-
1
-
-
0022444372
-
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
-
Kunkel L.M., et al. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986, 322:73-77.
-
(1986)
Nature
, vol.322
, pp. 73-77
-
-
Kunkel, L.M.1
-
2
-
-
0024458234
-
Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene
-
Monaco A.P. Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene. Trends Biochem. Sci. 1989, 14:412-415.
-
(1989)
Trends Biochem. Sci.
, vol.14
, pp. 412-415
-
-
Monaco, A.P.1
-
3
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco A.P., et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
-
4
-
-
0024527173
-
Clinical and molecular studies in Duchenne muscular dystrophy
-
Emery A.E. Clinical and molecular studies in Duchenne muscular dystrophy. Prog. Clin. Biol. Res. 1989, 306:15-28.
-
(1989)
Prog. Clin. Biol. Res.
, vol.306
, pp. 15-28
-
-
Emery, A.E.1
-
5
-
-
0037160782
-
The muscular dystrophies
-
Emery A.E. The muscular dystrophies. Lancet 2002, 359:687-695.
-
(2002)
Lancet
, vol.359
, pp. 687-695
-
-
Emery, A.E.1
-
6
-
-
27644488152
-
The multidisciplinary management of Duchenne muscular dystrophy
-
Bushby K., et al. The multidisciplinary management of Duchenne muscular dystrophy. Curr. Paediatr. 2005, 15:292-300.
-
(2005)
Curr. Paediatr.
, vol.15
, pp. 292-300
-
-
Bushby, K.1
-
7
-
-
72149108443
-
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
-
Bushby K., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010, 9:77-93.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 77-93
-
-
Bushby, K.1
-
8
-
-
4344588135
-
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands
-
Bushby K., et al. Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul. Disord. 2004, 14:526-534.
-
(2004)
Neuromuscul. Disord.
, vol.14
, pp. 526-534
-
-
Bushby, K.1
-
9
-
-
0017090370
-
Clinical studies in benign (Becker type) X-linked muscular dystrophy
-
Emery A.E., Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin. Genet. 1976, 10:189-201.
-
(1976)
Clin. Genet.
, vol.10
, pp. 189-201
-
-
Emery, A.E.1
Skinner, R.2
-
10
-
-
0030033649
-
Dystrophinopathies: clarification and complication
-
Samaha F.J., Quinlan J.G. Dystrophinopathies: clarification and complication. J. Child Neurol. 1996, 11:13-20.
-
(1996)
J. Child Neurol.
, vol.11
, pp. 13-20
-
-
Samaha, F.J.1
Quinlan, J.G.2
-
11
-
-
33847747087
-
Deletion of exon 16 of the dystrophin gene is not associated with disease
-
Schwartz M., et al. Deletion of exon 16 of the dystrophin gene is not associated with disease. Hum. Mutat. 2007, 28:205.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 205
-
-
Schwartz, M.1
-
12
-
-
83755220617
-
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
-
Anthony K., et al. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 2011, 134:3547-3559.
-
(2011)
Brain
, vol.134
, pp. 3547-3559
-
-
Anthony, K.1
-
13
-
-
84902209331
-
Dystrophin levels and clinical severity in Becker muscular dystrophy patients
-
van den Bergen J.C., et al. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J. Neurol. Neurosurg. Psychiatry 2014, 85:747-753.
-
(2014)
J. Neurol. Neurosurg. Psychiatry
, vol.85
, pp. 747-753
-
-
van den Bergen, J.C.1
-
14
-
-
84866988656
-
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database
-
Nicolas A., et al. Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database. Orphanet J. Rare Dis. 2012, 7:45.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. 45
-
-
Nicolas, A.1
-
15
-
-
68549104436
-
Mutation-specific database and bioinformatics resource for DMD
-
Flanigan K.M. Mutation-specific database and bioinformatics resource for DMD. Hum. Mutat. 2009, 30:v.
-
(2009)
Hum. Mutat.
, vol.30
, pp. v
-
-
Flanigan, K.M.1
-
16
-
-
67649849595
-
Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: promising tool for DMD therapy
-
Goyenvalle A., et al. Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: promising tool for DMD therapy. Mol. Ther. 2009, 17:1234-1240.
-
(2009)
Mol. Ther.
, vol.17
, pp. 1234-1240
-
-
Goyenvalle, A.1
-
17
-
-
10044240371
-
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping
-
Goyenvalle A., et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 2004, 306:1796-1799.
-
(2004)
Science
, vol.306
, pp. 1796-1799
-
-
Goyenvalle, A.1
-
18
-
-
84857793829
-
Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping
-
Bish L.T., et al. Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping. Mol. Ther. 2012, 20:580-589.
-
(2012)
Mol. Ther.
, vol.20
, pp. 580-589
-
-
Bish, L.T.1
-
19
-
-
84964313862
-
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients
-
Le Guiner C., et al. Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients. Mol. Ther. 2014, 22:1923-1935.
-
(2014)
Mol. Ther.
, vol.22
, pp. 1923-1935
-
-
Le Guiner, C.1
-
20
-
-
84869086454
-
Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping
-
Vulin A., et al. Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol. Ther. 2012, 20:2120-2133.
-
(2012)
Mol. Ther.
, vol.20
, pp. 2120-2133
-
-
Vulin, A.1
-
21
-
-
61649097962
-
Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
-
Aartsma-Rus A., et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum. Mutat. 2009, 30:293-299.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 293-299
-
-
Aartsma-Rus, A.1
-
22
-
-
84919761182
-
Targeted exon skipping to correct exon duplications in the dystrophin gene
-
Greer K.L., et al. Targeted exon skipping to correct exon duplications in the dystrophin gene. Mol. Ther. Nucleic Acids 2014, 3:e155.
-
(2014)
Mol. Ther. Nucleic Acids
, vol.3
, pp. e155
-
-
Greer, K.L.1
-
23
-
-
33846924058
-
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy
-
Beroud C., et al. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum. Mutat. 2007, 28:196-202.
-
(2007)
Hum. Mutat.
, vol.28
, pp. 196-202
-
-
Beroud, C.1
-
24
-
-
0029810520
-
Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?
-
Fanin M., et al. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?. Muscle Nerve 1996, 19:1154-1160.
-
(1996)
Muscle Nerve
, vol.19
, pp. 1154-1160
-
-
Fanin, M.1
-
25
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
-
Hoffman E.P., et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N. Engl. J. Med. 1988, 318:1363-1368.
-
(1988)
N. Engl. J. Med.
, vol.318
, pp. 1363-1368
-
-
Hoffman, E.P.1
-
26
-
-
0025051336
-
Somatic reversion/suppression of the mouse mdx phenotype in vivo
-
Hoffman E.P., et al. Somatic reversion/suppression of the mouse mdx phenotype in vivo. J. Neurol. Sci. 1990, 99:9-25.
-
(1990)
J. Neurol. Sci.
, vol.99
, pp. 9-25
-
-
Hoffman, E.P.1
-
27
-
-
0027200405
-
Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy
-
Nicholson L.V., et al. Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. Arch. Dis. Child. 1993, 68:632-636.
-
(1993)
Arch. Dis. Child.
, vol.68
, pp. 632-636
-
-
Nicholson, L.V.1
-
28
-
-
0025316225
-
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
-
Nicholson L.V., et al. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol. 1990, 80:239-250.
-
(1990)
Acta Neuropathol.
, vol.80
, pp. 239-250
-
-
Nicholson, L.V.1
-
29
-
-
0027721949
-
The 'rescue' of dystrophin synthesis in boys with Duchenne muscular dystrophy
-
Nicholson L.V. The 'rescue' of dystrophin synthesis in boys with Duchenne muscular dystrophy. Neuromuscul. Disord. 1993, 3:525-531.
-
(1993)
Neuromuscul. Disord.
, vol.3
, pp. 525-531
-
-
Nicholson, L.V.1
-
30
-
-
0027284424
-
Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides
-
Dominski Z., Kole R. Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc. Natl. Acad. Sci. U.S.A. 1993, 90:8673-8677.
-
(1993)
Proc. Natl. Acad. Sci. U.S.A.
, vol.90
, pp. 8673-8677
-
-
Dominski, Z.1
Kole, R.2
-
31
-
-
0025102166
-
A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene
-
Matsuo M., et al. A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene. Biochem. Biophys. Res. Commun. 1990, 170:963-967.
-
(1990)
Biochem. Biophys. Res. Commun.
, vol.170
, pp. 963-967
-
-
Matsuo, M.1
-
32
-
-
0026046262
-
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
-
Matsuo M., et al. Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J. Clin. Invest. 1991, 87:2127-2131.
-
(1991)
J. Clin. Invest.
, vol.87
, pp. 2127-2131
-
-
Matsuo, M.1
-
33
-
-
0028819352
-
Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe
-
Takeshima Y., et al. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe. J. Clin. Invest. 1995, 95:515-520.
-
(1995)
J. Clin. Invest.
, vol.95
, pp. 515-520
-
-
Takeshima, Y.1
-
34
-
-
0030582315
-
Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence
-
Pramono Z.A., et al. Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequence. Biochem. Biophys. Res. Commun. 1996, 226:445-449.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.226
, pp. 445-449
-
-
Pramono, Z.A.1
-
35
-
-
33646671717
-
Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy
-
Takeshima Y., et al. Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. Pediatr. Res. 2006, 59:690-694.
-
(2006)
Pediatr. Res.
, vol.59
, pp. 690-694
-
-
Takeshima, Y.1
-
36
-
-
18844473359
-
Modulation of pre-mRNA splicing in the Duchenne muscular dystrophy gene
-
Dunckley M.G., et al. Modulation of pre-mRNA splicing in the Duchenne muscular dystrophy gene. Biochem. Soc. Trans. 1996, 24:276S.
-
(1996)
Biochem. Soc. Trans.
, vol.24
, pp. 276S
-
-
Dunckley, M.G.1
-
37
-
-
0033044501
-
Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
-
Wilton S.D., et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul. Disord. 1999, 9:330-338.
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 330-338
-
-
Wilton, S.D.1
-
38
-
-
0041688228
-
Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene
-
Errington S.J., et al. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene. J. Gene Med. 2003, 5:518-527.
-
(2003)
J. Gene Med.
, vol.5
, pp. 518-527
-
-
Errington, S.J.1
-
39
-
-
0035793047
-
Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
-
Mann C.J., et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl. Acad. Sci. U.S.A. 2001, 98:42-47.
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 42-47
-
-
Mann, C.J.1
-
40
-
-
0013181060
-
Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy
-
Mann C.J., et al. Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy. J. Gene Med. 2002, 4:644-654.
-
(2002)
J. Gene Med.
, vol.4
, pp. 644-654
-
-
Mann, C.J.1
-
41
-
-
33745479703
-
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD
-
McClorey G., et al. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther. 2006, 13:1373-1381.
-
(2006)
Gene Ther.
, vol.13
, pp. 1373-1381
-
-
McClorey, G.1
-
42
-
-
84870344270
-
Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs
-
Yokota T., et al. Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. Nucleic Acid Ther. 2012, 22:306-315.
-
(2012)
Nucleic Acid Ther.
, vol.22
, pp. 306-315
-
-
Yokota, T.1
-
43
-
-
0035878539
-
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
-
van Deutekom J.C., et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum. Mol. Genet. 2001, 10:1547-1554.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1547-1554
-
-
van Deutekom, J.C.1
-
44
-
-
0036823504
-
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
-
Aartsma-Rus A., et al. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul. Disord. 2002, 12(Suppl. 1):S71-S77.
-
(2002)
Neuromuscul. Disord.
, vol.12
, pp. S71-S77
-
-
Aartsma-Rus, A.1
-
45
-
-
37549034298
-
Local dystrophin restoration with antisense oligonucleotide PRO051
-
van Deutekom J.C., et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N. Engl. J. Med. 2007, 357:2677-2686.
-
(2007)
N. Engl. J. Med.
, vol.357
, pp. 2677-2686
-
-
van Deutekom, J.C.1
-
46
-
-
79955158683
-
Systemic administration of PRO051 in Duchenne's muscular dystrophy
-
Goemans N.M., et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N. Engl. J. Med. 2011, 364:1513-1522.
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 1513-1522
-
-
Goemans, N.M.1
-
47
-
-
84907991204
-
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled Phase 2 study
-
Voit T., et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled Phase 2 study. Lancet Neurol. 2014, 13:987-996.
-
(2014)
Lancet Neurol.
, vol.13
, pp. 987-996
-
-
Voit, T.1
-
48
-
-
0043133425
-
Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle
-
Gebski B.L., et al. Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle. Hum. Mol. Genet. 2003, 12:1801-1811.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 1801-1811
-
-
Gebski, B.L.1
-
49
-
-
32844460899
-
Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide
-
Fletcher S., et al. Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. J. Gene Med. 2006, 8:207-216.
-
(2006)
J. Gene Med.
, vol.8
, pp. 207-216
-
-
Fletcher, S.1
-
50
-
-
34547691961
-
Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse
-
Fletcher S., et al. Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse. Mol. Ther. 2007, 15:1587-1592.
-
(2007)
Mol. Ther.
, vol.15
, pp. 1587-1592
-
-
Fletcher, S.1
-
51
-
-
60549096114
-
Proteomic profiling of antisense-induced exon skipping reveals reversal of pathobiochemical abnormalities in dystrophic mdx diaphragm
-
Doran P., et al. Proteomic profiling of antisense-induced exon skipping reveals reversal of pathobiochemical abnormalities in dystrophic mdx diaphragm. Proteomics 2009, 9:671-685.
-
(2009)
Proteomics
, vol.9
, pp. 671-685
-
-
Doran, P.1
-
52
-
-
77953128623
-
Dystrophin isoform induction in vivo by antisense-mediated alternative splicing
-
Fletcher S., et al. Dystrophin isoform induction in vivo by antisense-mediated alternative splicing. Mol. Ther. 2010, 18:1218-1223.
-
(2010)
Mol. Ther.
, vol.18
, pp. 1218-1223
-
-
Fletcher, S.1
-
53
-
-
84868383391
-
Targeted exon skipping to address "leaky" mutations in the dystrophin gene
-
Fletcher S., et al. Targeted exon skipping to address "leaky" mutations in the dystrophin gene. Mol. Ther. Nucleic Acids 2012, 1:e48.
-
(2012)
Mol. Ther. Nucleic Acids
, vol.1
, pp. e48
-
-
Fletcher, S.1
-
54
-
-
80051690306
-
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, Phase 2, dose-escalation study
-
Cirak S., et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, Phase 2, dose-escalation study. Lancet 2011, 378:595-605.
-
(2011)
Lancet
, vol.378
, pp. 595-605
-
-
Cirak, S.1
-
55
-
-
69949107887
-
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
-
Kinali M., et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009, 8:918-928.
-
(2009)
Lancet Neurol.
, vol.8
, pp. 918-928
-
-
Kinali, M.1
-
56
-
-
84890805770
-
Eteplirsen for the treatment of Duchenne muscular dystrophy
-
Mendell J.R., et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann. Neurol. 2013, 74:637-647.
-
(2013)
Ann. Neurol.
, vol.74
, pp. 637-647
-
-
Mendell, J.R.1
-
57
-
-
0037447517
-
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
-
Aartsma-Rus A., et al. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum. Mol. Genet. 2003, 12:907-914.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 907-914
-
-
Aartsma-Rus, A.1
-
58
-
-
4644227797
-
Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells
-
Aartsma-Rus A., et al. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther. 2004, 11:1391-1398.
-
(2004)
Gene Ther.
, vol.11
, pp. 1391-1398
-
-
Aartsma-Rus, A.1
-
59
-
-
65349121206
-
In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
-
Heemskerk H.A., et al. In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J. Gene Med. 2009, 11:257-266.
-
(2009)
J. Gene Med.
, vol.11
, pp. 257-266
-
-
Heemskerk, H.A.1
-
60
-
-
0030862707
-
Morpholino antisense oligomers: design, preparation, and properties
-
Summerton J., Weller D. Morpholino antisense oligomers: design, preparation, and properties. Antisense Nucleic Acid Drug Dev. 1997, 7:187-195.
-
(1997)
Antisense Nucleic Acid Drug Dev.
, vol.7
, pp. 187-195
-
-
Summerton, J.1
Weller, D.2
-
61
-
-
0032077477
-
Advantages of 2'-O-methyl oligoribonucleotide probes for detecting RNA targets
-
Majlessi M., et al. Advantages of 2'-O-methyl oligoribonucleotide probes for detecting RNA targets. Nucleic Acids Res. 1998, 26:2224-2229.
-
(1998)
Nucleic Acids Res.
, vol.26
, pp. 2224-2229
-
-
Majlessi, M.1
-
62
-
-
0035119936
-
Pharmacokinetic properties of 2'-O-(2-methoxyethyl)-modified oligonucleotide analogs in rats
-
Geary R.S., et al. Pharmacokinetic properties of 2'-O-(2-methoxyethyl)-modified oligonucleotide analogs in rats. J. Pharmacol. Exp. Ther. 2001, 296:890-897.
-
(2001)
J. Pharmacol. Exp. Ther.
, vol.296
, pp. 890-897
-
-
Geary, R.S.1
-
63
-
-
67650486013
-
Locked nucleic acid as a novel class of therapeutic agents
-
Veedu R.N., Wengel J. Locked nucleic acid as a novel class of therapeutic agents. RNA Biol. 2009, 6:321-323.
-
(2009)
RNA Biol.
, vol.6
, pp. 321-323
-
-
Veedu, R.N.1
Wengel, J.2
-
64
-
-
77949676231
-
Locked nucleic acids: promising nucleic acid analogs for therapeutic applications
-
Veedu R.N., Wengel J. Locked nucleic acids: promising nucleic acid analogs for therapeutic applications. Chem. Biodivers. 2010, 7:536-542.
-
(2010)
Chem. Biodivers.
, vol.7
, pp. 536-542
-
-
Veedu, R.N.1
Wengel, J.2
-
65
-
-
0029986009
-
Peptide nucleic acids (PNA): synthesis, properties and potential applications
-
Hyrup B., Nielsen P.E. Peptide nucleic acids (PNA): synthesis, properties and potential applications. Bioorg. Med. Chem. 1996, 4:5-23.
-
(1996)
Bioorg. Med. Chem.
, vol.4
, pp. 5-23
-
-
Hyrup, B.1
Nielsen, P.E.2
-
66
-
-
0037140735
-
Watson-Crick base-pairing properties of tricyclo-DNA
-
Renneberg D., Leumann C.J. Watson-Crick base-pairing properties of tricyclo-DNA. J. Am. Chem. Soc. 2002, 124:5993-6002.
-
(2002)
J. Am. Chem. Soc.
, vol.124
, pp. 5993-6002
-
-
Renneberg, D.1
Leumann, C.J.2
-
67
-
-
0034015113
-
Phosphorothioate oligodeoxynucleotides: what is their origin and what is unique about them?
-
Eckstein F. Phosphorothioate oligodeoxynucleotides: what is their origin and what is unique about them?. Antisense Nucleic Acid Drug Dev. 2000, 10:117-121.
-
(2000)
Antisense Nucleic Acid Drug Dev.
, vol.10
, pp. 117-121
-
-
Eckstein, F.1
-
68
-
-
0036760718
-
Developments in RNA chemistry, a personal view
-
Eckstein F. Developments in RNA chemistry, a personal view. Biochimie 2002, 84:841-848.
-
(2002)
Biochimie
, vol.84
, pp. 841-848
-
-
Eckstein, F.1
-
69
-
-
0032699477
-
Morpholino antisense oligomers: the case for an RNase H-independent structural type
-
Summerton J. Morpholino antisense oligomers: the case for an RNase H-independent structural type. Biochim. Biophys. Acta 1999, 1489:141-158.
-
(1999)
Biochim. Biophys. Acta
, vol.1489
, pp. 141-158
-
-
Summerton, J.1
-
70
-
-
79551618332
-
Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases
-
Du L., Gatti R.A. Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases. J. Immunol. Methods 2011, 365:1-7.
-
(2011)
J. Immunol. Methods
, vol.365
, pp. 1-7
-
-
Du, L.1
Gatti, R.A.2
-
71
-
-
84857784900
-
Progress toward in vivo use of siRNAs - II
-
Rettig G.R., Behlke M.A. Progress toward in vivo use of siRNAs - II. Mol. Ther. 2012, 20:483-512.
-
(2012)
Mol. Ther.
, vol.20
, pp. 483-512
-
-
Rettig, G.R.1
Behlke, M.A.2
-
72
-
-
0041331496
-
SiRNA function in RNAi: a chemical modification analysis
-
Chiu Y.L., Rana T.M. siRNA function in RNAi: a chemical modification analysis. RNA 2003, 9:1034-1048.
-
(2003)
RNA
, vol.9
, pp. 1034-1048
-
-
Chiu, Y.L.1
Rana, T.M.2
-
73
-
-
21244497878
-
Positional effect of chemical modifications on short interference RNA activity in mammalian cells
-
Prakash T.P., et al. Positional effect of chemical modifications on short interference RNA activity in mammalian cells. J. Med. Chem. 2005, 48:4247-4253.
-
(2005)
J. Med. Chem.
, vol.48
, pp. 4247-4253
-
-
Prakash, T.P.1
-
74
-
-
70349342914
-
Locked nucleic acid nucleoside triphosphates and polymerases: on the way towards evolution of LNA aptamers
-
Veedu R.N., Wengel J. Locked nucleic acid nucleoside triphosphates and polymerases: on the way towards evolution of LNA aptamers. Mol. Biosyst. 2009, 5:787-792.
-
(2009)
Mol. Biosyst.
, vol.5
, pp. 787-792
-
-
Veedu, R.N.1
Wengel, J.2
-
75
-
-
0032750621
-
2(-Carbohydrate modifications in antisense oligonucleotide therapy: importance of conformation, configuration and conjugation
-
Manoharan M. 2(-Carbohydrate modifications in antisense oligonucleotide therapy: importance of conformation, configuration and conjugation. Biochim. Biophys. Acta 1999, 1489:117-130.
-
(1999)
Biochim. Biophys. Acta
, vol.1489
, pp. 117-130
-
-
Manoharan, M.1
-
76
-
-
0028129843
-
Stability of peptide nucleic acids in human serum and cellular extracts
-
Demidov V.V., et al. Stability of peptide nucleic acids in human serum and cellular extracts. Biochem. Pharmacol. 1994, 48:1310-1313.
-
(1994)
Biochem. Pharmacol.
, vol.48
, pp. 1310-1313
-
-
Demidov, V.V.1
-
77
-
-
77949512140
-
RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform
-
Bennett C.F., Swayze E.E. RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform. Annu. Rev. Pharmacol. Toxicol. 2010, 50:259-293.
-
(2010)
Annu. Rev. Pharmacol. Toxicol.
, vol.50
, pp. 259-293
-
-
Bennett, C.F.1
Swayze, E.E.2
-
78
-
-
77951198765
-
Peptide nucleic acids (PNA) in chemical biology and drug discovery
-
Nielsen P.E. Peptide nucleic acids (PNA) in chemical biology and drug discovery. Chem. Biodivers. 2010, 7:786-804.
-
(2010)
Chem. Biodivers.
, vol.7
, pp. 786-804
-
-
Nielsen, P.E.1
-
79
-
-
0032473890
-
LNA (locked nucleic acids): synthesis of the adenine, cytosine, guanine, 5-methylcytosine, thymine and uracil bicyclonucleoside monomers, oligomerisation, and unprecedented nucleic acid recognition
-
Koshkin A.A., et al. LNA (locked nucleic acids): synthesis of the adenine, cytosine, guanine, 5-methylcytosine, thymine and uracil bicyclonucleoside monomers, oligomerisation, and unprecedented nucleic acid recognition. Tetrahedron 1998, 54:3607-3630.
-
(1998)
Tetrahedron
, vol.54
, pp. 3607-3630
-
-
Koshkin, A.A.1
-
80
-
-
0032560835
-
Stability and structural features of the duplexes containing nucleoside analogues with a fixed N-type conformation, 2'-O,4'-C-methyleneribonucleosides
-
Obika S., et al. Stability and structural features of the duplexes containing nucleoside analogues with a fixed N-type conformation, 2'-O,4'-C-methyleneribonucleosides. Tetrahedron Lett. 1998, 39:5401-5404.
-
(1998)
Tetrahedron Lett.
, vol.39
, pp. 5401-5404
-
-
Obika, S.1
-
81
-
-
78651298572
-
Improving gene silencing of siRNAs via tricyclo-DNA modification
-
Ittig D., et al. Improving gene silencing of siRNAs via tricyclo-DNA modification. Artif. DNA PNA XNA 2010, 1:9-16.
-
(2010)
Artif. DNA PNA XNA
, vol.1
, pp. 9-16
-
-
Ittig, D.1
-
82
-
-
0036640332
-
Antisense properties of tricyclo-DNA
-
Renneberg D., et al. Antisense properties of tricyclo-DNA. Nucleic Acids Res. 2002, 30:2751-2757.
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 2751-2757
-
-
Renneberg, D.1
-
83
-
-
84925507915
-
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers
-
Goyenvalle A., et al. Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. Nat. Med. 2015, 21:270-275.
-
(2015)
Nat. Med.
, vol.21
, pp. 270-275
-
-
Goyenvalle, A.1
-
84
-
-
19444375104
-
DNA-based therapeutics and DNA delivery systems: a comprehensive review
-
Patil S.D., et al. DNA-based therapeutics and DNA delivery systems: a comprehensive review. AAPS J. 2005, 7:E61-E77.
-
(2005)
AAPS J.
, vol.7
, pp. E61-E77
-
-
Patil, S.D.1
-
85
-
-
0032931119
-
Lipid-based systems for the intracellular delivery of genetic drugs
-
Maurer N., et al. Lipid-based systems for the intracellular delivery of genetic drugs. Mol. Membr. Biol. 1999, 16:129-140.
-
(1999)
Mol. Membr. Biol.
, vol.16
, pp. 129-140
-
-
Maurer, N.1
-
86
-
-
1442301081
-
Current status of delivery systems to improve target efficacy of oligonucleotides
-
Shoji Y., Nakashima H. Current status of delivery systems to improve target efficacy of oligonucleotides. Curr. Pharm. Des. 2004, 10:785-796.
-
(2004)
Curr. Pharm. Des.
, vol.10
, pp. 785-796
-
-
Shoji, Y.1
Nakashima, H.2
-
87
-
-
84903184138
-
Oligonucleotide delivery: a patent review (2010-2013)
-
Grijalvo S., et al. Oligonucleotide delivery: a patent review (2010-2013). Expert Opin. Ther. Pat. 2014, 24:801-819.
-
(2014)
Expert Opin. Ther. Pat.
, vol.24
, pp. 801-819
-
-
Grijalvo, S.1
-
88
-
-
34548150237
-
Cell-penetrating-peptide-based delivery of oligonucleotides: an overview
-
Abes R., et al. Cell-penetrating-peptide-based delivery of oligonucleotides: an overview. Biochem. Soc. Trans. 2007, 35:775-779.
-
(2007)
Biochem. Soc. Trans.
, vol.35
, pp. 775-779
-
-
Abes, R.1
-
89
-
-
50549093417
-
Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice
-
Jearawiriyapaisarn N., et al. Sustained dystrophin expression induced by peptide-conjugated morpholino oligomers in the muscles of mdx mice. Mol. Ther. 2008, 16:1624-1629.
-
(2008)
Mol. Ther.
, vol.16
, pp. 1624-1629
-
-
Jearawiriyapaisarn, N.1
-
90
-
-
84878668264
-
In vivo delivery of morpholino oligos by cell-penetrating peptides
-
Moulton H.M. In vivo delivery of morpholino oligos by cell-penetrating peptides. Curr. Pharm. Des. 2012, 19:2963-2969.
-
(2012)
Curr. Pharm. Des.
, vol.19
, pp. 2963-2969
-
-
Moulton, H.M.1
-
91
-
-
34548157008
-
Cell-penetrating peptide-morpholino conjugates alter pre-mRNA splicing of DMD (Duchenne muscular dystrophy) and inhibit murine coronavirus replication in vivo
-
Moulton H.M., et al. Cell-penetrating peptide-morpholino conjugates alter pre-mRNA splicing of DMD (Duchenne muscular dystrophy) and inhibit murine coronavirus replication in vivo. Biochem. Soc. Trans. 2007, 35:826-828.
-
(2007)
Biochem. Soc. Trans.
, vol.35
, pp. 826-828
-
-
Moulton, H.M.1
-
92
-
-
74149093605
-
Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping
-
Goyenvalle A., et al. Prevention of dystrophic pathology in severely affected dystrophin/utrophin-deficient mice by morpholino-oligomer-mediated exon-skipping. Mol. Ther. 2010, 18:198-205.
-
(2010)
Mol. Ther.
, vol.18
, pp. 198-205
-
-
Goyenvalle, A.1
-
93
-
-
84928340028
-
Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage dystrophic dko mice
-
Wu B., et al. Exon skipping restores dystrophin expression, but fails to prevent disease progression in later stage dystrophic dko mice. Gene Ther. 2014, 21:785-793.
-
(2014)
Gene Ther.
, vol.21
, pp. 785-793
-
-
Wu, B.1
-
94
-
-
34548569135
-
Cell-penetrating peptides as transporters for morpholino oligomers: effects of amino acid composition on intracellular delivery and cytotoxicity
-
Wu R.P., et al. Cell-penetrating peptides as transporters for morpholino oligomers: effects of amino acid composition on intracellular delivery and cytotoxicity. Nucleic Acids Res. 2007, 35:5182-5191.
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 5182-5191
-
-
Wu, R.P.1
-
95
-
-
33845903558
-
Antisense peptide-phosphorodiamidate morpholino oligomer conjugate: dose-response in mice infected with Escherichia coli
-
Tilley L.D., et al. Antisense peptide-phosphorodiamidate morpholino oligomer conjugate: dose-response in mice infected with Escherichia coli. J. Antimicrob. Chemother. 2007, 59:66-73.
-
(2007)
J. Antimicrob. Chemother.
, vol.59
, pp. 66-73
-
-
Tilley, L.D.1
-
96
-
-
84898967379
-
Cellular trafficking determines the exon skipping activity of Pip6a-PMO in mdx skeletal and cardiac muscle cells
-
Lehto T., et al. Cellular trafficking determines the exon skipping activity of Pip6a-PMO in mdx skeletal and cardiac muscle cells. Nucleic Acids Res. 2014, 42:3207-3217.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 3207-3217
-
-
Lehto, T.1
-
97
-
-
84903753039
-
Context dependent effects of chimeric peptide morpholino conjugates contribute to dystrophin exon-skipping efficiency
-
Yin H., et al. Context dependent effects of chimeric peptide morpholino conjugates contribute to dystrophin exon-skipping efficiency. Mol. Ther. Nucleic Acids 2013, 2:e124.
-
(2013)
Mol. Ther. Nucleic Acids
, vol.2
, pp. e124
-
-
Yin, H.1
-
98
-
-
84878653844
-
Cell penetrating peptide delivery of splice directing oligonucleotides as a treatment for Duchenne muscular dystrophy
-
Betts C.A., Wood M.J. Cell penetrating peptide delivery of splice directing oligonucleotides as a treatment for Duchenne muscular dystrophy. Curr. Pharm. Des. 2013, 19:2948-2962.
-
(2013)
Curr. Pharm. Des.
, vol.19
, pp. 2948-2962
-
-
Betts, C.A.1
Wood, M.J.2
-
99
-
-
84921321554
-
Dystrophin quantification: biological and translational research implications
-
Anthony K., et al. Dystrophin quantification: biological and translational research implications. Neurology 2014, 83:2062-2069.
-
(2014)
Neurology
, vol.83
, pp. 2062-2069
-
-
Anthony, K.1
-
100
-
-
84891928939
-
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial
-
Flanigan K.M., et al. Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial. Neuromuscul. Disord. 2014, 24:16-24.
-
(2014)
Neuromuscul. Disord.
, vol.24
, pp. 16-24
-
-
Flanigan, K.M.1
-
101
-
-
77955354786
-
PRO-051, an antisense oligonucleotide for the potential treatment of Duchenne muscular dystrophy
-
Hammond S.M., Wood M.J. PRO-051, an antisense oligonucleotide for the potential treatment of Duchenne muscular dystrophy. Curr. Opin. Mol. Ther. 2010, 12:478-486.
-
(2010)
Curr. Opin. Mol. Ther.
, vol.12
, pp. 478-486
-
-
Hammond, S.M.1
Wood, M.J.2
-
102
-
-
84894279286
-
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy
-
Zaharieva I.T., et al. Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS ONE 2013, 8:e80263.
-
(2013)
PLoS ONE
, vol.8
, pp. e80263
-
-
Zaharieva, I.T.1
-
103
-
-
0024314433
-
Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis
-
Kunkel L.M., et al. Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin. Chem. 1989, 35:B21-B24.
-
(1989)
Clin. Chem.
, vol.35
, pp. B21-B24
-
-
Kunkel, L.M.1
-
104
-
-
84891829592
-
Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy
-
van den Bergen J.C., et al. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. J. Neurol. Neurosurg. Psychiatry 2014, 85:92-98.
-
(2014)
J. Neurol. Neurosurg. Psychiatry
, vol.85
, pp. 92-98
-
-
van den Bergen, J.C.1
-
105
-
-
36248985708
-
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
-
Neri M., et al. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul. Disord. 2007, 17:913-918.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 913-918
-
-
Neri, M.1
-
106
-
-
0344420060
-
Dystrophin and mutations: one gene, several proteins, multiple phenotypes
-
Muntoni F., et al. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003, 2:731-740.
-
(2003)
Lancet Neurol.
, vol.2
, pp. 731-740
-
-
Muntoni, F.1
-
107
-
-
0028837312
-
The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced
-
Tennyson C.N., et al. The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat. Genet. 1995, 9:184-190.
-
(1995)
Nat. Genet.
, vol.9
, pp. 184-190
-
-
Tennyson, C.N.1
-
108
-
-
0029738143
-
Stability of the human dystrophin transcript in muscle
-
Tennyson C.N., et al. Stability of the human dystrophin transcript in muscle. Nucleic Acids Res. 1996, 24:3059-3064.
-
(1996)
Nucleic Acids Res.
, vol.24
, pp. 3059-3064
-
-
Tennyson, C.N.1
-
109
-
-
80054680717
-
Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching
-
Fragall C.T., et al. Mismatched single stranded antisense oligonucleotides can induce efficient dystrophin splice switching. BMC Med. Genet. 2011, 12:141.
-
(2011)
BMC Med. Genet.
, vol.12
, pp. 141
-
-
Fragall, C.T.1
-
110
-
-
84858797261
-
Multiple exon skipping strategies to by-pass dystrophin mutations
-
Adkin C.F., et al. Multiple exon skipping strategies to by-pass dystrophin mutations. Neuromuscul. Disord. 2012, 22:297-305.
-
(2012)
Neuromuscul. Disord.
, vol.22
, pp. 297-305
-
-
Adkin, C.F.1
-
111
-
-
84932147351
-
Antisense suppression of donor splice site mutations in the dystrophin gene transcript
-
Fletcher S., et al. Antisense suppression of donor splice site mutations in the dystrophin gene transcript. Mol. Genet. Genomic Med. 2013, 1:162-173.
-
(2013)
Mol. Genet. Genomic Med.
, vol.1
, pp. 162-173
-
-
Fletcher, S.1
-
112
-
-
84908315048
-
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice
-
Wein N., et al. Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. Nat. Med. 2014, 20:992-1000.
-
(2014)
Nat. Med.
, vol.20
, pp. 992-1000
-
-
Wein, N.1
-
113
-
-
39049095823
-
DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy
-
Gurvich O.L., et al. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann. Neurol. 2008, 63:81-89.
-
(2008)
Ann. Neurol.
, vol.63
, pp. 81-89
-
-
Gurvich, O.L.1
-
114
-
-
34248511708
-
Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript
-
Wilton S.D., et al. Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript. Mol. Ther. 2007, 15:1288-1296.
-
(2007)
Mol. Ther.
, vol.15
, pp. 1288-1296
-
-
Wilton, S.D.1
-
115
-
-
84891824786
-
Becker and Duchenne muscular dystrophy: a two-way information process for therapies
-
Lochmuller H., Bushby K. Becker and Duchenne muscular dystrophy: a two-way information process for therapies. J. Neurol. Neurosurg. Psychiatry 2014, 85:5-6.
-
(2014)
J. Neurol. Neurosurg. Psychiatry
, vol.85
, pp. 5-6
-
-
Lochmuller, H.1
Bushby, K.2
-
116
-
-
84925792072
-
Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27
-
Tsuda T., et al. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J. Hum. Genet. 2014, 60:151-155.
-
(2014)
J. Hum. Genet.
, vol.60
, pp. 151-155
-
-
Tsuda, T.1
-
117
-
-
84872425098
-
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2
-
Witting N., et al. Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. Neuromuscul. Disord. 2012, 23:25-28.
-
(2012)
Neuromuscul. Disord.
, vol.23
, pp. 25-28
-
-
Witting, N.1
-
118
-
-
77449132523
-
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy
-
Kaspar R.W., et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ. Cardiovasc. Genet. 2009, 2:544-551.
-
(2009)
Circ. Cardiovasc. Genet.
, vol.2
, pp. 544-551
-
-
Kaspar, R.W.1
-
119
-
-
71749114728
-
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
-
Flanigan K.M., et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum. Mutat. 2009, 30:1657-1666.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1657-1666
-
-
Flanigan, K.M.1
-
120
-
-
84904367458
-
Duchenne and Becker muscular dystrophies
-
viii
-
Flanigan K.M. Duchenne and Becker muscular dystrophies. Neurol. Clin. 2014, 32:671-688. viii.
-
(2014)
Neurol. Clin.
, vol.32
, pp. 671-688
-
-
Flanigan, K.M.1
-
121
-
-
0006695192
-
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion
-
Kunkel L.M., et al. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc. Natl. Acad. Sci. U.S.A. 1985, 82:4778-4782.
-
(1985)
Proc. Natl. Acad. Sci. U.S.A.
, vol.82
, pp. 4778-4782
-
-
Kunkel, L.M.1
|