-
1
-
-
0003740896
-
-
3rd ed. London, UK, New York, NY: W. B. Saunders.
-
Harper PS, Brook JD, Newman E., Myotonic dystrophy. 3rd ed. London, UK, New York, NY: W. B. Saunders, 2001.
-
(2001)
Myotonic Dystrophy
-
-
Harper, P.S.1
Brook, J.D.2
Newman, E.3
-
2
-
-
0030841672
-
Expansion of a CUG trinucleotide repeat in the 3 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
-
Davis BM, McCurrach ME, Taneja KL, et al. Expansion of a CUG trinucleotide repeat in the 3 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 1997; 94: 7388-7393.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 7388-7393
-
-
Davis, B.M.1
McCurrach, M.E.2
Taneja, K.L.3
-
3
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG) (n) expansions associated with myotonic dystrophy
-
Miller JW, Urbinati CR, Teng-Umnuay P, et al. Recruitment of human muscleblind proteins to (CUG) (n) expansions associated with myotonic dystrophy. EMBO J 2000; 19: 4439-4448.
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
-
4
-
-
34948834723
-
Increased Steady-State Levels of CUGBP1 in Myotonic Dystrophy 1 Are Due to PKC-Mediated Hyperphosphorylation
-
DOI 10.1016/j.molcel.2007.07.027, PII S1097276507005448
-
Kuyumcu-Martinez NM, Wang GS, Cooper TA., Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 2007; 28: 68-78. (Pubitemid 47531966)
-
(2007)
Molecular Cell
, vol.28
, Issue.1
, pp. 68-78
-
-
Kuyumcu-Martinez, N.M.1
Wang, G.-S.2
Cooper, T.A.3
-
5
-
-
58149492467
-
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart
-
Kalsotra A, Xiao X, Ward AJ, et al. A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A 2008; 105: 20333-20338.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 20333-20338
-
-
Kalsotra, A.1
Xiao, X.2
Ward, A.J.3
-
6
-
-
0035146628
-
The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
-
DOI 10.1128/MCB.21.4.1285-1296.2001
-
Ladd AN, Charlet N, Cooper TA., The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 2001; 21: 1285-1296. (Pubitemid 32114976)
-
(2001)
Molecular and Cellular Biology
, vol.21
, Issue.4
, pp. 1285-1296
-
-
Ladd, A.N.1
Charlet-B, N.2
Copper, T.A.3
-
7
-
-
20444443019
-
Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development
-
DOI 10.1002/dvdy.20382
-
Ladd AN, Stenberg MG, Swanson MS, Cooper TA., Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn 2005; 233: 783-793. (Pubitemid 40853454)
-
(2005)
Developmental Dynamics
, vol.233
, Issue.3
, pp. 783-793
-
-
Ladd, A.N.1
Stenberg, M.G.2
Swanson, M.S.3
Cooper, T.A.4
-
8
-
-
33745248133
-
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
-
DOI 10.1093/hmg/ddl132
-
Lin X, Miller JW, Mankodi A, et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 2006; 15: 2087-2097. (Pubitemid 43923398)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.13
, pp. 2087-2097
-
-
Lin, X.1
Miller, J.W.2
Mankodi, A.3
Kanadia, R.N.4
Yuan, Y.5
Moxley, R.T.6
Swanson, M.S.7
Thornton, C.A.8
-
10
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
DOI 10.1038/nature04422, PII N04422
-
Gabellini D, D'Antona G, Moggio M, et al. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 2006; 439: 973-977. (Pubitemid 43292415)
-
(2006)
Nature
, vol.439
, Issue.7079
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
Adami, R.6
Angeletti, B.7
Ciscato, P.8
Pellegrino, M.A.9
Bottinelli, R.10
Green, M.R.11
Tupler, R.12
-
11
-
-
33847234593
-
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy
-
Osborne RJ, Welle S, Venance SL, et al. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Neurology 2007; 68: 569-577.
-
(2007)
Neurology
, vol.68
, pp. 569-577
-
-
Osborne, R.J.1
Welle, S.2
Venance, S.L.3
-
12
-
-
70450209513
-
Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice
-
Yu Z, Wang AM, Robins DM, Lieberman AP., Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice. Dis Model Mech 2009; 2: 500-507.
-
(2009)
Dis Model Mech
, vol.2
, pp. 500-507
-
-
Yu, Z.1
Wang, A.M.2
Robins, D.M.3
Lieberman, A.P.4
-
13
-
-
74249094999
-
Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy
-
Baumer D, Lee S, Nicholson G, et al. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet 2009; 5: e1000773.
-
(2009)
PLoS Genet
, vol.5
-
-
Baumer, D.1
Lee, S.2
Nicholson, G.3
-
14
-
-
43049168361
-
SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
-
DOI 10.1016/j.cell.2008.03.031, PII S0092867408004601
-
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: 585-600. (Pubitemid 351636302)
-
(2008)
Cell
, vol.133
, Issue.4
, pp. 585-600
-
-
Zhang, Z.1
Lotti, F.2
Dittmar, K.3
Younis, I.4
Wan, L.5
Kasim, M.6
Dreyfuss, G.7
-
15
-
-
40649083064
-
Expanded CTG repeats within the DMPK 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy
-
DOI 10.1073/pnas.0708519105
-
Orengo JP, Chambon P, Metzger D, et al. Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proc Natl Acad Sci U S A 2008; 105: 2646-2651. (Pubitemid 351520567)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.7
, pp. 2646-2651
-
-
Orengo, J.P.1
Chambon, P.2
Metzger, D.3
Mosier, D.R.4
Snipes, G.J.5
Cooper, T.A.6
-
16
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, Urbinati CR, Yuan QP, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001; 10: 2165-2170. (Pubitemid 32998828)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.19
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.-P.3
Moxley, R.T.4
Sansone, V.5
Krym, M.6
Henderson, D.7
Schalling, M.8
Swanson, M.S.9
Thornton, C.A.10
-
17
-
-
33744781523
-
Expression of slow myosin heavy chain during muscle regeneration is not always dependent on muscle innervation and calcineurin phosphatase activity
-
DOI 10.1152/ajpregu.00486.2005
-
Launay T, Noirez P, Butler-Browne G, Agbulut O., Expression of slow myosin heavy chain during muscle regeneration is not always dependent on muscle innervation and calcineurin phosphatase activity. Am J Physiol Regul Integr Comp Physiol 2006; 290: R1508-R1514. (Pubitemid 43830811)
-
(2006)
American Journal of Physiology - Regulatory Integrative and Comparative Physiology
, vol.290
, Issue.6
-
-
Launay, T.1
Noirez, P.2
Butler-Browne, G.3
Agbulut, O.4
-
18
-
-
0029024847
-
Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
-
Sunada Y, Bernier SM, Utani A, et al. Identification of a novel mutant transcript of laminin alpha 2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice. Hum Mol Genet 1995; 4: 1055-1061.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1055-1061
-
-
Sunada, Y.1
Bernier, S.M.2
Utani, A.3
-
19
-
-
0028135436
-
Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene
-
DOI 10.1038/ng1194-297
-
Xu H, Wu XR, Wewer UM, Engvall E., Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nat Genet 1994; 8: 297-302. (Pubitemid 24338744)
-
(1994)
Nature Genetics
, vol.8
, Issue.3
, pp. 297-302
-
-
Xu, H.1
Wu, X.-R.2
Wewer, U.M.3
Engval, E.4
-
20
-
-
0033963757
-
Disruption of the β-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
-
Durbeej M, Cohn RD, Hrstka RF, et al. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000; 5: 141-151. (Pubitemid 30105443)
-
(2000)
Molecular Cell
, vol.5
, Issue.1
, pp. 141-151
-
-
Durbeej, M.1
Conn, R.D.2
Hrstka, R.F.3
Moore, S.A.4
Allamand, V.5
Davidson, B.L.6
Williamson, R.A.7
Campbell, K.P.8
-
21
-
-
0345731966
-
X chromosome-linked muscular dystrophy (mdx) in the mouse
-
Bulfield G, Siller WG, Wight PA, Moore KJ., X chromosome-linked muscular dystrophy (mdx) in the mouse. Proc Natl Acad Sci U S A 1984; 81: 1189-1192. (Pubitemid 14171480)
-
(1984)
Proceedings of the National Academy of Sciences of the United States of America
, vol.81
, Issue.4
, pp. 1189-1192
-
-
Bulfield, G.1
Siller, W.G.2
Wight, P.A.L.3
Moore, K.J.4
-
22
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH Jr, Kunkel LM., Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown, Jr.R.H.2
Kunkel, L.M.3
-
23
-
-
0024353559
-
The molecular basis of muscular dystrophy in the mdx mouse: A point mutation
-
Sicinski P, Geng Y, Ryder-Cook AS, et al. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 1989; 244: 1578-1580. (Pubitemid 19189735)
-
(1989)
Science
, vol.244
, Issue.4912
, pp. 1578-1580
-
-
Sicinski, P.1
Geng, Y.2
Ryder-Cook, A.S.3
Barnard, E.A.4
Darlison, M.G.5
Barnard, P.J.6
-
24
-
-
0347989458
-
Cellular and Molecular Regulation of Muscle Regeneration
-
DOI 10.1152/physrev.00019.2003
-
Charge SB, Rudnicki MA., Cellular and molecular regulation of muscle regeneration. Physiol Rev 2004; 84: 209-238. (Pubitemid 38049880)
-
(2004)
Physiological Reviews
, vol.84
, Issue.1
, pp. 209-238
-
-
Charge, S.B.P.1
Rudnicki, M.A.2
-
25
-
-
1042264058
-
2 and the regeneration of skeletal muscles
-
DOI 10.1016/j.toxicon.2003.11.011
-
Harris JB., Myotoxic phospholipases A2 and the regeneration of skeletal muscles. Toxicon 2003; 42: 933-945. (Pubitemid 38201493)
-
(2003)
Toxicon
, vol.42
, Issue.8
, pp. 933-945
-
-
Harris, J.B.1
-
26
-
-
33750464096
-
Notexin causes greater myotoxic damage and slower functional repair in mouse skeletal muscles than bupivacaine
-
DOI 10.1002/mus.20616
-
Plant DR, Colarossi FE, Lynch GS., Notexin causes greater myotoxic damage and slower functional repair in mouse skeletal muscles than bupivacaine. Muscle Nerve 2006; 34: 577-585. (Pubitemid 44656080)
-
(2006)
Muscle and Nerve
, vol.34
, Issue.5
, pp. 577-585
-
-
Plant, D.R.1
Colarossi, F.E.2
Lynch, G.S.3
-
27
-
-
42449133852
-
Alternative splicing in disease
-
Orengo JP, Cooper TA., Alternative splicing in disease. Adv Exp Med Biol 2007; 623: 212-223.
-
(2007)
Adv Exp Med Biol
, vol.623
, pp. 212-223
-
-
Orengo, J.P.1
Cooper, T.A.2
-
28
-
-
77956108781
-
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1
-
Ward AJ, Rimer M, Killian JM, et al. CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. Hum Mol Genet 2010; 19: 3614-3622.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3614-3622
-
-
Ward, A.J.1
Rimer, M.2
Killian, J.M.3
-
29
-
-
0346243804
-
A Muscleblind Knockout Model for Myotonic Dystrophy
-
DOI 10.1126/science.1088583
-
Kanadia RN, Johnstone KA, Mankodi A, et al. A muscleblind knockout model for myotonic dystrophy. Science 2003; 302: 1978-1980. (Pubitemid 37523508)
-
(2003)
Science
, vol.302
, Issue.5652
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
30
-
-
0036347927
-
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
-
DOI 10.1016/S1097-2765(02)00572-5
-
Charlet BN, Savkur RS, Singh G, et al. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002; 10: 45-53. (Pubitemid 34879148)
-
(2002)
Molecular Cell
, vol.10
, Issue.1
, pp. 45-53
-
-
Charlet, -B.N.1
Savkur, R.S.2
Singh, G.3
Philips, A.V.4
Grice, E.A.5
Cooper, T.A.6
-
31
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
DOI 10.1016/S1097-2765(02)00563-4
-
Mankodi A, Takahashi MP, Jiang H, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002; 10: 35-44. (Pubitemid 34879147)
-
(2002)
Molecular Cell
, vol.10
, Issue.1
, pp. 35-44
-
-
Mankodi, A.1
Takahashi, M.P.2
Jiang, H.3
Beck, C.L.4
Bowers, W.J.5
Moxley, R.T.6
Cannon, S.C.7
Thornton, C.A.8
-
32
-
-
36849035575
-
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy
-
DOI 10.1172/JCI33355
-
Wheeler TM, Lueck JD, Swanson MS, et al. Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 2007; 117: 3952-3957. (Pubitemid 350224104)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.12
, pp. 3952-3957
-
-
Wheeler, T.M.1
Lueck, J.D.2
Swanson, M.S.3
Dirksen, R.T.4
Thornton, C.A.5
-
33
-
-
12844278103
-
Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment
-
DOI 10.1128/MCB.25.3.879-887.2005
-
Faustino NA, Cooper TA., Identification of putative new splicing targets for ETR-3 using sequences identified by systematic evolution of ligands by exponential enrichment. Mol Cell Biol 2005; 25: 879-887. (Pubitemid 40165797)
-
(2005)
Molecular and Cellular Biology
, vol.25
, Issue.3
, pp. 879-887
-
-
Faustino, N.A.1
Cooper, T.A.2
-
34
-
-
18544385166
-
Temporally controlled targeted somatic mutagenesis in skeletal muscles of the mouse
-
DOI 10.1002/gene.20107
-
Schuler M, Ali F, Metzger E, et al. Temporally controlled targeted somatic mutagenesis in skeletal muscles of the mouse. Genesis 2005; 41: 165-170. (Pubitemid 40656687)
-
(2005)
Genesis
, vol.41
, Issue.4
, pp. 165-170
-
-
Schuler, M.1
Ali, F.2
Metzger, E.3
Chambon, P.4
Metzger, D.5
-
35
-
-
33744980908
-
Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions
-
DOI 10.1016/j.biochi.2005.10.011, PII S0300908405002634
-
Barreau C, Paillard L, Mereau A, Osborne HB., Mammalian CELF/Bruno-like RNA-binding proteins: molecular characteristics and biological functions. Biochimie 2006; 88: 515-525. (Pubitemid 43867902)
-
(2006)
Biochimie
, vol.88
, Issue.5
, pp. 515-525
-
-
Barreau, C.1
Paillard, L.2
Mereau, A.3
Osborne, H.B.4
-
36
-
-
4444361092
-
Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events
-
DOI 10.1242/jcs.01194
-
Ladd AN, Cooper TA., Multiple domains control the subcellular localization and activity of ETR-3, a regulator of nuclear and cytoplasmic RNA processing events. J Cell Sci 2004; 117: 3519-3529. (Pubitemid 39206392)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.16
, pp. 3519-3529
-
-
Ladd, A.N.1
Cooper, T.A.2
-
37
-
-
70450203364
-
Pathogenic mechanisms of myotonic dystrophy
-
Lee JE, Cooper TA., Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 2009; 37: 1281-1286.
-
(2009)
Biochem Soc Trans
, vol.37
, pp. 1281-1286
-
-
Lee, J.E.1
Cooper, T.A.2
-
38
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi A, Logigian E, Callahan L, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000; 289: 1769-1773.
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
-
39
-
-
0034782974
-
Defective satellite cells in congenital myotonic dystrophy
-
Furling D, Coiffier L, Mouly V, et al. Defective satellite cells in congenital myotonic dystrophy. Hum Mol Genet 2001; 10: 2079-2087. (Pubitemid 32998820)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.19
, pp. 2079-2087
-
-
Furling, D.1
Coiffier, L.2
Mouly, V.3
Barbet, J.P.4
Lacau St. Guily, J.5
Taneja, K.6
Gourdon, G.7
Junien, C.8
Butler-Browne, G.S.9
-
40
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
DOI 10.1038/ng704
-
Savkur RS, Philips AV, Cooper TA., Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001; 29: 40-47. (Pubitemid 32801806)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
41
-
-
70449724660
-
Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1
-
Thornell LE, Lindstom M, Renault V, et al. Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1. Neuropathol Appl Neurobiol 2009; 35: 603-613.
-
(2009)
Neuropathol Appl Neurobiol
, vol.35
, pp. 603-613
-
-
Thornell, L.E.1
Lindstom, M.2
Renault, V.3
-
42
-
-
34948872683
-
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy
-
DOI 10.1172/JCI32308
-
Wang GS, Kearney DL, De Biasi M, et al. Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. J Clin Invest 2007; 117: 2802-2811. (Pubitemid 47529611)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.10
, pp. 2802-2811
-
-
Wang, G.-S.1
Kearney, D.L.2
De Biasi, M.3
Taffet, G.4
Cooper, T.A.5
|