-
1
-
-
84866762773
-
Gene therapy for muscular dystrophy: Lessons learned and path forward
-
Mendell, JR, Rodino-Klapac, L, Sahenk, Z, Malik, V, Kaspar, BK, Walker, CM et al. (2012). Gene therapy for muscular dystrophy: lessons learned and path forward. Neurosci Lett 527: 90-99.
-
(2012)
Neurosci Lett
, vol.527
, pp. 90-99
-
-
Mendell, J.R.1
Rodino-Klapac, L.2
Sahenk, Z.3
Malik, V.4
Kaspar, B.K.5
Walker, C.M.6
-
2
-
-
76949084787
-
AAV-directed muscular dystrophy gene therapy
-
Tang, Y, Cummins, J, Huard, J and Wang, B (2010). AAV-directed muscular dystrophy gene therapy. Expert Opin Biol Ther 10: 395-408.
-
(2010)
Expert Opin Biol Ther
, vol.10
, pp. 395-408
-
-
Tang, Y.1
Cummins, J.2
Huard, J.3
Wang, B.4
-
3
-
-
0036723943
-
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
-
DOI 10.1086/342380
-
Hackman, P, Vihola, A, Haravuori, H, Marchand, S, Sarparanta, J, De Seze, J et al. (2002). Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 71: 492-500. (Pubitemid 34970121)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.3
, pp. 492-500
-
-
Hackman, P.1
Vihola, A.2
Haravuori, H.3
Marchand, S.4
Sarparanta, J.5
De Seze, J.6
Labeit, S.7
Witt, C.8
Peltonen, L.9
Richard, I.10
Udd, B.11
-
4
-
-
13844311060
-
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J
-
Udd, B, Vihola, A, Sarparanta, J, Richard, I and Hackman, P (2005). Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 64: 636-642. (Pubitemid 40261891)
-
(2005)
Neurology
, vol.64
, Issue.4
, pp. 636-642
-
-
Udd, B.1
Vihola, A.2
Sarparanta, J.3
Richard, I.4
Hackman, P.5
-
5
-
-
0026005315
-
Muscular dystrophy with separate clinical phenotypes in a large family
-
Udd, B, Kääriänen, H and Somer, H (1991). Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 14: 1050-1058.
-
(1991)
Muscle Nerve
, vol.14
, pp. 1050-1058
-
-
Udd, B.1
Kääriänen, H.2
Somer, H.3
-
6
-
-
0027278526
-
Tibial muscular dystrophy
-
Udd, B, Partanen, J, Halonen, P, Falck, B, Hakamies, L, Heikkilä, H et al. (1993). Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients. Arch Neurol 50: 604-608.
-
(1993)
Late Adult-onset Distal Myopathy in 66 Finnish Patients. Arch Neurol
, vol.50
, pp. 604-608
-
-
Udd, B.1
Partanen, J.2
Halonen, P.3
Falck, B.4
Hakamies, L.5
Heikkilä, H.6
-
7
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
DOI 10.1038/1682
-
Liu, J, Aoki, M, Illa, I, Wu, C, Fardeau, M, Angelini, C et al. (1998). Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20: 31-36. (Pubitemid 28410339)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
Fardeau, M.5
Angelini, C.6
Serrano, C.7
Andoni Urtizberea, J.8
Hentati, F.9
Hamida, M.B.10
Bohlega, S.11
Culper, E.J.12
Amato, A.A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.A.18
Schurr, E.19
Arahata, K.20
De Jong, P.J.21
Brown Jr., R.H.22
more..
-
8
-
-
17344363640
-
A gene related to caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
-
DOI 10.1038/1689
-
Bashir, R, Britton, S, Strachan, T, Keers, S, Vafiadaki, E, Lako, M et al. (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limbgirdle muscular dystrophy type 2B. Nat Genet 20: 37-42. (Pubitemid 28410340)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 37-42
-
-
Bashir, R.1
Britton, S.2
Strachan, T.3
Keers, S.4
Vafiadaki, E.5
Lako, M.6
Richard, I.7
Marchand, S.8
Bourg, N.9
Argov, Z.10
Sadeh, M.11
Mahjneh, I.12
Marconi, G.13
Passos-Bueno, M.R.14
Moreira, E.D.S.15
Zatz, M.16
Beckmann, J.S.17
Bushby, K.18
-
9
-
-
70749132676
-
RNA-targeting approaches for neuromuscular diseases
-
Le Roy, F, Charton, K, Lorson, CL and Richard, I (2009). RNA-targeting approaches for neuromuscular diseases. Trends Mol Med 15: 580-591.
-
(2009)
Trends Mol Med
, vol.15
, pp. 580-591
-
-
Le Roy, F.1
Charton, K.2
Lorson, C.L.3
Richard, I.4
-
11
-
-
77956509696
-
Exon exchange approach to repair Duchenne dystrophin transcripts
-
Lorain, S, Peccate, C, Le Hir, M and Garcia, L (2010). Exon exchange approach to repair Duchenne dystrophin transcripts. PLoS One 5: e10894.
-
(2010)
PLoS One
, vol.5
-
-
Lorain, S.1
Peccate, C.2
Le Hir, M.3
Garcia, L.4
-
12
-
-
84884913905
-
Dystrophin rescue by trans-splicing: A strategy for DMD genotypes not eligible for exon skipping approaches
-
Lorain, S, Peccate, C, Le Hir, M, Griffith, G, Philippi, S, Précigout, G et al. (2013). Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches. Nucleic Acids Res 41: 8391-8402.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 8391-8402
-
-
Lorain, S.1
Peccate, C.2
Le Hir, M.3
Griffith, G.4
Philippi, S.5
Précigout, G.6
-
13
-
-
84887930665
-
The design and optimization of RNA trans-splicing molecules for skin cancer therapy
-
Gruber, C, Koller, U, Murauer, EM, Hainzl, S, Hüttner, C, Kocher, T et al. (2013). The design and optimization of RNA trans-splicing molecules for skin cancer therapy. Mol Oncol 7: 1056-1068.
-
(2013)
Mol Oncol
, vol.7
, pp. 1056-1068
-
-
Gruber, C.1
Koller, U.2
Murauer, E.M.3
Hainzl, S.4
Hüttner, C.5
Kocher, T.6
-
14
-
-
0042388694
-
Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing
-
DOI 10.1038/nm900
-
Chao, H, Mansfield, SG, Bartel, RC, Hiriyanna, S, Mitchell, LG, Garcia-Blanco, MA et al. (2003). Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. Nat Med 9: 1015-1019. (Pubitemid 37025113)
-
(2003)
Nature Medicine
, vol.9
, Issue.8
, pp. 1015-1019
-
-
Chao, H.1
Mansfield, S.G.2
Bartel, R.C.3
Hiriyanna, S.4
Mitchell, L.G.5
Garcia-Blanco, M.A.6
Walsh, C.E.7
-
15
-
-
4043179784
-
Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency
-
DOI 10.1038/nm1086
-
Tahara, M, Pergolizzi, RG, Kobayashi, H, Krause, A, Luettich, K, Lesser, ML et al. (2004). Trans-splicing repair of CD40 ligand deficiency results in naturally regulated correction of a mouse model of hyper-IgM X-linked immunodeficiency. Nat Med 10: 835-841. (Pubitemid 39070857)
-
(2004)
Nature Medicine
, vol.10
, Issue.8
, pp. 835-841
-
-
Tahara, M.1
Pergolizzi, R.G.2
Kobayashi, H.3
Krause, A.4
Luettich, K.5
Lesser, M.L.6
Crystal, R.G.7
-
16
-
-
74849129866
-
Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy
-
Coady, TH and Lorson, CL (2010). Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy. J Neurosci 30: 126-130.
-
(2010)
J Neurosci
, vol.30
, pp. 126-130
-
-
Coady, T.H.1
Lorson, C.L.2
-
17
-
-
79951826869
-
Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy
-
Shababi, M, Glascock, J and Lorson, CL (2011). Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 22: 135-144.
-
(2011)
Hum Gene Ther
, vol.22
, pp. 135-144
-
-
Shababi, M.1
Glascock, J.2
Lorson, C.L.3
-
18
-
-
84878945320
-
Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing
-
Avale, ME, Rodríguez-Martín, T and Gallo, JM (2013). Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing. Hum Mol Genet 22: 2603-2611.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 2603-2611
-
-
Avale, M.E.1
Rodríguez-Martín, T.2
Gallo, J.M.3
-
19
-
-
78149275138
-
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies
-
Charton, K, Danièle, N, Vihola, A, Roudaut, C, Gicquel, E, Monjaret, F et al. (2010). Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Hum Mol Genet 19: 4608-4624.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4608-4624
-
-
Charton, K.1
Danièle, N.2
Vihola, A.3
Roudaut, C.4
Gicquel, E.5
Monjaret, F.6
-
20
-
-
0024297354
-
Multiple sequence alignment with hierarchical clustering
-
Corpet, F (1988). Multiple sequence alignment with hierarchical clustering. Nucleic Acids Res 16: 10881-10890.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 10881-10890
-
-
Corpet, F.1
-
21
-
-
56749164864
-
Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines
-
Castle, JC, Zhang, C, Shah, JK, Kulkarni, AV, Kalsotra, A, Cooper, TA et al. (2008). Expression of 24,426 human alternative splicing events and predicted cis regulation in 48 tissues and cell lines. Nat Genet 40: 1416-1425.
-
(2008)
Nat Genet
, vol.40
, pp. 1416-1425
-
-
Castle, J.C.1
Zhang, C.2
Shah, J.K.3
Kulkarni, A.V.4
Kalsotra, A.5
Cooper, T.A.6
-
22
-
-
63649133449
-
Trans-splicing into highly abundant albumin transcripts for production of therapeutic proteins in vivo
-
Wang, J, Mansfield, SG, Cote, CA, Jiang, PD, Weng, K, Amar, MJ et al. (2009). Trans-splicing into highly abundant albumin transcripts for production of therapeutic proteins in vivo. Mol Ther 17: 343-351.
-
(2009)
Mol Ther
, vol.17
, pp. 343-351
-
-
Wang, J.1
Mansfield, S.G.2
Cote, C.A.3
Jiang, P.D.4
Weng, K.5
Amar, M.J.6
-
23
-
-
84861697778
-
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy
-
Lostal, W, Bartoli, M, Roudaut, C, Bourg, N, Krahn, M, Pryadkina, M et al. (2012). Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS One 7: e38036.
-
(2012)
PLoS One
, vol.7
-
-
Lostal, W.1
Bartoli, M.2
Roudaut, C.3
Bourg, N.4
Krahn, M.5
Pryadkina, M.6
-
24
-
-
0034889309
-
Messenger RNA repair and restoration of protein function by spliceosome-mediated RNa trans-splicing
-
DOI 10.1006/mthe.2001.0426
-
Puttaraju, M, DiPasquale, J, Baker, CC, Mitchell, LG and Garcia-Blanco, MA (2001). Messenger RNA repair and restoration of protein function by spliceosome-mediated RNA trans-splicing. Mol Ther 4: 105-114. (Pubitemid 32776501)
-
(2001)
Molecular Therapy
, vol.4
, Issue.2
, pp. 105-114
-
-
Puttaraju, M.1
DiPasquale, J.2
Baker, C.C.3
Mitchell, L.G.4
Garcia-Blanco, M.A.5
-
25
-
-
46749148868
-
A generalizable strategy for imaging pre-mRNA levels in living subjects using spliceosome-mediated RNA trans-splicing
-
DOI 10.2967/jnumed.107.047662
-
Walls, ZF, Puttaraju, M, Temple, GF and Gambhir, SS (2008). A generalizable strategy for imaging pre-mRNA levels in living subjects using spliceosome-mediated RNA transsplicing. J Nucl Med 49: 1146-1154. (Pubitemid 351948024)
-
(2008)
Journal of Nuclear Medicine
, vol.49
, Issue.7
, pp. 1146-1154
-
-
Walls, Z.F.1
Puttaraju, M.2
Temple, G.F.3
Gambhir, S.S.4
-
26
-
-
0029919189
-
Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms
-
DOI 10.1006/jmbi.1996.0108
-
Kolmerer, B, Olivieri, N, Witt, CC, Herrmann, BG and Labeit, S (1996). Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms. J Mol Biol 256: 556-563. (Pubitemid 26107205)
-
(1996)
Journal of Molecular Biology
, vol.256
, Issue.3
, pp. 556-563
-
-
Kolmerer, B.1
Olivieri, N.2
Witt, C.C.3
Herrmann, B.G.4
Labeit, S.5
-
27
-
-
0033066691
-
Synthetic muscle promoters: Activities exceeding naturally occurring regulatory sequences
-
DOI 10.1038/6981
-
Li, X, Eastman, EM, Schwartz, RJ and Draghia-Akli, R (1999). Synthetic muscle promoters: activities exceeding naturally occurring regulatory sequences. Nat Biotechnol 17: 241-245. (Pubitemid 29122631)
-
(1999)
Nature Biotechnology
, vol.17
, Issue.3
, pp. 241-245
-
-
Li, X.1
Eastman, E.M.2
Schwartz, R.J.3
Draghia-Akli, R.4
-
28
-
-
27344453374
-
Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: Implications for tauopathies
-
DOI 10.1073/pnas.0503150102
-
Rodriguez-Martin, T, Garcia-Blanco, MA, Mansfield, SG, Grover, AC, Hutton, M, Yu, Q et al. (2005). Reprogramming of tau alternative splicing by spliceosomemediated RNA trans-splicing: implications for tauopathies. Proc Natl Acad Sci USA 102: 15659-15664. (Pubitemid 41528112)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.43
, pp. 15659-15664
-
-
Rodriguez-Martin, T.1
Garcia-Blanco, M.A.2
Mansfield, S.G.3
Grower, A.C.4
Hutton, M.5
Yu, Q.6
Zhou, J.7
Anderten, B.H.8
Gallo, J.-M.9
-
29
-
-
84859885816
-
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
-
Trapnell, C, Roberts, A, Goff, L, Pertea, G, Kim, D, Kelley, DR et al. (2012). Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks. Nat Protoc 7: 562-578.
-
(2012)
Nat Protoc
, vol.7
, pp. 562-578
-
-
Trapnell, C.1
Roberts, A.2
Goff, L.3
Pertea, G.4
Kim, D.5
Kelley, D.R.6
-
30
-
-
65449136284
-
TopHat: Discovering splice junctions with RNA-Seq
-
Trapnell, C, Pachter, L and Salzberg, SL (2009). TopHat: discovering splice junctions with RNA-Seq. Bioinformatics 25: 1105-1111.
-
(2009)
Bioinformatics
, vol.25
, pp. 1105-1111
-
-
Trapnell, C.1
Pachter, L.2
Salzberg, S.L.3
-
31
-
-
77952123055
-
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
-
Trapnell, C, Williams, BA, Pertea, G, Mortazavi, A, Kwan, G, van Baren, MJ et al. (2010). Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation. Nat Biotechnol 28: 511-515.
-
(2010)
Nat Biotechnol
, vol.28
, pp. 511-515
-
-
Trapnell, C.1
Williams, B.A.2
Pertea, G.3
Mortazavi, A.4
Kwan, G.5
Van Baren, M.J.6
-
32
-
-
80051507403
-
TopHat-Fusion: An algorithm for discovery of novel fusion transcripts
-
Kim, D and Salzberg, SL (2011). TopHat-Fusion: an algorithm for discovery of novel fusion transcripts. Genome Biol 12: R72.
-
(2011)
Genome Biol
, vol.12
-
-
Kim, D.1
Salzberg, S.L.2
|