , pp. 1205-1214
    • Coovert, D.D.1    Le, T.T.2    McAndrew, P.E.3
  • 19
    • 7844249275 scopus 로고    scopus 로고
    • The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy
    • 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(12): 1927-1933.
    • (1998) Hum Mol Genet , vol.7 , Issue.12 , pp. 1927-1933
    • Burlet, P.1    Huber, C.2    Bertrandy, S.3
  • 20
    • 0029954338 scopus 로고    scopus 로고
    • 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(14): 3555-3565.
    • (1996) EMBO J , vol.15 , Issue.14 , pp. 3555-3565
    • Liu, Q.1    Dreyfuss, G.2
  • 21
    • 0032567036 scopus 로고    scopus 로고
    • A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing
    • Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell 1998; 95(5): 615-624.
    • (1998) Cell , vol.95 , Issue.5 , pp. 615-624
    • Pellizzoni, L.1    Kataoka, N.2    Charroux, B.3    Dreyfuss, G.4
  • 22
    • 0035325266 scopus 로고    scopus 로고
    • Nuclear gems and Cajal (coiled) bodies in fetal tissues: Nucleolar distribution of the spinal muscular atrophy protein, SMN
    • Young PJ, Le TT, Dunckley M, Nguyen TM, Burghes AH, Morris GE. Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN. Exp Cell Res 2001; 265(2): 252-261.
    • (2001) Exp Cell Res , vol.265 , Issue.2 , pp. 252-261
    • Young, P.J.1    Le, T.T.2    Dunckley, M.3    Nguyen, T.M.4    Burghes, A.H.5    Morris, G.E.6
  • 23
    • 0034194444 scopus 로고    scopus 로고
    • The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells
    • Young PJ, Le TT, Thi Man N, Burghes AH, Morris GE. The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells. Exp Cell Res 2000; 256(2): 365-374.
    • (2000) Exp Cell Res , vol.256 , Issue.2 , pp. 365-374
    • Young, P.J.1    Le, T.T.2    Thi Man, N.3    Burghes, A.H.4    Morris, G.E.5
  • 24
    • 0036647269 scopus 로고    scopus 로고
    • Survival motor neuron (SMN) protein: Role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development
    • Fan L, Simard LR. Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Hum Mol Genet 2002; 11(14): 1605-1614.
    • (2002) Hum Mol Genet , vol.11 , Issue.14 , pp. 1605-1614
    • Fan, L.1    Simard, L.R.2
  • 25
    • 33748186105 scopus 로고    scopus 로고
    • Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons
    • Zhang H, Xing L, Rossoll W, Wichterle H, Singer RH, Bassell GJ. Multiprotein complexes of the survival of motor neuron protein SMN with Gemins traffic to neuronal processes and growth cones of motor neurons. J Neurosci 2006; 26(33): 8622-8632.
    • (2006) J Neurosci , vol.26 , Issue.33 , pp. 8622-8632
    • Zhang, H.1    Xing, L.2    Rossoll, W.3    Wichterle, H.4    Singer, R.H.5    Bassell, G.J.6
  • 26
    • 0042202619 scopus 로고    scopus 로고
    • Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization
    • Zhang HL, Pan F, Hong D, Shenoy SM, Singer RH, Bassell GJ. Active transport of the survival motor neuron protein and the role of exon-7 in cytoplasmic localization. J Neurosci 2003; 23(16): 6627-6637.
    • (2003) J Neurosci , vol.23 , Issue.16 , pp. 6627-6637
    • Zhang, H.L.1    Pan, F.2    Hong, D.3    Shenoy, S.M.4    Singer, R.H.5    Bassell, G.J.6
  • 27
    • 0036154096 scopus 로고    scopus 로고
    • Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: A role for Smn in RNA processing in motor axons?
    • Rossoll W, Kroning AK, Ohndorf UM, Steegborn C, Jablonka S, Sendtner M. Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons? Hum Mol Genet 2002; 11(1): 93-105.
    • (2002) Hum Mol Genet , vol.11 , Issue.1 , pp. 93-105
    • Rossoll, W.1    Kroning, A.K.2    Ohndorf, U.M.3    Steegborn, C.4    Jablonka, S.5    Sendtner, M.6
  • 28
    • 0345599021 scopus 로고    scopus 로고
    • Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
    • Rossoll W, Jablonka S, Andreassi C, et al. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J Cell Biol 2003; 163(4): 801-812.
    • (2003) J Cell Biol , vol.163 , Issue.4 , pp. 801-812
    • Rossoll, W.1    Jablonka, S.2    Andreassi, C.3
  • 29
    • 84873044474 scopus 로고    scopus 로고
    • A novel function for the survival motoneuron protein as a translational regulator
    • Sanchez G, Dury AY, Murray LM, et al. A novel function for the survival motoneuron protein as a translational regulator. Hum Mol Genet 2013; 22(4): 668-684.
    • (2013) Hum Mol Genet , vol.22 , Issue.4 , pp. 668-684
    • Sanchez, G.1    Dury, A.Y.2    Murray, L.M.3
  • 30
    • 0033621413 scopus 로고    scopus 로고
    • A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems
    • Giesemann T, Rathke-Hartlieb S, Rothkegel M, et al. A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. J Biol Chem 1999; 274(53): 37908-37914.
    • (1999) J Biol Chem , vol.274 , Issue.53 , pp. 37908-37914
    • Giesemann, T.1    Rathke-Hartlieb, S.2    Rothkegel, M.3
  • 31
    • 23944482483 scopus 로고    scopus 로고
    • A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells
    • Sharma A, Lambrechts A, Hao le T, et al. A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Exp Cell Res 2005; 309(1): 185-197.
    • (2005) Exp Cell Res , vol.309 , Issue.1 , pp. 185-197
    • Sharma, A.1    Lambrechts, A.2    Le Hao, T.3
  • 32
    • 67651004474 scopus 로고    scopus 로고
    • SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis
    • Bowerman M, Anderson CL, Beauvais A, Boyl PP, Witke W, Kothary R. SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol Cell Neurosci 2009; 42(1): 66-74.
    • (2009) Mol Cell Neurosci , vol.42 , Issue.1 , pp. 66-74
    • Bowerman, M.1    Anderson, C.L.2    Beauvais, A.3    Boyl, P.P.4    Witke, W.5    Kothary, R.6
  • 33
    • 34648847089 scopus 로고    scopus 로고
    • Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity
    • Bowerman M, Shafey D, Kothary R. Smn depletion alters profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity. J Mol Neurosci 2007; 32(2): 120-131.
    • (2007) J Mol Neurosci , vol.32 , Issue.2 , pp. 120-131
    • Bowerman, M.1    Shafey, D.2    Kothary, R.3
  • 34
    • 78650281848 scopus 로고    scopus 로고
    • The many faces of SMN: Deciphering the function critical to spinal muscular atrophy pathogenesis
    • Boyer JG, Bowerman M, Kothary R. The many faces of SMN: deciphering the function critical to spinal muscular atrophy pathogenesis. Future Neurology 2010; 5(6): 873-890.
    • (2010) Future Neurology , vol.5 , Issue.6 , pp. 873-890
    • Boyer, J.G.1    Bowerman, M.2    Kothary, R.3
  • 35
    • 0038039295 scopus 로고    scopus 로고
    • Neuromuscular defects in a Drosophila survival motor neuron gene mutant
    • Chan YB, Miguel-Aliaga I, Franks C, et al. Neuromuscular defects in a Drosophila survival motor neuron gene mutant. Hum Mol Genet 2003; 12(12): 1367-1376.
    • (2003) Hum Mol Genet , vol.12 , Issue.12 , pp. 1367-1376
    • Chan, Y.B.1    Miguel-Aliaga, I.2    Franks, C.3
  • 36
    • 70350754456 scopus 로고    scopus 로고
    • Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
    • Boon KL, Xiao S, McWhorter ML, et al. Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Hum Mol Genet 2009; 18(19): 3615-3625.
    • (2009) Hum Mol Genet , vol.18 , Issue.19 , pp. 3615-3625
    • Boon, K.L.1    Xiao, S.2    McWhorter, M.L.3
  • 37
    • 0032718045 scopus 로고    scopus 로고
    • The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability
    • Miguel-Aliaga I, Culetto E, Walker DS, Baylis HA, Sattelle DB, Davies KE. The Caenorhabditis elegans orthologue of the human gene responsible for spinal muscular atrophy is a maternal product critical for germline maturation and embryonic viability. Hum Mol Genet 1999; 8(12): 2133-2143.
    • (1999) Hum Mol Genet , vol.8 , Issue.12 , pp. 2133-2143
    • Miguel-Aliaga, I.1    Culetto, E.2    Walker, D.S.3    Baylis, H.A.4    Sattelle, D.B.5    Davies, K.E.6
  • 38
    • 57649207934 scopus 로고    scopus 로고
    • Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan
    • Briese M, Esmaeili B, Fraboulet S, et al. Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet 2009; 18(1): 97-104.
    • (2009) Hum Mol Genet , vol.18 , Issue.1 , pp. 97-104
    • Briese, M.1    Esmaeili, B.2    Fraboulet, S.3
  • 39
    • 81355127316 scopus 로고    scopus 로고
    • Invertebrate models of spinal muscular atrophy: Insights into mechanisms and potential therapeutics
    • Grice SJ, Sleigh JN, Liu JL, Sattelle DB. Invertebrate models of spinal muscular atrophy: insights into mechanisms and potential therapeutics. Bioessays 2011; 33(12): 956-965.
    • (2011) Bioessays , vol.33 , Issue.12 , pp. 956-965
    • Grice, S.J.1    Sleigh, J.N.2    Liu, J.L.3    Sattelle, D.B.4
  • 40
    • 0030931720 scopus 로고    scopus 로고
    • 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 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 USA 1997; 94(18): 9920-9925.
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.18 , pp. 9920-9925
    • Schrank, B.1    Gotz, R.2    Gunnersen, J.M.3
  • 41
    • 0033765283 scopus 로고    scopus 로고
    • Animal models of spinal muscular atrophy
    • Monani UR, Coovert DD, Burghes AH. Animal models of spinal muscular atrophy. Hum Mol Genet 2000; 9(16): 2451-2457.
    • (2000) Hum Mol Genet , vol.9 , Issue.16 , pp. 2451-2457
    • Monani, U.R.1    Coovert, D.D.2    Burghes, A.H.3
  • 42
    • 20144385587 scopus 로고    scopus 로고
    • 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, et al. 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 2005; 14(6): 845-857.
    • (2005) Hum Mol Genet , vol.14 , Issue.6 , pp. 845-857
    • Le, T.T.1    Pham, L.T.2    Butchbach, M.E.3
  • 43
    • 77952318830 scopus 로고    scopus 로고
    • Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
    • Bowerman M, Beauvais A, Anderson CL, Kothary R. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010; 19(8): 1468-1478.
    • (2010) Hum Mol Genet , vol.19 , Issue.8 , pp. 1468-1478
    • Bowerman, M.1    Beauvais, A.2    Anderson, C.L.3    Kothary, R.4
  • 44
    • 73949131374 scopus 로고    scopus 로고
    • Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy
    • Liu H, Shafey D, Moores JN, Kothary R. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J Neurosci Res 2010; 88(1): 111-122.
    • (2010) J Neurosci Res , vol.88 , Issue.1 , pp. 111-122
    • Liu, H.1    Shafey, D.2    Moores, J.N.3    Kothary, R.4
  • 45
    • 84858072544 scopus 로고    scopus 로고
    • A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology
    • Bowerman M, Murray LM, Beauvais A, Pinheiro B, Kothary R. A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. Neuromuscul Disord 2012; 22(3): 263-276.
    • (2012) Neuromuscul Disord , vol.22 , Issue.3 , pp. 263-276
    • Bowerman, M.1    Murray, L.M.2    Beauvais, A.3    Pinheiro, B.4    Kothary, R.5
  • 46
    • 0035510567 scopus 로고    scopus 로고
    • Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing
    • DiDonato CJ, Lorson CL, De Repentigny Y, et al. Regulation of murine survival motor neuron (Smn) protein levels by modifying Smn exon 7 splicing. Hum Mol Genet 2001; 10(23): 2727-2736.
    • (2001) Hum Mol Genet , vol.10 , Issue.23 , pp. 2727-2736
    • Didonato, C.J.1    Lorson, C.L.2    de Repentigny, Y.3
  • 47
    • 78650827775 scopus 로고    scopus 로고
    • Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late
    • Hammond SM, Gogliotti RG, Rao V, Beauvais A, Kothary R, DiDonato CJ. Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. PLoS One 2010; 5(12): e15887.
    • (2010) PLoS One , vol.5 , Issue.12
    • Hammond, S.M.1    Gogliotti, R.G.2    Rao, V.3    Beauvais, A.4    Kothary, R.5    Didonato, C.J.6
  • 48
    • 80855144747 scopus 로고    scopus 로고
    • Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA
    • Lorson MA, Spate LD, Samuel MS, et al. Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. Transgenic Res 2011; 20(6): 1293-1304.
    • (2011) Transgenic Res , vol.20 , Issue.6 , pp. 1293-1304
    • Lorson, M.A.1    Spate, L.D.2    Samuel, M.S.3
  • 49
    • 49449101788 scopus 로고    scopus 로고
    • 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. Identification and characterization of the porcine (Sus scrofa) survival motor neuron (SMN1) gene: an animal model for therapeutic studies. Dev Dyn 2008; 237(8): 2268-2278.
    • (2008) Dev Dyn , vol.237 , Issue.8 , pp. 2268-2278
    • Lorson, M.A.1    Spate, L.D.2    Prather, R.S.3    Lorson, C.L.4
  • 50
    • 43049168361 scopus 로고    scopus 로고
    • SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing
    • Zhang Z, Lotti F, Dittmar K, et al. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 2008; 133(4): 585-600.
    • (2008) Cell , vol.133 , Issue.4 , pp. 585-600
    • Zhang, Z.1    Lotti, F.2    Dittmar, K.3
  • 51
    • 84867555865 scopus 로고    scopus 로고
    • An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function
    • Lotti F, Imlach WL, Saieva L, et al. An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 2012; 151(2): 440-454.
    • (2012) Cell , vol.151 , Issue.2 , pp. 440-454
    • Lotti, F.1    Imlach, W.L.2    Saieva, L.3
  • 52
    • 48249145306 scopus 로고    scopus 로고
    • Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy
    • Kariya S, Park GH, Maeno-Hikichi Y, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 2008; 17(16): 2552-2569.
    • (2008) Hum Mol Genet , vol.17 , Issue.16 , pp. 2552-2569
    • Kariya, S.1    Park, G.H.2    Maeno-Hikichi, Y.3
  • 53
    • 58849103600 scopus 로고    scopus 로고
    • Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
    • Kong L, Wang X, Choe DW, et al. Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 2009; 29(3): 842-851.
    • (2009) J Neurosci , vol.29 , Issue.3 , pp. 842-851
    • Kong, L.1    Wang, X.2    Choe, D.W.3
  • 54
    • 84866495021 scopus 로고    scopus 로고
    • Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy
    • Murray LM, Beauvais A, Bhanot K, Kothary R. Defects in neuromuscular junction remodelling in the Smn(2B/-) mouse model of spinal muscular atrophy. Neurobiology of Disease 2012; 49C: 57-67.
    • (2012) Neurobiology of Disease , vol.49 C , pp. 57-67
    • Murray, L.M.1    Beauvais, A.2    Bhanot, K.3    Kothary, R.4
  • 56
    • 27344454223 scopus 로고    scopus 로고
    • Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology
    • Shafey D, Cote PD, Kothary R. Hypomorphic Smn knockdown C2C12 myoblasts reveal intrinsic defects in myoblast fusion and myotube morphology. Exp Cell Res 2005; 311(1): 49-61.
    • (2005) Exp Cell Res , vol.311 , Issue.1 , pp. 49-61
    • Shafey, D.1    Cote, P.D.2    Kothary, R.3
  • 57
    • 70149104463 scopus 로고    scopus 로고
    • The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation
    • Martinez-Hernandez R, Soler-Botija C, Also E, et al. The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation. J Neuropathol Exp Neurol 2009; 68(5): 474-481.
    • (2009) J Neuropathol Exp Neurol , vol.68 , Issue.5 , pp. 474-481
    • Martinez-Hernandez, R.1    Soler-Botija, C.2    Also, E.3
  • 58
    • 77950651379 scopus 로고    scopus 로고
    • Identification of novel interacting protein partners of SMN using tandem affinity purification
    • Shafey D, Boyer JG, Bhanot K, Kothary R. Identification of novel interacting protein partners of SMN using tandem affinity purification. J Proteome Res 2010; 9(4): 1659-1669.
    • (2010) J Proteome Res , vol.9 , Issue.4 , pp. 1659-1669
    • Shafey, D.1    Boyer, J.G.2    Bhanot, K.3    Kothary, R.4
  • 59
    • 84864033638 scopus 로고    scopus 로고
    • A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein
    • Hayhurst M, Wagner AK, Cerletti M, Wagers AJ, Rubin LL. A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein. Dev Biol 2012; 368: 323-334.
    • (2012) Dev Biol , vol.368 , pp. 323-334
    • Hayhurst, M.1    Wagner, A.K.2    Cerletti, M.3    Wagers, A.J.4    Rubin, L.L.5
  • 60
    • 41849090089 scopus 로고    scopus 로고
    • Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect
    • Gavrilina TO, McGovern VL, Workman E, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet 2008; 17(8): 1063-1075.
    • (2008) Hum Mol Genet , vol.17 , Issue.8 , pp. 1063-1075
    • Gavrilina, T.O.1    McGovern, V.L.2    Workman, E.3
  • 61
    • 77957741150 scopus 로고    scopus 로고
    • Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery
    • Bevan AK, Hutchinson KR, Foust KD, et al. Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery. Hum Mol Genet 2010; 19(20): 3895-3905.
    • (2010) Hum Mol Genet , vol.19 , Issue.20 , pp. 3895-3905
    • Bevan, A.K.1    Hutchinson, K.R.2    Foust, K.D.3
  • 62
    • 84859650546 scopus 로고    scopus 로고
    • Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy
    • Shababi M, Habibi J, Ma L, Glascock JJ, Sowers JR, Lorson CL. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy. J Mol Cell Cardiol 2012; 52(5): 1074-1082.
    • (2012) J Mol Cell Cardiol , vol.52 , Issue.5 , pp. 1074-1082
    • Shababi, M.1    Habibi, J.2    Ma, L.3    Glascock, J.J.4    Sowers, J.R.5    Lorson, C.L.6
  • 63
    • 84858054407 scopus 로고    scopus 로고
    • Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction
    • Gogliotti RG, Quinlan KA, Barlow CB, Heier CR, Heckman CJ, Didonato CJ. Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory-motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 2012; 32(11): 3818-3829.
    • (2012) J Neurosci , vol.32 , Issue.11 , pp. 3818-3829
    • Gogliotti, R.G.1    Quinlan, K.A.2    Barlow, C.B.3    Heier, C.R.4    Heckman, C.J.5    Didonato, C.J.6
  • 64
    • 54049121013 scopus 로고    scopus 로고
    • Congenital heart disease is a feature of severe infantile spinal muscular atrophy
    • Rudnik-Schoneborn S, Heller R, Berg C, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 2008; 45(10): 635-638.
    • (2008) J Med Genet , vol.45 , Issue.10 , pp. 635-638
    • Rudnik-Schoneborn, S.1    Heller, R.2    Berg, C.3
  • 65
    • 78649723966 scopus 로고    scopus 로고
    • Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy
    • Ling KK, Lin MY, Zingg B, Feng Z, Ko CP. Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PloS One 2010; 5(11): e15457.
    • (2010) PloS One , vol.5 , Issue.11
    • Ling, K.K.1    Lin, M.Y.2    Zingg, B.3    Feng, Z.4    Ko, C.P.5
  • 66
    • 79551663958 scopus 로고    scopus 로고
    • Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy
    • Mentis GZ, Blivis D, Liu W, et al. Early functional impairment of sensory-motor connectivity in a mouse model of spinal muscular atrophy. Neuron 2011; 69(3): 453-467.
    • (2011) Neuron , vol.69 , Issue.3 , pp. 453-467
    • Mentis, G.Z.1    Blivis, D.2    Liu, W.3
  • 67
    • 77956603926 scopus 로고    scopus 로고
    • 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. 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 2010; 30(36): 12005-12019.
    • (2010) J Neurosci , vol.30 , Issue.36 , pp. 12005-12019
    • Park, G.H.1    Maeno-Hikichi, Y.2    Awano, T.3    Landmesser, L.T.4    Monani, U.R.5
  • 68
    • 80053902729 scopus 로고    scopus 로고
    • Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
    • Hua Y, Sahashi K, Rigo F, et al. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011; 478(7367): 123-126.
    • (2011) Nature , vol.478 , Issue.7367 , pp. 123-126
    • Hua, Y.1    Sahashi, K.2    Rigo, F.3
  • 69
    • 65649121522 scopus 로고    scopus 로고
    • Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
    • Millino C, Fanin M, Vettori A, et al. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med 2009; 7: 14.
    • (2009) BMC Med , vol.7 , pp. 14
    • Millino, C.1    Fanin, M.2    Vettori, A.3
  • 70
    • 84865592642 scopus 로고    scopus 로고
    • Glucose metabolism and pancreatic defects in spinal muscular atrophy
    • Bowerman M, Swoboda KJ, Michalski J-P, et al. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol 2012; 72: 256-268.
    • (2012) Ann Neurol , vol.72 , pp. 256-268
    • Bowerman, M.1    Swoboda, K.J.2    Michalski, J.-P.3
  • 71
    • 84862883258 scopus 로고    scopus 로고
    • Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy
    • Martinez TL, Kong L, Wang X, et al. Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy. J Neurosci 2012; 32(25): 8703-8715.
    • (2012) J Neurosci , vol.32 , Issue.25 , pp. 8703-8715
    • Martinez, T.L.1    Kong, L.2    Wang, X.3
  • 73
    • 18244407748 scopus 로고    scopus 로고
    • Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function
    • Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005; 57(5): 704-712.
    • (2005) Ann Neurol , vol.57 , Issue.5 , pp. 704-712
    • Swoboda, K.J.1    Prior, T.W.2    Scott, C.B.3
  • 74
    • 77950462859 scopus 로고    scopus 로고
    • To build a synapse: Signaling pathways in neuromuscular junction assembly
    • Wu H, Xiong WC, Mei L. To build a synapse: signaling pathways in neuromuscular junction assembly. Development 2010; 137(7): 1017-1033.
    • (2010) Development , vol.137 , Issue.7 , pp. 1017-1033
    • Wu, H.1    Xiong, W.C.2    Mei, L.3
  • 75
    • 0017598654 scopus 로고
    • The distribution of alpha-bungarotoxin binding sites of mammalian skeletal muscle developing in vivo
    • Bevan S, Steinbach JH. The distribution of alpha-bungarotoxin binding sites of mammalian skeletal muscle developing in vivo. J Physiol (Lond) 1977; 267(1): 195-213.
    • (1977) J Physiol (Lond) , vol.267 , Issue.1 , pp. 195-213
    • Bevan, S.1    Steinbach, J.H.2
  • 76
    • 0018747250 scopus 로고
    • Neural influence on acetylcholine receptor clusters in embryonic development of skeletal muscles
    • Braithwaite AW, Harris AJ. Neural influence on acetylcholine receptor clusters in embryonic development of skeletal muscles. Nature 1979; 279(5713): 549-551.
    • (1979) Nature , vol.279 , Issue.5713 , pp. 549-551
    • Braithwaite, A.W.1    Harris, A.J.2
  • 77
    • 0020683908 scopus 로고
    • Neural control of embryonic acetylcholine receptor and skeletal muscle
    • Creazzo TL, Sohal GS. Neural control of embryonic acetylcholine receptor and skeletal muscle. Cell Tissue Res 1983; 228(1): 1-12.
    • (1983) Cell Tissue Res , vol.228 , Issue.1 , pp. 1-12
    • Creazzo, T.L.1    Sohal, G.S.2
  • 78
    • 0020057580 scopus 로고
    • The effects of electrical inactivity and denervation on the distribution of acetylcholine receptors in developing rat muscle
    • Ziskind-Conhaim L, Bennett JI. The effects of electrical inactivity and denervation on the distribution of acetylcholine receptors in developing rat muscle. Dev Biol 1982; 90(1): 185-197.
    • (1982) Dev Biol , vol.90 , Issue.1 , pp. 185-197
    • Ziskind-Conhaim, L.1    Bennett, J.I.2
  • 79
    • 0035953645 scopus 로고    scopus 로고
    • Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse
    • Lin W, Burgess RW, Dominguez B, Pfaff SL, Sanes JR, Lee KF. Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature 2001; 410(6832): 1057-1064.
    • (2001) Nature , vol.410 , Issue.6832 , pp. 1057-1064
    • Lin, W.1    Burgess, R.W.2    Dominguez, B.3    Pfaff, S.L.4    Sanes, J.R.5    Lee, K.F.6
  • 80
    • 41149130101 scopus 로고    scopus 로고
    • Evidence for muscle-dependent neuromuscular synaptic site determination in mammals
    • Vock VM, Ponomareva ON, Rimer M. Evidence for muscle-dependent neuromuscular synaptic site determination in mammals. J Neurosci 2008; 28(12): 3123-3130.
    • (2008) J Neurosci , vol.28 , Issue.12 , pp. 3123-3130
    • Vock, V.M.1    Ponomareva, O.N.2    Rimer, M.3
  • 81
    • 0034983538 scopus 로고    scopus 로고
    • Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation
    • Yang X, Arber S, William C, et al. Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron 2001; 30(2): 399-410.
    • (2001) Neuron , vol.30 , Issue.2 , pp. 399-410
    • Yang, X.1    Arber, S.2    William, C.3
  • 82
    • 0035511932 scopus 로고    scopus 로고
    • Induction, assembly, maturation and maintenance of a postsynaptic apparatus
    • Sanes JR, Lichtman JW. Induction, assembly, maturation and maintenance of a postsynaptic apparatus. Nat Rev Neurosci 2001; 2(11): 791-805.
    • (2001) Nat Rev Neurosci , vol.2 , Issue.11 , pp. 791-805
    • Sanes, J.R.1    Lichtman, J.W.2
  • 83
    • 0345332575 scopus 로고    scopus 로고
    • Maturation of the acetylcholine receptor in skeletal muscle: Regulation of the AChR gamma-to-epsilon switch
    • Missias AC, Chu GC, Klocke BJ, Sanes JR, Merlie JP. Maturation of the acetylcholine receptor in skeletal muscle: regulation of the AChR gamma-to-epsilon switch. Dev Biol 1996; 179(1): 223-238.
    • (1996) Dev Biol , vol.179 , Issue.1 , pp. 223-238
    • Missias, A.C.1    Chu, G.C.2    Klocke, B.J.3    Sanes, J.R.4    Merlie, J.P.5
  • 84
    • 0019855776 scopus 로고
    • Developmental changes in acetylcholine receptor aggregates at rat skeletal neuromuscular junctions
    • Steinbach JH. Developmental changes in acetylcholine receptor aggregates at rat skeletal neuromuscular junctions. Dev Biol 1981; 84(2): 267-276.
    • (1981) Dev Biol , vol.84 , Issue.2 , pp. 267-276
    • Steinbach, J.H.1
  • 85
    • 0020369614 scopus 로고
    • Postnatal maturation of nerve-muscle junctions in hindlimb muscles of the mouse
    • Slater CR. Postnatal maturation of nerve-muscle junctions in hindlimb muscles of the mouse. Dev Biol 1982; 94(1): 11-22.
    • (1982) Dev Biol , vol.94 , Issue.1 , pp. 11-22
    • Slater, C.R.1
  • 86
    • 0029845233 scopus 로고    scopus 로고
    • Spatial relationships of utrophin, dystrophin, beta-dystroglycan and beta-spectrin to acetylcholine receptor clusters during postnatal maturation of the rat neuromuscular junction
    • Bewick GS, Young C, Slater CR. Spatial relationships of utrophin, dystrophin, beta-dystroglycan and beta-spectrin to acetylcholine receptor clusters during postnatal maturation of the rat neuromuscular junction. J Neurocytol 1996; 25(7): 367-379.
    • (1996) J Neurocytol , vol.25 , Issue.7 , pp. 367-379
    • Bewick, G.S.1    Young, C.2    Slater, C.R.3
  • 87
    • 0034658289 scopus 로고    scopus 로고
    • From plaque to pretzel: Fold formation and acetylcholine receptor loss at the developing neuromuscular junction
    • Marques MJ, Conchello JA, Lichtman JW. From plaque to pretzel: fold formation and acetylcholine receptor loss at the developing neuromuscular junction. J Neurosci 2000; 20(10): 3663-3675.
    • (2000) J Neurosci , vol.20 , Issue.10 , pp. 3663-3675
    • Marques, M.J.1    Conchello, J.A.2    Lichtman, J.W.3
  • 88
    • 41149113045 scopus 로고    scopus 로고
    • Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy
    • Murray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 2008; 17(7): 949-962.
    • (2008) Hum Mol Genet , vol.17 , Issue.7 , pp. 949-962
    • Murray, L.M.1    Comley, L.H.2    Thomson, D.3    Parkinson, N.4    Talbot, K.5    Gillingwater, T.H.6
  • 89
    • 83455213467 scopus 로고    scopus 로고
    • Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy
    • Ling KK, Gibbs RM, Feng Z, Ko CP. Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 2012; 21(1): 185-195.
    • (2012) Hum Mol Genet , vol.21 , Issue.1 , pp. 185-195
    • Ling, K.K.1    Gibbs, R.M.2    Feng, Z.3    Ko, C.P.4
  • 90
    • 77949909934 scopus 로고    scopus 로고
    • Review: Neuromuscular synaptic vulnerability in motor neurone disease: Amyotrophic lateral sclerosis and spinal muscular atrophy
    • Murray LM, Talbot K, Gillingwater TH. Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy. Neuropathol Appl Neurobiol 2010; 36(2): 133-156.
    • (2010) Neuropathol Appl Neurobiol , vol.36 , Issue.2 , pp. 133-156
    • Murray, L.M.1    Talbot, K.2    Gillingwater, T.H.3
  • 92
    • 71749091926 scopus 로고    scopus 로고
    • Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
    • Cifuentes-Diaz C, Nicole S, Velasco ME, et al. Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet 2002; 11(12): 1439-1447.
    • (2002) Hum Mol Genet , vol.11 , Issue.12 , pp. 1439-1447
    • Cifuentes-Diaz, C.1    Nicole, S.2    Velasco, M.E.3
  • 93
    • 0033710919 scopus 로고    scopus 로고
    • Tubulin and neurofilament proteins are transported differently in axons of chicken motoneurons
    • Yuan A, Mills RG, Chia CP, Bray JJ. Tubulin and neurofilament proteins are transported differently in axons of chicken motoneurons. Cell Mol Neurobiol 2000; 20(6): 623-632.
    • (2000) Cell Mol Neurobiol , vol.20 , Issue.6 , pp. 623-632
    • Yuan, A.1    Mills, R.G.2    Chia, C.P.3    Bray, J.J.4
  • 94
    • 0018906764 scopus 로고
    • Classification of spinal muscular atrophies
    • Pearn J. Classification of spinal muscular atrophies. Lancet 1980; 1(8174): 919-922.
    • (1980) Lancet , vol.1 , Issue.8174 , pp. 919-922
    • Pearn, J.1
  • 95
    • 38549124303 scopus 로고    scopus 로고
    • Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse
    • Biondi O, Grondard C, Lecolle S, et al. Exercise-induced activation of NMDA receptor promotes motor unit development and survival in a type 2 spinal muscular atrophy model mouse. J Neurosci 2008; 28(4): 953-962.
    • (2008) J Neurosci , vol.28 , Issue.4 , pp. 953-962
    • Biondi, O.1    Grondard, C.2    Lecolle, S.3
  • 96
  • 97
    • 80054712173 scopus 로고    scopus 로고
    • The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations
    • Dale JM, Shen H, Barry DM, et al. The spinal muscular atrophy mouse model, SMADelta7, displays altered axonal transport without global neurofilament alterations. Acta Neuropathol (Berl) 2011; 122(3): 331-341.
    • (2011) Acta Neuropathol (Berl) , vol.122 , Issue.3 , pp. 331-341
    • Dale, J.M.1    Shen, H.2    Barry, D.M.3
  • 98
    • 0021922503 scopus 로고
    • Identification of a transmembrane glycoprotein specific for secretory vesicles of neural and endocrine cells
    • Buckley K, Kelly RB. Identification of a transmembrane glycoprotein specific for secretory vesicles of neural and endocrine cells. J Cell Biol 1985; 100(4): 1284-1294.
    • (1985) J Cell Biol , vol.100 , Issue.4 , pp. 1284-1294
    • Buckley, K.1    Kelly, R.B.2
  • 99
    • 68949140579 scopus 로고    scopus 로고
    • Synaptotagmin has an essential function in synaptic vesicle positioning for synchronous release in addition to its role as a calcium sensor
    • Young SM, Jr., Neher E. Synaptotagmin has an essential function in synaptic vesicle positioning for synchronous release in addition to its role as a calcium sensor. Neuron 2009; 63(4): 482-496.
    • (2009) Neuron , vol.63 , Issue.4 , pp. 482-496
    • Young Jr., S.M.1    Neher, E.2
  • 101
    • 77955549610 scopus 로고    scopus 로고
    • SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro
    • Todd AG, Morse R, Shaw DJ, McGinley S, Stebbings H, Young PJ. SMN, Gemin2 and Gemin3 associate with beta-actin mRNA in the cytoplasm of neuronal cells in vitro. J Mol Biol 2010; 401(5): 681-689.
    • (2010) J Mol Biol , vol.401 , Issue.5 , pp. 681-689
    • Todd, A.G.1    Morse, R.2    Shaw, D.J.3    McGinley, S.4    Stebbings, H.5    Young, P.J.6
  • 102
    • 77949873838 scopus 로고    scopus 로고
    • SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules
    • Todd AG, Shaw DJ, Morse R, Stebbings H, Young PJ. SMN and the Gemin proteins form sub-complexes that localise to both stationary and dynamic neurite granules. Biochem Biophys Res Commun 2010; 394(1): 211-216.
    • (2010) Biochem Biophys Res Commun , vol.394 , Issue.1 , pp. 211-216
    • Todd, A.G.1    Shaw, D.J.2    Morse, R.3    Stebbings, H.4    Young, P.J.5
  • 103
    • 0034659515 scopus 로고    scopus 로고
    • Disruption of actin impedes transmitter release in snake motor terminals
    • Cole JC, Villa BR, Wilkinson RS. Disruption of actin impedes transmitter release in snake motor terminals. J Physiol (Lond) 2000; 525 (Pt 3): 579-586.
    • (2000) J Physiol (Lond) , vol.525 , Issue.PART 3 , pp. 579-586
    • Cole, J.C.1    Villa, B.R.2    Wilkinson, R.S.3
  • 104
    • 0037320809 scopus 로고    scopus 로고
    • Involvement of actin polymerization in vesicle recruitment at the calyx of Held synapse
    • Sakaba T, Neher E. Involvement of actin polymerization in vesicle recruitment at the calyx of Held synapse. J Neurosci 2003; 23(3): 837-846.
    • (2003) J Neurosci , vol.23 , Issue.3 , pp. 837-846
    • Sakaba, T.1    Neher, E.2
  • 105
    • 23244440196 scopus 로고    scopus 로고
    • The actin cytoskeleton: Integrating form and function at the synapse
    • Dillon C, Goda Y. The actin cytoskeleton: integrating form and function at the synapse. Annu Rev Neurosci 2005; 28: 25-55.
    • (2005) Annu Rev Neurosci , vol.28 , pp. 25-55
    • Dillon, C.1    Goda, Y.2
  • 106
    • 24144465824 scopus 로고    scopus 로고
    • Visualization of synaptic vesicle movement in intact synaptic boutons using fluorescence fluctuation spectroscopy
    • Jordan R, Lemke EA, Klingauf J. Visualization of synaptic vesicle movement in intact synaptic boutons using fluorescence fluctuation spectroscopy. Biophys J 2005; 89(3): 2091-2102.
    • (2005) Biophys J , vol.89 , Issue.3 , pp. 2091-2102
    • Jordan, R.1    Lemke, E.A.2    Klingauf, J.3
  • 107
    • 27744541130 scopus 로고    scopus 로고
    • Probing vesicle dynamics in single hippocampal synapses
    • Shtrahman M, Yeung C, Nauen DW, Bi GQ, Wu XL. Probing vesicle dynamics in single hippocampal synapses. Biophys J 2005; 89(5): 3615-3627.
    • (2005) Biophys J , vol.89 , Issue.5 , pp. 3615-3627
    • Shtrahman, M.1    Yeung, C.2    Nauen, D.W.3    Bi, G.Q.4    Wu, X.L.5
  • 108
    • 33344462841 scopus 로고    scopus 로고
    • Constitutive sharing of recycling synaptic vesicles between presynaptic boutons
    • Darcy KJ, Staras K, Collinson LM, Goda Y. Constitutive sharing of recycling synaptic vesicles between presynaptic boutons. Nat Neurosci 2006; 9(3): 315-321.
    • (2006) Nat Neurosci , vol.9 , Issue.3 , pp. 315-321
    • Darcy, K.J.1    Staras, K.2    Collinson, L.M.3    Goda, Y.4
  • 109
    • 29144463310 scopus 로고    scopus 로고
    • Spinal muscular atrophy: A deficiency in a ubiquitous protein; a motor neuron-specific disease
    • Monani UR. Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease. Neuron 2005; 48(6): 885-896.
    • (2005) Neuron , vol.48 , Issue.6 , pp. 885-896
    • Monani, U.R.1
  • 110
    • 34548178795 scopus 로고    scopus 로고
    • Modern management of spinal muscular atrophy
    • Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol 2007; 22(8): 974-878.
    • (2007) J Child Neurol , vol.22 , Issue.8 , pp. 974-978
    • Iannaccone, S.T.1
  • 111
    • 79955663939 scopus 로고    scopus 로고
    • Prospects for the gene therapy of spinal muscular atrophy
    • Passini MA, Cheng SH. Prospects for the gene therapy of spinal muscular atrophy. Trends Mol Med 2011; 17(5): 259-265.
    • (2011) Trends Mol Med , vol.17 , Issue.5 , pp. 259-265
    • Passini, M.A.1    Cheng, S.H.2
  • 112
    • 85047689522 scopus 로고    scopus 로고
    • Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy
    • Azzouz M, Le T, Ralph GS, et al. Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest 2004; 114(12): 1726-1731.
    • (2004) J Clin Invest , vol.114 , Issue.12 , pp. 1726-1731
    • Azzouz, M.1    Le, T.2    Ralph, G.S.3
  • 113
    • 0037261030 scopus 로고    scopus 로고
    • Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: Implications for spinal muscular atrophy therapy
    • DiDonato CJ, Parks RJ, Kothary R. Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. Hum Gene Ther 2003; 14(2): 179-188.
    • (2003) Hum Gene Ther , vol.14 , Issue.2 , pp. 179-188
    • Didonato, C.J.1    Parks, R.J.2    Kothary, R.3
  • 114
    • 77749249680 scopus 로고    scopus 로고
    • Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
    • 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(3): 271-274.
    • (2010) Nat Biotechnol , vol.28 , Issue.3 , pp. 271-274
    • Foust, K.D.1    Wang, X.2    McGovern, V.L.3
  • 115
    • 77951201412 scopus 로고    scopus 로고
    • 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
  • 116
    • 77955602597 scopus 로고    scopus 로고
    • Systemic delivery of scAAV9 expressing SMN prolongs survival in a model of spinal muscular atrophy
    • 35ra42
    • [116] 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
  • 117
    • 78751700314 scopus 로고    scopus 로고
    • 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
  • 118
    • 84855760635 scopus 로고    scopus 로고
    • Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy
    • Glascock JJ, Shababi M, Wetz MJ, Krogman MM, Lorson CL. Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of spinal muscular atrophy. Biochem Biophys Res Commun 2012; 417(1): 376-381.
    • (2012) Biochem Biophys Res Commun , vol.417 , Issue.1 , pp. 376-381
    • Glascock, J.J.1    Shababi, M.2    Wetz, M.J.3    Krogman, M.M.4    Lorson, C.L.5
  • 119
    • 84858026947 scopus 로고    scopus 로고
    • Decreasing Disease Severity in Symptomatic, Smn(-/-);SMN2(+/+), Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery
    • Glascock JJ, Osman EY, Wetz MJ, Krogman MM, Shababi M, Lorson CL. Decreasing Disease Severity in Symptomatic, Smn(-/-);SMN2(+/+), Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery. Hum Gene Ther 2012; 23(3): 330-335.
    • (2012) Hum Gene Ther , vol.23 , Issue.3 , pp. 330-335
    • Glascock, J.J.1    Osman, E.Y.2    Wetz, M.J.3    Krogman, M.M.4    Shababi, M.5    Lorson, C.L.6
  • 121
    • 0141506887 scopus 로고    scopus 로고
    • 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, 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; 12(19): 2481-2489.
    • (2003) Hum Mol Genet , vol.12 , Issue.19 , pp. 2481-2489
    • Brichta, L.1    Hofmann, Y.2    Hahnen, E.3
  • 122
    • 33745079980 scopus 로고    scopus 로고
    • 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, et al. In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem 2006; 98(1): 193-202.
    • (2006) J Neurochem , vol.98 , Issue.1 , pp. 193-202
    • Hahnen, E.1    Eyupoglu, I.Y.2    Brichta, L.3
  • 123
    • 70350749543 scopus 로고    scopus 로고
    • 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, et al. 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 2009; 18(19): 3645-3658.
    • (2009) Hum Mol Genet , vol.18 , Issue.19 , pp. 3645-3658
    • Garbes, L.1    Riessland, M.2    Holker, I.3
  • 124
    • 77952295831 scopus 로고    scopus 로고
    • SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
    • Riessland M, Ackermann B, Forster A, et al. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 2010; 19(8): 1492-1506.
    • (2010) Hum Mol Genet , vol.19 , Issue.8 , pp. 1492-1506
    • Riessland, M.1    Ackermann, B.2    Forster, A.3
  • 125
    • 80052227846 scopus 로고    scopus 로고
    • Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice
    • Kwon DY, Motley WW, Fischbeck KH, Burnett BG. Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice. Hum Mol Genet 2011; 20(18): 3667-3677.
    • (2011) Hum Mol Genet , vol.20 , Issue.18 , pp. 3667-3677
    • Kwon, D.Y.1    Motley, W.W.2    Fischbeck, K.H.3    Burnett, B.G.4
  • 126
    • 58049206781 scopus 로고    scopus 로고
    • Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition
    • Hauke J, Riessland M, Lunke S, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet 2009; 18(2): 304-317.
    • (2009) Hum Mol Genet , vol.18 , Issue.2 , pp. 304-317
    • Hauke, J.1    Riessland, M.2    Lunke, S.3
  • 127
    • 34047124905 scopus 로고    scopus 로고
    • Stat5 constitutive activation rescues defects in spinal muscular atrophy
    • Ting CH, Lin CW, Wen SL, Hsieh-Li HM, Li H. Stat5 constitutive activation rescues defects in spinal muscular atrophy. Hum Mol Genet 2007; 16(5): 499-514.
    • (2007) Hum Mol Genet , vol.16 , Issue.5 , pp. 499-514
    • Ting, C.H.1    Lin, C.W.2    Wen, S.L.3    Hsieh-Li, H.M.4    Li, H.5
  • 128
    • 79960985352 scopus 로고    scopus 로고
    • Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway
    • Farooq F, Molina FA, Hadwen J, et al. Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway. J Clin Invest 2011; 121(8): 3042-3050.
    • (2011) J Clin Invest , vol.121 , Issue.8 , pp. 3042-3050
    • Farooq, F.1    Molina, F.A.2    Hadwen, J.3
  • 129
    • 39149084412 scopus 로고    scopus 로고
    • Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy
    • Thurmond J, Butchbach ME, Palomo M, et al. Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem 2008; 51(3): 449-469.
    • (2008) J Med Chem , vol.51 , Issue.3 , pp. 449-469
    • Thurmond, J.1    Butchbach, M.E.2    Palomo, M.3
  • 130
    • 77949889553 scopus 로고    scopus 로고
    • 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, et al. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet 2010; 19(3): 454-467.
    • (2010) Hum Mol Genet , vol.19 , Issue.3 , pp. 454-467
    • Butchbach, M.E.1    Singh, J.2    Thorsteinsdottir, M.3
  • 131
    • 34247388843 scopus 로고    scopus 로고
    • Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
    • Hua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol 2007; 5(4): e73.
    • (2007) PLoS Biol , vol.5 , Issue.4
    • Hua, Y.1    Vickers, T.A.2    Baker, B.F.3    Bennett, C.F.4    Krainer, A.R.5
  • 132
    • 0035976992 scopus 로고    scopus 로고
    • 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
  • 133
    • 67650480122 scopus 로고    scopus 로고
    • A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
    • Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol 2009; 6(3): 341-350.
    • (2009) RNA Biol , vol.6 , Issue.3 , pp. 341-350
    • Singh, N.N.1    Shishimorova, M.2    Cao, L.C.3    Gangwani, L.4    Singh, R.N.5
  • 134
    • 41549168514 scopus 로고    scopus 로고
    • 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
  • 135
    • 67449135902 scopus 로고    scopus 로고
    • 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
  • 136
    • 77955894067 scopus 로고    scopus 로고
    • 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
  • 137
    • 79952348568 scopus 로고    scopus 로고
    • Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy
    • [137] Passini MA, Bu J, Richards AM, et al. Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med 2011; 3(72): 72ra18.
    • (2011) Sci Transl Med , vol.3 , Issue.72
    • Passini, M.A.1    Bu, J.2    Richards, A.M.3
  • 138
    • 84858256924 scopus 로고    scopus 로고
    • A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse
    • Porensky PN, Mitrpant C, McGovern VL, et al. A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse. Hum Mol Genet 2012; 21(7): 1625-1638.
    • (2012) Hum Mol Genet , vol.21 , Issue.7 , pp. 1625-1638
    • Porensky, P.N.1    Mitrpant, C.2    McGovern, V.L.3
  • 139
    • 0037388256 scopus 로고    scopus 로고
    • Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts
    • Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA 2003; 100(7): 4114-4119.
    • (2003) Proc Natl Acad Sci USA , vol.100 , Issue.7 , pp. 4114-4119
    • Skordis, L.A.1    Dunckley, M.G.2    Yue, B.3    Eperon, I.C.4    Muntoni, F.5
  • 140
    • 33745144314 scopus 로고    scopus 로고
    • Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector
    • Baughan T, Shababi M, Coady TH, Dickson AM, Tullis GE, Lorson CL. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol Ther 2006; 14(1): 54-62.
    • (2006) Mol Ther , vol.14 , Issue.1 , pp. 54-62
    • Baughan, T.1    Shababi, M.2    Coady, T.H.3    Dickson, A.M.4    Tullis, G.E.5    Lorson, C.L.6
  • 141
    • 28444490312 scopus 로고    scopus 로고
    • Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs
    • Madocsai C, Lim SR, Geib T, Lam BJ, Hertel KJ. Correction of SMN2 Pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol Ther 2005; 12(6): 1013-1022.
    • (2005) Mol Ther , vol.12 , Issue.6 , pp. 1013-1022
    • Madocsai, C.1    Lim, S.R.2    Geib, T.3    Lam, B.J.4    Hertel, K.J.5
  • 142
    • 34547128841 scopus 로고    scopus 로고
    • Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence
    • Marquis J, Meyer K, Angehrn L, Kampfer SS, Rothen-Rutishauser B, Schumperli D. Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Mol Ther 2007; 15(8): 1479-1486.
    • (2007) Mol Ther , vol.15 , Issue.8 , pp. 1479-1486
    • Marquis, J.1    Meyer, K.2    Angehrn, L.3    Kampfer, S.S.4    Rothen-Rutishauser, B.5    Schumperli, D.6
  • 143
    • 58749114204 scopus 로고    scopus 로고
    • Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation
    • Meyer K, Marquis J, Trub J, et al. Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 2009; 18(3): 546-555.
    • (2009) Hum Mol Genet , vol.18 , Issue.3 , pp. 546-555
    • Meyer, K.1    Marquis, J.2    Trub, J.3
  • 144
    • 64549161948 scopus 로고    scopus 로고
    • 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
  • 145
    • 57049112253 scopus 로고    scopus 로고
    • 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
  • 146
    • 34547117851 scopus 로고    scopus 로고
    • Restoration of SMN function: Delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing
    • Coady TH, Shababi M, Tullis GE, Lorson CL. Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol Ther 2007; 15(8): 1471-1478.
    • (2007) Mol Ther , vol.15 , Issue.8 , pp. 1471-1478
    • Coady, T.H.1    Shababi, M.2    Tullis, G.E.3    Lorson, C.L.4
  • 147
    • 74849129866 scopus 로고    scopus 로고
    • 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
  • 148
    • 84859158576 scopus 로고    scopus 로고
    • Optimization of SMN trans-splicing through the analysis of SMN introns
    • Shababi M, Lorson CL. Optimization of SMN trans-splicing through the analysis of SMN introns. J Mol Neurosci 2012; 46(3): 459-469.
    • (2012) J Mol Neurosci , vol.46 , Issue.3 , pp. 459-469
    • Shababi, M.1    Lorson, C.L.2
  • 149
    • 84856970439 scopus 로고    scopus 로고
    • Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy
    • Osman EY, Yen PF, Lorson CL. Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy. Mol Ther 2012; 20(1): 119-126.
    • (2012) Mol Ther , vol.20 , Issue.1 , pp. 119-126
    • Osman, E.Y.1    Yen, P.F.2    Lorson, C.L.3
  • 150
    • 38349090169 scopus 로고    scopus 로고
    • Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells
    • 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(1): 29-31.
    • (2008) J Med Genet , 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
  • 151
    • 78649636116 scopus 로고    scopus 로고
    • Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: Relevance for clinical trial design
    • Tiziano FD, Lomastro R, Pinto AM, et al. Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design. J Med Genet 2010; 47(12): 856-858.
    • (2010) J Med Genet , vol.47 , Issue.12 , pp. 856-858
    • Tiziano, F.D.1    Lomastro, R.2    Pinto, A.M.3
  • 152
    • 0037183535 scopus 로고    scopus 로고
    • Pilot trial of albuterol in spinal muscular atrophy
    • Kinali M, Mercuri E, Main M, et al. Pilot trial of albuterol in spinal muscular atrophy. Neurology 2002; 59(4): 609-610.
    • (2002) Neurology , vol.59 , Issue.4 , pp. 609-610
    • Kinali, M.1    Mercuri, E.2    Main, M.3
  • 153
    • 46749083736 scopus 로고    scopus 로고
    • Daily salbutamol in young patients with SMA type II
    • Pane M, Staccioli S, Messina S, et al. Daily salbutamol in young patients with SMA type II. Neuromuscul Disord 2008; 18(7): 536-540.
    • (2008) Neuromuscul Disord , vol.18 , Issue.7 , pp. 536-540
    • Pane, M.1    Staccioli, S.2    Messina, S.3
  • 154
    • 23244458683 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
    • Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH. Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells. Ann Neurol 2005; 58(2): 194-202.
    • (2005) Ann Neurol , 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
  • 155
    • 79951549405 scopus 로고    scopus 로고
    • Hydroxyurea enhances SMN2 gene expression through nitric oxide release
    • Xu C, Chen X, Grzeschik SM, Ganta M, Wang CH. Hydroxyurea enhances SMN2 gene expression through nitric oxide release. Neurogenetics 2011; 12(1): 19-24.
    • (2011) Neurogenetics , vol.12 , Issue.1 , pp. 19-24
    • Xu, C.1    Chen, X.2    Grzeschik, S.M.3    Ganta, M.4    Wang, C.H.5
  • 156
    • 40849083780 scopus 로고    scopus 로고
    • The effect of hydroxyurea in spinal muscular atrophy cells and patients
    • Liang WC, Yuo CY, Chang JG, et al. The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci 2008; 268(1-2): 87-94.
    • (2008) J Neurol Sci , vol.268 , Issue.1-2 , pp. 87-94
    • Liang, W.C.1    Yuo, C.Y.2    Chang, J.G.3
  • 157
    • 78650809695 scopus 로고    scopus 로고
    • Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy
    • Chen TH, Chang JG, Yang YH, et al. Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy. Neurology 2010; 75(24): 2190-2197.
    • (2010) Neurology , vol.75 , Issue.24 , pp. 2190-2197
    • Chen, T.H.1    Chang, J.G.2    Yang, Y.H.3
  • 158
    • 0035891862 scopus 로고    scopus 로고
    • 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.
    • (2001) Hum Mol Genet , vol.10 , Issue.24 , pp. 2841-2849
    • Andreassi, C.1    Jarecki, J.2    Zhou, J.3
  • 159
    • 77749301118 scopus 로고    scopus 로고
    • Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy
    • [159] Hastings ML, Berniac J, Liu YH, et al. Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med 2009; 1(5): 5ra12.
    • (2009) Sci Transl Med , vol.1 , Issue.5
    • Hastings, M.L.1    Berniac, J.2    Liu, Y.H.3
  • 160
    • 84858953071 scopus 로고    scopus 로고
    • Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay
    • Cherry JJ, Evans MC, Ni J, Cuny GD, Glicksman MA, Androphy EJ. Identification of novel compounds that increase SMN protein levels using an improved SMN2 reporter cell assay. J Biomol Screen 2012; 17(4): 481-495.
    • (2012) J Biomol Screen , vol.17 , Issue.4 , pp. 481-495
    • Cherry, J.J.1    Evans, M.C.2    Ni, J.3    Cuny, G.D.4    Glicksman, M.A.5    Androphy, E.J.6
  • 161
    • 18144431041 scopus 로고    scopus 로고
    • A non-sequence-specific requirement for SMN protein activity: The role of aminoglycosides in inducing elevated SMN protein levels
    • Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL. A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet 2005; 14(9): 1199-1210.
    • (2005) Hum Mol Genet , vol.14 , Issue.9 , pp. 1199-1210
    • Wolstencroft, E.C.1    Mattis, V.2    Bajer, A.A.3    Young, P.J.4    Lorson, C.L.5
  • 162
    • 63149153320 scopus 로고    scopus 로고
    • Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
    • Heier CR, DiDonato CJ. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet 2009; 18(7): 1310-1322.
    • (2009) Hum Mol Genet , vol.18 , Issue.7 , pp. 1310-1322
    • Heier, C.R.1    Didonato, C.J.2
  • 163
    • 71949095416 scopus 로고    scopus 로고
    • Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA
    • Mattis VB, Fosso MY, Chang CW, Lorson CL. Subcutaneous administration of TC007 reduces disease severity in an animal model of SMA. BMC Neurosci 2009; 10: 142.
    • (2009) BMC Neurosci , vol.10 , pp. 142
    • Mattis, V.B.1    Fosso, M.Y.2    Chang, C.W.3    Lorson, C.L.4
  • 164
    • 84865339799 scopus 로고    scopus 로고
    • Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy
    • Mattis VB, Tom Chang CW, Lorson CL. Analysis of a read-through promoting compound in a severe mouse model of spinal muscular atrophy. Neurosci Lett 2012; 525(1): 72-75.
    • (2012) Neurosci Lett , vol.525 , Issue.1 , pp. 72-75
    • Mattis, V.B.1    Chang, T.C.W.2    Lorson, C.L.3
  • 165
    • 31144465300 scopus 로고    scopus 로고
    • Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1
    • Corti S, Locatelli F, Papadimitriou D, et al. Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. Hum Mol Genet 2006; 15(2): 167-187.
    • (2006) Hum Mol Genet , vol.15 , Issue.2 , pp. 167-187
    • Corti, S.1    Locatelli, F.2    Papadimitriou, D.3
  • 166
    • 55849119559 scopus 로고    scopus 로고
    • Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy
    • Corti S, Nizzardo M, Nardini M, et al. Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest 2008; 118(10): 3316-3330.
    • (2008) J Clin Invest , vol.118 , Issue.10 , pp. 3316-3330
    • Corti, S.1    Nizzardo, M.2    Nardini, M.3
  • 167
    • 77249088647 scopus 로고    scopus 로고
    • Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice
    • Corti S, Nizzardo M, Nardini M, et al. Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice. Brain 2010; 133(Pt 2): 465-481.
    • (2010) Brain , vol.133 , Issue.PART 2 , pp. 465-481
    • Corti, S.1    Nizzardo, M.2    Nardini, M.3
  • 168
    • 80053575220 scopus 로고    scopus 로고
    • Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes
    • Hester ME, Murtha MJ, Song S, et al. Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes. Mol Ther 2011; 19(10): 1905-1912.
    • (2011) Mol Ther , vol.19 , Issue.10 , pp. 1905-1912
    • Hester, M.E.1    Murtha, M.J.2    Song, S.3
  • 169
    • 84857711556 scopus 로고    scopus 로고
    • Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy
    • Bowerman M, Murray LM, Boyer JG, Anderson CL, Kothary R. Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy. BMC Med 2012; 10(1): 24.
    • (2012) BMC Med , vol.10 , Issue.1 , pp. 24
    • Bowerman, M.1    Murray, L.M.2    Boyer, J.G.3    Anderson, C.L.4    Kothary, R.5
  • 170
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • Oprea GE, Krober S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008; 320(5875): 524-527.
    • (2008) Science , vol.320 , Issue.5875 , pp. 524-527
    • Oprea, G.E.1    Krober, S.2    McWhorter, M.L.3
  • 171
    • 84859529773 scopus 로고    scopus 로고
    • Survival motor neuron affects plastin 3 protein levels leading to motor defects
    • Hao le T, Wolman M, Granato M, Beattie CE. Survival motor neuron affects plastin 3 protein levels leading to motor defects. J Neurosci 2012; 32(15): 5074-5084.
    • (2012) J Neurosci , vol.32 , Issue.15 , pp. 5074-5084
    • Le Hao, T.1    Wolman, M.2    Granato, M.3    Beattie, C.E.4
  • 172
    • 0036895736 scopus 로고    scopus 로고
    • Loss of myostatin attenuates severity of muscular dystrophy in mdx mice
    • Wagner KR, McPherron AC, Winik N, Lee SJ. Loss of myostatin attenuates severity of muscular dystrophy in mdx mice. Ann Neurol 2002; 52(6): 832-836.
    • (2002) Ann Neurol , vol.52 , Issue.6 , pp. 832-836
    • Wagner, K.R.1    McPherron, A.C.2    Winik, N.3    Lee, S.J.4
  • 173
    • 61849182695 scopus 로고    scopus 로고
    • Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
    • Rose FF, Jr., Mattis VB, Rindt H, Lorson CL. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet 2009; 18(6): 997-1005.
    • (2009) Hum Mol Genet , vol.18 , Issue.6 , pp. 997-1005
    • Rose Jr., F.F.1    Mattis, V.B.2    Rindt, H.3    Lorson, C.L.4
  • 174
    • 68749088558 scopus 로고    scopus 로고
    • Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice
    • Sumner CJ, Wee CD, Warsing LC, et al. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet 2009; 18(17): 3145-3152.
    • (2009) Hum Mol Genet , vol.18 , Issue.17 , pp. 3145-3152
    • Sumner, C.J.1    Wee, C.D.2    Warsing, L.C.3
  • 175
    • 84858081392 scopus 로고    scopus 로고
    • Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy
    • Rindt H, Buckley DM, Vale SM, et al. Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy. Neuromuscul Disord 2012; 22(3): 277-285.
    • (2012) Neuromuscul Disord , vol.22 , Issue.3 , pp. 277-285
    • Rindt, H.1    Buckley, D.M.2    Vale, S.M.3
  • 176
    • 0037669048 scopus 로고    scopus 로고
    • Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy
    • Lesbordes JC, Cifuentes-Diaz C, Miroglio A, et al. Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Hum Mol Genet 2003; 12(11): 1233-1239.
    • (2003) Hum Mol Genet , vol.12 , Issue.11 , pp. 1233-1239
    • Lesbordes, J.C.1    Cifuentes-Diaz, C.2    Miroglio, A.3
  • 177
    • 0141592403 scopus 로고    scopus 로고
    • Riluzole attenuates spinal muscular atrophy disease progression in a mouse model
    • Haddad H, Cifuentes-Diaz C, Miroglio A, Roblot N, Joshi V, Melki J. Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. Muscle Nerve 2003; 28(4): 432-437.
    • (2003) Muscle Nerve , vol.28 , Issue.4 , pp. 432-437
    • Haddad, H.1    Cifuentes-Diaz, C.2    Miroglio, A.3    Roblot, N.4    Joshi, V.5    Melki, J.6
  • 178
    • 77957929588 scopus 로고    scopus 로고
    • SMA CARNIVAL trial part I: Double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy
    • Swoboda KJ, Scott CB, Crawford TO, et al. SMA CARNIVAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. PloS One 2010; 5(8): e12140.
    • (2010) PloS One , vol.5 , Issue.8
    • Swoboda, K.J.1    Scott, C.B.2    Crawford, T.O.3
  • 179
  • 180
    • 84869193359 scopus 로고    scopus 로고
    • Call in the backup
    • Dolgin E. Call in the backup. Nat Med 2012; 18(11): 1602-1606.
    • (2012) Nat Med , vol.18 , Issue.11 , pp. 1602-1606
    • Dolgin, E.1
  • 181
    • 0035282740 scopus 로고    scopus 로고
    • Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy
    • Jablonka S, Bandilla M, Wiese S, et al. Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Hum Mol Genet 2001; 10(5): 497-505.
    • (2001) Hum Mol Genet , vol.10 , Issue.5 , pp. 497-505
    • Jablonka, S.1    Bandilla, M.2    Wiese, S.3
  • 182
    • 0034639745 scopus 로고    scopus 로고
    • 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, 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 2000; 9(3): 341-346.
    • (2000) Hum Mol Genet , vol.9 , Issue.3 , pp. 341-346
    • Jablonka, S.1    Schrank, B.2    Kralewski, M.3    Rossoll, W.4    Sendtner, M.5


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