-
1
-
-
84878016335
-
Therapy for Duchenne muscular dystrophy: Renewed optimism from genetic approaches
-
Fairclough, R. J., Wood, M. J., Davies, K. E. Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches. Nat Rev Genet 14, 373-378, doi: 10.1038/nrg3460 (2013).
-
(2013)
Nat Rev Genet
, vol.14
, pp. 373-378
-
-
Fairclough, R.J.1
Wood, M.J.2
Davies, K.E.3
-
2
-
-
16644402070
-
Duchenne muscular dystrophy and dystrophin: Pathogenesis and opportunities for treatment
-
Nowak, K. J., Davies, K. E. Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO Rep 5, 872-876, doi: 10.1038/sj.embor.7400221 (2004).
-
(2004)
EMBO Rep
, vol.5
, pp. 872-876
-
-
Nowak, K.J.1
Davies, K.E.2
-
3
-
-
0023572154
-
Subcellular fractionation of dystrophin to the triads of skeletal muscle
-
Hoffman, E. P., Knudson, C. M., Campbell, K. P., Kunkel, L. M. Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature 330, 754-758, doi: 10.1038/330754a0 (1987).
-
(1987)
Nature
, vol.330
, pp. 754-758
-
-
Hoffman, E.P.1
Knudson, C.M.2
Campbell, K.P.3
Kunkel, L.M.4
-
4
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
White, S. et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 71, 365-374, doi: 10.1086/341942 (2002).
-
(2002)
Am J Hum Genet
, vol.71
, pp. 365-374
-
-
White, S.1
-
5
-
-
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 8, 918-928, doi: 10.1016/S1474-4422(09)70211-X (2009).
-
(2009)
Lancet Neurol
, vol.8
, pp. 918-928
-
-
Kinali, M.1
-
6
-
-
79960981599
-
Targeting RNA to treat neuromuscular disease
-
Muntoni, F., Wood, M. J. A. Targeting RNA to treat neuromuscular disease. Nature Reviews Drug Discovery 10, 621-637, doi: 10.1038/Nrd3459 (2011).
-
(2011)
Nature Reviews Drug Discovery
, vol.10
, pp. 621-637
-
-
Muntoni, F.1
Wood, M.J.A.2
-
8
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
Takahashi, K. et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131, 861-872, doi: 10.1016/j.cell.2007.11.019 (2007).
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
-
9
-
-
84883495730
-
Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
-
Hirata, S. et al. Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. J Clin Invest 123, 3802-3814, doi: 10.1172/JCI64721 (2013).
-
(2013)
J Clin Invest
, vol.123
, pp. 3802-3814
-
-
Hirata, S.1
-
10
-
-
84875916922
-
Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Abeta and differential drug responsiveness
-
Kondo, T. et al. Modeling Alzheimer's disease with iPSCs reveals stress phenotypes associated with intracellular Abeta and differential drug responsiveness. Cell stem cell 12, 487-496, doi: 10.1016/j.stem.2013.01.009 (2013).
-
(2013)
Cell Stem Cell
, vol.12
, pp. 487-496
-
-
Kondo, T.1
-
11
-
-
0006462275
-
Defective myoblasts identified in Duchenne muscular dystrophy
-
Blau, H. M., Webster, C., Pavlath, G. K. Defective myoblasts identified in Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America 80, 4856-4860 (1983).
-
(1983)
Proceedings of the National Academy of Sciences of the United States of America
, vol.80
, pp. 4856-4860
-
-
Blau, H.M.1
Webster, C.2
Pavlath, G.K.3
-
12
-
-
0025189615
-
Changes in surface morphology and basal lamina of cultured muscle cells from Duchenne muscular dystrophy patients
-
Delaporte, C., Dautreaux, B., Rouche, A., Fardeau, M. Changes in surface morphology and basal lamina of cultured muscle cells from Duchenne muscular dystrophy patients. Journal of the neurological sciences 95, 77-88 (1990).
-
(1990)
Journal of the Neurological Sciences
, vol.95
, pp. 77-88
-
-
Delaporte, C.1
Dautreaux, B.2
Rouche, A.3
Fardeau, M.4
-
13
-
-
0025646136
-
Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: Implications for cell and gene therapy
-
Webster, C., Blau, H. M. Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: implications for cell and gene therapy. Somatic cell and molecular genetics 16, 557-565 (1990).
-
(1990)
Somatic Cell and Molecular Genetics
, vol.16
, pp. 557-565
-
-
Webster, C.1
Blau, H.M.2
-
14
-
-
0033958440
-
Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children
-
Decary, S. et al. Shorter telomeres in dystrophic muscle consistent with extensive regeneration in young children. Neuromuscular disorders: NMD 10, 113-120 (2000).
-
(2000)
Neuromuscular Disorders: NMD
, vol.10
, pp. 113-120
-
-
Decary, S.1
-
15
-
-
0001426717
-
High Creatine Phosphokinase Activity of Sera of Progressive Muscular Dystrophy
-
Ebashi, S., Toyokura, Y., Momoi, H., Sugita, H. High Creatine Phosphokinase Activity of Sera of Progressive Muscular Dystrophy. Journal of Biochemistry 46, 103-104 (1959).
-
(1959)
Journal of Biochemistry
, vol.46
, pp. 103-104
-
-
Ebashi, S.1
Toyokura, Y.2
Momoi, H.3
Sugita, H.4
-
16
-
-
77957870248
-
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy
-
Menazza, S. et al. Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy. Human molecular genetics 19, 4207-4215, doi: 10.1093/hmg/ddq339 (2010).
-
(2010)
Human Molecular Genetics
, vol.19
, pp. 4207-4215
-
-
Menazza, S.1
-
17
-
-
68949143544
-
Immune-mediated mechanisms potentially regulate the disease time-course of duchenne muscular dystrophy and provide targets for therapeutic intervention
-
Evans, N. P., Misyak, S. A., Robertson, J. L., Bassaganya-Riera, J., Grange, R. W. Immune-mediated mechanisms potentially regulate the disease time-course of duchenne muscular dystrophy and provide targets for therapeutic intervention. PM & R: the journal of injury, function, and rehabilitation 1, 755-768, doi: 10.1016/j.pmrj.2009.04.010 (2009).
-
(2009)
PM & R: The Journal of Injury, Function, and Rehabilitation
, vol.1
, pp. 755-768
-
-
Evans, N.P.1
Misyak, S.A.2
Robertson, J.L.3
Bassaganya-Riera, J.4
Grange, R.W.5
-
18
-
-
0033982278
-
Delay of muscle degeneration and necrosis in mdx mice by calpain inhibition
-
Badalamente, M. A., Stracher, A. Delay of muscle degeneration and necrosis in mdx mice by calpain inhibition. Muscle & nerve 23, 106-111 (2000).
-
(2000)
Muscle & Nerve
, vol.23
, pp. 106-111
-
-
Badalamente, M.A.1
Stracher, A.2
-
19
-
-
60549111210
-
Dominant-negative inhibition of Ca2+ influx via TRPV2 ameliorates muscular dystrophy in animal models
-
Iwata, Y., Katanosaka, Y., Arai, Y., Shigekawa, M., Wakabayashi, S. Dominant-negative inhibition of Ca2+ influx via TRPV2 ameliorates muscular dystrophy in animal models. Human molecular genetics 18, 824-834, doi: 10.1093/hmg/ddn408 (2009).
-
(2009)
Human Molecular Genetics
, vol.18
, pp. 824-834
-
-
Iwata, Y.1
Katanosaka, Y.2
Arai, Y.3
Shigekawa, M.4
Wakabayashi, S.5
-
20
-
-
73149091433
-
Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism
-
Millay, D. P. et al. Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism. Proceedings of the National Academy of Sciences of the United States of America 106, 19023-19028, doi: 10.1073/Pnas.0906591106 (2009).
-
(2009)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, pp. 19023-19028
-
-
Millay, D.P.1
-
21
-
-
0037119993
-
Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers
-
Vandebrouck, C., Martin, D., Schoor, M. C. V., Debaix, H., Gailly, P. Involvement of TRPC in the abnormal calcium influx observed in dystrophic (mdx) mouse skeletal muscle fibers. J Cell Biol 158, 1089-1096, doi: 10.1083/Jcb.200203091 (2002).
-
(2002)
J Cell Biol
, vol.158
, pp. 1089-1096
-
-
Vandebrouck, C.1
Martin, D.2
Schoor, M.C.V.3
Debaix, H.4
Gailly, P.5
-
22
-
-
33748313277
-
New insights in the regulation of calcium transfers by muscle dystrophin-based cytoskeleton: Implications in DMD
-
Constantin, B., Sebille, S., Cognard, C. New insights in the regulation of calcium transfers by muscle dystrophin-based cytoskeleton: implications in DMD. J Muscle Res Cell Motil 27, 375-386, doi: 10.1007/s10974-006-9085-2 (2006).
-
(2006)
J Muscle Res Cell Motil
, vol.27
, pp. 375-386
-
-
Constantin, B.1
Sebille, S.2
Cognard, C.3
-
23
-
-
84878667441
-
Involvement of TRPV2 and SOCE in calcium influx disorder in DMD primary human myotubes with a specific contribution of alpha1-syntrophin and PLC/PKC in SOCE regulation
-
Harisseh, R., Chatelier, A., Magaud, C., Deliot, N., Constantin, B. Involvement of TRPV2 and SOCE in calcium influx disorder in DMD primary human myotubes with a specific contribution of alpha1-syntrophin and PLC/PKC in SOCE regulation. Am J Physiol Cell Physiol 304, C881-894, doi: 10.1152/ajpcell.00182.2012 (2013).
-
(2013)
Am J Physiol Cell Physiol
, vol.304
, pp. C881-894
-
-
Harisseh, R.1
Chatelier, A.2
Magaud, C.3
Deliot, N.4
Constantin, B.5
-
24
-
-
79751535816
-
Duchenne muscular dystrophy-what causes the increased membrane permeability in skeletal muscle?
-
Allen, D. G., Whitehead, N. P. Duchenne muscular dystrophy-what causes the increased membrane permeability in skeletal muscle? Int J Biochem Cell Biol 43, 290-294, doi: 10.1016/j.biocel.2010.11.005 (2011).
-
(2011)
Int J Biochem Cell Biol
, vol.43
, pp. 290-294
-
-
Allen, D.G.1
Whitehead, N.P.2
-
25
-
-
77956278519
-
Promotion of direct reprogramming by transformationdeficient Myc
-
Nakagawa, M., Takizawa, N., Narita, M., Ichisaka, T., Yamanaka, S. Promotion of direct reprogramming by transformationdeficient Myc. Proceedings of the National Academy of Sciences of the United States of America 107, 14152-14157, doi: 10.1073/pnas.1009374107 (2010).
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.107
, pp. 14152-14157
-
-
Nakagawa, M.1
Takizawa, N.2
Narita, M.3
Ichisaka, T.4
Yamanaka, S.5
-
26
-
-
84876544676
-
Efficient and reproducible myogenic differentiation from human iPS cells: Prospects for modeling Miyoshi Myopathy in vitro
-
Tanaka, A. et al. Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. PLoS One 8, e61540, doi: 10.1371/journal.pone.0061540 (2013).
-
(2013)
PLoS One
, vol.8
, pp. e61540
-
-
Tanaka, A.1
-
27
-
-
0024294014
-
MyoD1: A nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts
-
Tapscott, S. J. et al. MyoD1: a nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts. Science 242, 405-411 (1988).
-
(1988)
Science
, vol.242
, pp. 405-411
-
-
Tapscott, S.J.1
-
28
-
-
33747881833
-
Immortalization of human myogenic progenitor cell clone retaining multipotentiality
-
Hashimoto, N. et al. Immortalization of human myogenic progenitor cell clone retaining multipotentiality. Biochemical and biophysical research communications 348, 1383-1388, doi: 10.1016/j.bbrc.2006.08.006 (2006).
-
(2006)
Biochemical and Biophysical Research Communications
, vol.348
, pp. 1383-1388
-
-
Hashimoto, N.1
-
29
-
-
0031566174
-
Fine mapping of five human skeletal muscle genes: Alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast
-
Tiso, N. et al. Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast. Biochemical and biophysical research communications 230, 347-350, doi: 10.1006/bbrc.1996.5958 (1997).
-
(1997)
Biochemical and Biophysical Research Communications
, vol.230
, pp. 347-350
-
-
Tiso, N.1
-
30
-
-
84871742154
-
Characterization of an acute muscle contraction model using cultured C2C12 myotubes
-
Manabe, Y. et al. Characterization of an acute muscle contraction model using cultured C2C12 myotubes. PLoS One 7, e52592, doi: 10.1371/journal.pone.0052592 (2012).
-
(2012)
PLoS One
, vol.7
, pp. e52592
-
-
Manabe, Y.1
-
31
-
-
34748906143
-
Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications
-
Aartsma-Rus, A., Van Ommen, G. J. B. Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications. Rna 13, 1609-1624, doi: 10.1261/Rna.653607 (2007).
-
(2007)
RNA
, vol.13
, pp. 1609-1624
-
-
Aartsma-Rus, A.1
Van Ommen, G.J.B.2
-
32
-
-
80054765584
-
Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system
-
Malueka, R. G. et al. Antisense oligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system. Nucleic acid therapeutics 21, 347-353, doi: 10.1089/nat.2011.0310 (2011).
-
(2011)
Nucleic Acid Therapeutics
, vol.21
, pp. 347-353
-
-
Malueka, R.G.1
-
33
-
-
0038457838
-
A novel mechanism of myocyte degeneration involving the Ca2+ ?permeable growth factor-regulated channel
-
Iwata, Y. et al. A novel mechanism of myocyte degeneration involving the Ca2+ ?permeable growth factor-regulated channel. J Cell Biol 161, 957-967, doi: 10.1083/jcb.200301101 (2003).
-
(2003)
J Cell Biol
, vol.161
, pp. 957-967
-
-
Iwata, Y.1
-
34
-
-
0018076070
-
Characterization of ionomycin as a calcium ionophore
-
Liu, C., Hermann, T. E. Characterization of ionomycin as a calcium ionophore. J Biol Chem 253, 5892-5894 (1978).
-
(1978)
J Biol Chem
, vol.253
, pp. 5892-5894
-
-
Liu, C.1
Hermann, T.E.2
-
35
-
-
66849104240
-
Pharmacology of Vanilloid Transient Receptor Potential Cation Channels
-
Vriens, J., Appendino, G., Nilius, B. Pharmacology of Vanilloid Transient Receptor Potential Cation Channels. Molecular Pharmacology 75, 1262-1279, doi: 10.1124/Mol.109.055624 (2009).
-
(2009)
Molecular Pharmacology
, vol.75
, pp. 1262-1279
-
-
Vriens, J.1
Appendino, G.2
Nilius, B.3
-
36
-
-
0021260779
-
Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle
-
Delaporte, C., Dehaupas, M., Fardeau, M. Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle. Journal of the neurological sciences 64, 149-160 (1984).
-
(1984)
Journal of the Neurological Sciences
, vol.64
, pp. 149-160
-
-
Delaporte, C.1
Dehaupas, M.2
Fardeau, M.3
-
37
-
-
84869089350
-
Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts
-
Cazzella, V. et al. Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Mol Ther 20, 2134-2142, doi: 10.1038/mt.2012.178 (2012).
-
(2012)
Mol Ther
, vol.20
, pp. 2134-2142
-
-
Cazzella, V.1
-
38
-
-
43449113543
-
-
Yokota, T., Duddy, W., Partridge, T. Optimizing exon skipping therapies for DMD. Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology/edited by the Gaetano Conte Academy for the study of striated muscle diseases 26, 179-184 (2007).
-
(2007)
Optimizing Exon Skipping Therapies for DMD. Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology/edited by the Gaetano Conte Academy for the Study of Striated Muscle Diseases
, vol.26
, pp. 179-184
-
-
Yokota, T.1
Duddy, W.2
Partridge, T.3
-
39
-
-
0036087342
-
Function and genetics of dystrophin and dystrophin-related proteins in muscle
-
Blake, D. J., Weir, A., Newey, S. E., Davies, K. E. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews 82, 291-329, doi: 10.1152/physrev.00028.2001 (2002).
-
(2002)
Physiological Reviews
, vol.82
, pp. 291-329
-
-
Blake, D.J.1
Weir, A.2
Newey, S.E.3
Davies, K.E.4
-
40
-
-
34250878976
-
TRP channels in mechanosensation: Direct or indirect activation?
-
Christensen, A. P., Corey, D. P. TRP channels in mechanosensation: direct or indirect activation? Nat Rev Neurosci 8, 510-521, doi: 10.1038/nrn2149 (2007).
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 510-521
-
-
Christensen, A.P.1
Corey, D.P.2
-
41
-
-
79959811808
-
TRP channels in skeletal muscle: Gene expression, function and implications for disease
-
Brinkmeier, H. TRP channels in skeletal muscle: gene expression, function and implications for disease. Advances in experimental medicine and biology 704, 749-758, doi: 10.1007/978-94-007-0265-3-39 (2011).
-
(2011)
Advances in Experimental Medicine and Biology
, vol.704
, pp. 749-758
-
-
Brinkmeier, H.1
-
42
-
-
82455199147
-
Induced pluripotent stem cells-opportunities for disease modelling and drug discovery Nature reviews
-
Grskovic, M., Javaherian, A., Strulovici, B., Daley, G. Q. Induced pluripotent stem cells-opportunities for disease modelling and drug discovery. Nature reviews. Drug discovery 10, 915-929, doi: 10.1038/nrd3577 (2011).
-
(2011)
Drug Discovery
, vol.10
, pp. 915-929
-
-
Grskovic, M.1
Javaherian, A.2
Strulovici, B.3
Daley, G.Q.4
-
43
-
-
36048932015
-
Design of 2?-O-Me RNA/ENA chimera oligonucleotides to induce exon skipping in dystrophin pre-mRNA
-
Takagi, M. et al. Design of 2?-O-Me RNA/ENA chimera oligonucleotides to induce exon skipping in dystrophin pre-mRNA. Nucleic acids symposium series, 297-298, doi: 10.1093/nass/48.1.297 (2004).
-
(2004)
Nucleic Acids Symposium Series
, pp. 297-298
-
-
Takagi, M.1
|