-
2
-
-
84859181514
-
Evidence-based path to newborn screening for Duchenne muscular dystrophy
-
Mendell, J. R. et al. Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann. Neurol. 71, 304-313 (2012).
-
(2012)
Ann. Neurol.
, vol.71
, pp. 304-313
-
-
Mendell, J.R.1
-
3
-
-
33645730485
-
Sparks, signals and shock absorbers: How dystrophin loss causes muscular dystrophy
-
Batchelor, C. L. & Winder, S. J. Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy. Trends Cell. Biol. 16, 198-205 (2006).
-
(2006)
Trends Cell. Biol.
, vol.16
, pp. 198-205
-
-
Batchelor, C.L.1
Winder, S.J.2
-
4
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti, J. M., Ohlendieck, K., Kahl, S. D., Gaver, M. G. & Campbell, K. P. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345, 315-319 (1990).
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
5
-
-
4043092073
-
Systemic delivery of genes to striated muscles using adenoassociated viral vectors
-
Gregorevic, P. et al. Systemic delivery of genes to striated muscles using adenoassociated viral vectors. Nat. Med. 10, 828-834 (2004).
-
(2004)
Nat. Med.
, vol.10
, pp. 828-834
-
-
Gregorevic, P.1
-
6
-
-
85011728863
-
Progress and prospects of gene therapy clinical trials for the muscular dystrophies
-
Bengtsson, N. E., Seto, J. T., Hall, J. K., Chamberlain, J. S. & Odom, G. L. Progress and prospects of gene therapy clinical trials for the muscular dystrophies. Hum. Mol. Genet. 25, R9-R17 (2015).
-
(2015)
Hum. Mol. Genet.
, vol.25
, pp. R9-R17
-
-
Bengtsson, N.E.1
Seto, J.T.2
Hall, J.K.3
Chamberlain, J.S.4
Odom, G.L.5
-
7
-
-
33846300685
-
Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle
-
Salva, M. Z. et al. Design of tissue-specific regulatory cassettes for high-level rAAV-mediated expression in skeletal and cardiac muscle. Mol. Ther. 15, 320-329 (2007).
-
(2007)
Mol. Ther.
, vol.15
, pp. 320-329
-
-
Salva, M.Z.1
-
8
-
-
0036127393
-
Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy
-
Harper, S. Q. et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat. Med. 8, 253-261 2002
-
(2002)
Nat. Med.
, vol.8
, pp. 253-261
-
-
Harper, S.Q.1
-
9
-
-
84878544086
-
The cell biology of disease: Cellular and molecular mechanisms underlying muscular dystrophy
-
Rahimov, F. & Kunkel, L. M. The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J. Cell Biol. 201, 499-510 (2013).
-
(2013)
J. Cell Biol.
, vol.201
, pp. 499-510
-
-
Rahimov, F.1
Kunkel, L.M.2
-
10
-
-
77953228905
-
The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins
-
Banks, G. B., Judge, L. M., Allen, J. M. & Chamberlain, J. S. The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins. PLoS Genet. 6, e1000958 (2010).
-
(2010)
PLoS Genet.
, vol.6
, pp. e1000958
-
-
Banks, G.B.1
Judge, L.M.2
Allen, J.M.3
Chamberlain, J.S.4
-
11
-
-
65649111197
-
Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy
-
Lai, Y. et al. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J. Clin. Invest. 119, 624-635 (2009).
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 624-635
-
-
Lai, Y.1
-
12
-
-
84923652406
-
Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy
-
Ousterout, D. G. et al. Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy. Nat. Commun. 6, 6244 (2015).
-
(2015)
Nat. Commun.
, vol.6
, pp. 6244
-
-
Ousterout, D.G.1
-
13
-
-
84920853711
-
Precise correction of the dystrophin gene in Duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9
-
Li, H. L. et al. Precise correction of the dystrophin gene in Duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9. Stem Cell Rep. 4, 143-154 (2015).
-
(2015)
Stem Cell Rep.
, vol.4
, pp. 143-154
-
-
Li, H.L.1
-
14
-
-
84907200149
-
Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA
-
Long, C. et al. Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA. Science 345, 1184-1188 (2014).
-
(2014)
Science
, vol.345
, pp. 1184-1188
-
-
Long, C.1
-
15
-
-
84963985350
-
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
-
Tabebordbar, M. et al. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. Science 351, 407-411 (2016).
-
(2016)
Science
, vol.351
, pp. 407-411
-
-
Tabebordbar, M.1
-
16
-
-
84963940775
-
In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy
-
Nelson, C. E. et al. In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. Science 351, 403-407 2016
-
(2016)
Science
, vol.351
, pp. 403-407
-
-
Nelson, C.E.1
-
17
-
-
84961291537
-
Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy
-
Long, C. et al. Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy. Science 351, 400-403 (2016).
-
(2016)
Science
, vol.351
, pp. 400-403
-
-
Long, C.1
-
18
-
-
0024353559
-
The molecular basis of muscular dystrophy in the mdx mouse: A point mutation
-
Sicinski, P. et al. The molecular basis of muscular dystrophy in the mdx mouse: A point mutation. Science 244, 1578-1580 (1989).
-
(1989)
Science
, vol.244
, pp. 1578-1580
-
-
Sicinski, P.1
-
19
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig, M. et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am. J. Hum. Genet. 45, 498-506 (1989).
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 498-506
-
-
Koenig, M.1
-
20
-
-
0029820310
-
Differential expression of dystrophin isoforms in strains of mdx mice with different mutations
-
Im, W. B. et al. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum. Mol. Genet. 5, 1149-1153 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1149-1153
-
-
Im, W.B.1
-
21
-
-
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. 30, 1657-1666 (2009).
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1657-1666
-
-
Flanigan, K.M.1
-
22
-
-
84873729095
-
Multiplex genome engineering using CRISPR/Cas systems
-
Cong, L. et al. Multiplex genome engineering using CRISPR/Cas systems. Science 339, 819-823 (2013).
-
(2013)
Science
, vol.339
, pp. 819-823
-
-
Cong, L.1
-
23
-
-
84927514894
-
In vivo genome editing using Staphylococcus aureus Cas9
-
Ran, F. A. et al. In vivo genome editing using Staphylococcus aureus Cas9. Nature 520, 186-191 (2015).
-
(2015)
Nature
, vol.520
, pp. 186-191
-
-
Ran, F.A.1
-
24
-
-
79960064622
-
Design and testing of regulatory cassettes for optimal activity in skeletal and cardiac muscles
-
Himeda, C. L., Chen, X. & Hauschka, S. D. Design and testing of regulatory cassettes for optimal activity in skeletal and cardiac muscles. Methods Mol. Biol. 709, 3-19 (2011).
-
(2011)
Methods Mol. Biol.
, vol.709
, pp. 3-19
-
-
Himeda, C.L.1
Chen, X.2
Hauschka, S.D.3
-
25
-
-
0035667634
-
Immune evasion by muscle-specific gene expression in dystrophic muscle
-
Hartigan-O'Connor, D., Kirk, C. J., Crawford, R., Mule, J. J. & Chamberlain, J. S. Immune evasion by muscle-specific gene expression in dystrophic muscle. Mol. Ther. 4, 525-533 (2001).
-
(2001)
Mol. Ther.
, vol.4
, pp. 525-533
-
-
Hartigan-O'Connor, D.1
Kirk, C.J.2
Crawford, R.3
Mule, J.J.4
Chamberlain, J.S.5
-
26
-
-
84926195402
-
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice
-
Hu, C. et al. Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice. Mol. Ther. 22, 1792-1802 (2014).
-
(2014)
Mol. Ther.
, vol.22
, pp. 1792-1802
-
-
Hu, C.1
-
28
-
-
0035733068
-
Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene
-
Ito, T., Takeshima, Y., Sakamoto, H., Nakamura, H. & Matsuo, M. Purine-rich exon sequences are not necessarily splicing enhancer sequence in the dystrophin gene. Kobe J. Med. Sci. 47, 193-202 (2001).
-
(2001)
Kobe J. Med. Sci.
, vol.47
, pp. 193-202
-
-
Ito, T.1
Takeshima, Y.2
Sakamoto, H.3
Nakamura, H.4
Matsuo, M.5
-
29
-
-
0021927243
-
Regulation of creatine kinase induction in differentiating mouse myoblasts
-
Chamberlain, J. S., Jaynes, J. B. & Hauschka, S. D. Regulation of creatine kinase induction in differentiating mouse myoblasts. Mol. Cell. Biol. 5, 484-492 (1985).
-
(1985)
Mol. Cell. Biol.
, vol.5
, pp. 484-492
-
-
Chamberlain, J.S.1
Jaynes, J.B.2
Hauschka, S.D.3
-
30
-
-
0022767343
-
Transcriptional regulation of the muscle creatine kinase gene and regulated expression in transfected mouse myoblasts
-
Jaynes, J. B., Chamberlain, J. S., Buskin, J. N., Johnson, J. E. & Hauschka, S. D. Transcriptional regulation of the muscle creatine kinase gene and regulated expression in transfected mouse myoblasts. Mol. Cell. Biol. 6, 2855-2864 (1986).
-
(1986)
Mol. Cell. Biol.
, vol.6
, pp. 2855-2864
-
-
Jaynes, J.B.1
Chamberlain, J.S.2
Buskin, J.N.3
Johnson, J.E.4
Hauschka, S.D.5
-
31
-
-
0034218590
-
Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors
-
Hauser, M. A. et al. Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors. Mol. Ther. 2, 16-25 (2000).
-
(2000)
Mol. Ther.
, vol.2
, pp. 16-25
-
-
Hauser, M.A.1
-
32
-
-
78650903850
-
Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6
-
Odom, G. L., Gregorevic, P., Allen, J. M. & Chamberlain, J. S. Gene therapy of mdx mice with large truncated dystrophins generated by recombination using rAAV6. Mol. Ther. 19, 36-45 (2011).
-
(2011)
Mol. Ther.
, vol.19
, pp. 36-45
-
-
Odom, G.L.1
Gregorevic, P.2
Allen, J.M.3
Chamberlain, J.S.4
-
33
-
-
84929166074
-
Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining
-
Maruyama, T. et al. Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining. Nat. Biotechnol. 33, 538-542 (2015).
-
(2015)
Nat. Biotechnol.
, vol.33
, pp. 538-542
-
-
Maruyama, T.1
-
34
-
-
84975678715
-
Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system
-
Zetsche, B. et al. Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system. Cell 163, 759-771 (2015).
-
(2015)
Cell
, vol.163
, pp. 759-771
-
-
Zetsche, B.1
-
35
-
-
84884288934
-
Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity
-
Ran, F. A. et al. Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity. Cell 154, 1380-1389 (2013).
-
(2013)
Cell
, vol.154
, pp. 1380-1389
-
-
Ran, F.A.1
-
36
-
-
84969297624
-
Adeno-associated viral vectors do not efficiently target muscle satellite cells
-
Arnett, A. L. H. et al. Adeno-associated viral vectors do not efficiently target muscle satellite cells. Mol. Ther. Methods Clin. Dev. 1, 14038 (2014).
-
(2014)
Mol. Ther. Methods Clin. Dev.
, vol.1
, pp. 14038
-
-
Arnett, A.L.H.1
-
37
-
-
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. 17, 913-918 (2007).
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 913-918
-
-
Neri, M.1
-
38
-
-
0029122523
-
Expression of full-length and truncated dystrophin minigenes in transgenic mdx mice
-
Phelps, S. F. et al. Expression of full-length and truncated dystrophin minigenes in transgenic mdx mice. Hum. Mol. Genet. 4, 1251-1258 (1995).
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1251-1258
-
-
Phelps, S.F.1
-
39
-
-
84892765883
-
Genome-scale CRISPR-Cas9 knockout screening in human cells
-
Shalem, O. et al. Genome-scale CRISPR-Cas9 knockout screening in human cells. Science 343, 84-87 (2014).
-
(2014)
Science
, vol.343
, pp. 84-87
-
-
Shalem, O.1
-
40
-
-
4644252083
-
Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6
-
Blankinship, M. J. et al. Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6. Mol. Ther. 10, 671-678 (2004).
-
(2004)
Mol. Ther.
, vol.10
, pp. 671-678
-
-
Blankinship, M.J.1
-
41
-
-
39549098706
-
Establishment of fibroblast cultures
-
Takashima, A. Establishment of fibroblast cultures. Curr. Protoc. Cell Biol. 2. 1, 2. 1. 1-2. 1. 12 (2001).
-
(2001)
Curr. Protoc. Cell Biol.
, vol.21
, pp. 211-2112
-
-
Takashima, A.1
-
42
-
-
84978405425
-
Analyzing CRISPR genome-editing experiments with CRISPResso
-
Pinello, L. et al. Analyzing CRISPR genome-editing experiments with CRISPResso. Nat. Biotechnol. 34, 695-697 (2016).
-
(2016)
Nat. Biotechnol.
, vol.34
, pp. 695-697
-
-
Pinello, L.1
-
43
-
-
0035726738
-
Tibialis anterior muscles in mdx mice are highly susceptible to contraction-induced injury
-
Dellorusso, C., Crawford, R. W., Chamberlain, J. S. & Brooks, S. V. Tibialis anterior muscles in mdx mice are highly susceptible to contraction-induced injury. J. Muscle Res. Cell Motil. 22, 467-475 (2001).
-
(2001)
J. Muscle Res. Cell Motil.
, vol.22
, pp. 467-475
-
-
Dellorusso, C.1
Crawford, R.W.2
Chamberlain, J.S.3
Brooks, S.V.4
-
44
-
-
33745894322
-
RAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice
-
Gregorevic, P. et al. rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice. Nat. Med. 12, 787-789 2006
-
(2006)
Nat. Med.
, vol.12
, pp. 787-789
-
-
Gregorevic, P.1
|