Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals, Cell, vol.50, issue.3, pp.509-526, 1987. ,
DOI : 10.1016/0092-8674(87)90504-6
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion, Am J Hum Genet, vol.45, pp.498-506, 1989. ,
Prevalence and incidence of Becker muscular dystrophy, The Lancet, vol.337, issue.8748, pp.1022-1026, 1991. ,
DOI : 10.1016/0140-6736(91)92671-N
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule, Muscle & Nerve, vol.56, issue.2, pp.135-179, 2006. ,
DOI : 10.1002/mus.20586
A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy, Neuromuscular Disorders, vol.24, issue.6, pp.482-91, 2014. ,
DOI : 10.1016/j.nmd.2014.03.008
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies, Am J Hum Genet, vol.49, pp.54-67, 1991. ,
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy, Journal of Neurology, vol.120, issue.2, pp.98-104, 1993. ,
DOI : 10.1007/BF00858725
Clinical variability in Becker muscular dystrophy Genetic, biochemical and immunohistochemical correlates, Brain, vol.117, issue.1, pp.117-118, 1994. ,
DOI : 10.1093/brain/117.1.1-a
The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia, The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia, pp.1449-57, 2013. ,
DOI : 10.1002/humu.22390
Cardiac involvement in becker muscular dystrophy, Journal of the American College of Cardiology, vol.22, issue.7, pp.1927-1961, 1993. ,
DOI : 10.1016/0735-1097(93)90781-U
Cardiac involvement in Becker muscular dystrophy, Canadian Journal of Cardiology, vol.24, issue.10, pp.786-92, 2008. ,
DOI : 10.1016/S0828-282X(08)70686-X
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy Cardiac assessment in duchenne and becker muscular dystrophies, Circ Cardiovasc Genet Romfh, A. and McNally, E.M. Curr Heart Fail Rep, vol.2, issue.7, pp.544-51, 2009. ,
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein, Cell, vol.53, issue.2, pp.219-226, 1988. ,
DOI : 10.1016/0092-8674(88)90383-2
Dystrophin: More than just the sum of its parts, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, vol.1804, issue.9, pp.1713-1722, 2010. ,
DOI : 10.1016/j.bbapap.2010.05.001
URL : https://hal.archives-ouvertes.fr/hal-00592430
Computational Study of the Human Dystrophin Repeats: Interaction Properties and Molecular Dynamics, PLoS ONE, vol.40, issue.8, p.23819, 2011. ,
DOI : 10.1371/journal.pone.0023819.s010
URL : https://hal.archives-ouvertes.fr/inserm-00689190
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase, Human Mutation, vol.23, issue.6, pp.934-979, 2009. ,
DOI : 10.1002/humu.20976
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 Journal of Rare Diseases, vol.7, issue.1, p.45, 2012. ,
DOI : 10.1016/S1525-1578(10)60560-0
URL : https://hal.archives-ouvertes.fr/inserm-00736304
Hybrid spectrin type repeats produced by exon-skipping in dystrophin, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, vol.1764, issue.6, pp.993-999, 2006. ,
DOI : 10.1016/j.bbapap.2006.03.017
Optimizing exon skipping therapies for DMD, Acta myologica, vol.26, pp.179-184, 2007. ,
Recognition of errors in three-dimensional structures of proteins, Proteins: Structure, Function, and Genetics, vol.177, issue.4, pp.355-62, 1993. ,
DOI : 10.1002/prot.340170404
The Crystal Structures of Dystrophin and Utrophin Spectrin Repeats: Implications for Domain Boundaries, PLoS ONE, vol.390, issue.7, p.40066, 2012. ,
DOI : 10.1371/journal.pone.0040066.s003
Mapping of the Lipid-Binding and Stability Properties of the Central Rod Domain of Human Dystrophin, Journal of Molecular Biology, vol.389, issue.3, pp.546-558, 2009. ,
DOI : 10.1016/j.jmb.2009.04.025
URL : https://hal.archives-ouvertes.fr/inserm-00404317
Sub-domains of the dystrophin rod domain display contrasting lipid-binding and stability properties, Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics, vol.1784, issue.4, pp.672-682, 2008. ,
DOI : 10.1016/j.bbapap.2007.12.014
URL : https://hal.archives-ouvertes.fr/hal-00457831
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up, Journal of Neurology, vol.4, issue.9, pp.1610-1633, 2011. ,
DOI : 10.1007/s00415-011-5979-z
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials, Brain, vol.134, issue.12, pp.3544-56, 2011. ,
DOI : 10.1093/brain/awr291
New developments in the use of gene therapy to treat Duchenne muscular dystrophy, Expert Opinion on Biological Therapy, vol.60, issue.5, pp.209-239, 2014. ,
DOI : 10.1002/humu.20918
Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?, Neuromuscular Disorders, vol.24, issue.6, pp.463-466, 2014. ,
DOI : 10.1016/j.nmd.2014.03.007
Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy, J Neurol Sci J Neurol Neurosurg Psychiatry, vol.132, issue.85, pp.146-55, 1995. ,
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities Dystrophin levels and clinical severity in Becker muscular dystrophy patients, J Neurol J.J. J Neurol Neurosurg Psychiatry, vol.240, issue.85, pp.105-117, 1993. ,
Dystrophin analysis in clinical trials, J Neuromuscul Dis, vol.1, issue.34, pp.41-53, 2014. ,
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human, Neuromuscular Disorders, vol.17, issue.11-12, pp.913-921, 2007. ,
DOI : 10.1016/j.nmd.2007.07.005
Analysis of Dystrophin Gene Deletions Indicates that the Hinge III Region of the Protein Correlates with Disease Severity, Annals of Human Genetics, vol.10, issue.3, pp.253-262, 2005. ,
DOI : 10.1046/J.1469-1809.2005.00160.x
Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy, Nature Medicine, vol.8, issue.3, pp.253-261, 2002. ,
DOI : 10.1038/nm0302-253
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin, Nature, vol.343, issue.6254, pp.180-182, 1990. ,
DOI : 10.1038/343180a0
Long-term expression of full-length human dystrophin in transgenic mdx mice expressing internally deleted human dystrophins, Gene Therapy, vol.11, issue.11, pp.884-93, 2004. ,
DOI : 10.1038/sj.gt.3302242
Mini-dystrophin efficiently incorporates into the dystrophin protein complex in living cells, Journal of Muscle Research and Cell Motility, vol.74, issue.1, pp.53-67, 2006. ,
DOI : 10.1007/s10974-006-9055-8
Sustained AAV-mediated dystrophin expression in a canine model of Duchenne muscular dystrophy with a brief course of immunosuppression Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin Genetic therapeutic approaches for Duchenne muscular dystrophy, Mol Ther Hum Mol Genet, vol.15, issue.23, pp.1160-1166, 2007. ,
Internal deletion compromises the stability of dystrophin, Human Molecular Genetics, vol.20, issue.15, pp.2955-63, 2011. ,
DOI : 10.1093/hmg/ddr199
Dystrophin and utrophin: the missing links! FEBS Letters, pp.27-33, 1995. ,
Dystrophin protects the sarcolemma from stresses developed during muscle contraction., Proceedings of the National Academy of Sciences, vol.90, issue.8, pp.3710-3714, 1993. ,
DOI : 10.1073/pnas.90.8.3710
Pathophysiology of Duchenne Muscular Dystrophy: Current Hypotheses, Pediatric Neurology, vol.36, issue.1, pp.1-7, 2007. ,
DOI : 10.1016/j.pediatrneurol.2006.09.016
The spectrin family of proteins: A unique coiled-coil fold for various molecular surface properties, Journal of Structural Biology, vol.186, issue.3, pp.392-401, 2014. ,
DOI : 10.1016/j.jsb.2014.03.011
URL : https://hal.archives-ouvertes.fr/hal-01020693
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients, Neuromuscular Disorders, vol.20, issue.4, pp.251-255, 2010. ,
DOI : 10.1016/j.nmd.2010.01.013
A Cluster of Basic Repeats in the Dystrophin Rod Domain Binds F-actin through an Electrostatic Interaction, Journal of Biological Chemistry, vol.273, issue.43, pp.28419-28423, 1998. ,
DOI : 10.1074/jbc.273.43.28419
Dystrophin, its interactions with other proteins, and implications for muscular dystrophy, Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, vol.1772, issue.2, pp.108-125, 2006. ,
DOI : 10.1016/j.bbadis.2006.05.010
URL : https://hal.archives-ouvertes.fr/hal-00562718
Deletion of exon 16 of the dystrophin gene is not associated with disease Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype, Hum Mutat Acta Myol, vol.28, issue.30, pp.182-186, 2007. ,
Dystrophins carrying spectrin-like repeats 16, 2009. ,
Molecular Clues about the Dystrophin???Neuronal Nitric Oxide Synthase Interaction: A Theoretical Approach, Biochemistry, vol.52, issue.44, pp.7777-84, 2013. ,
DOI : 10.1021/bi400794p
URL : https://hal.archives-ouvertes.fr/hal-00935150
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, Human Mutation, vol.18, issue.Web Server issu, pp.196-202, 2007. ,
DOI : 10.1002/humu.20428
URL : https://hal.archives-ouvertes.fr/inserm-00381940
Variable phenotype of del45-55 Becker patients correlated with nNOS?? mislocalization and RYR1 hypernitrosylation, Human Molecular Genetics, vol.21, issue.15, pp.3449-60, 2012. ,
DOI : 10.1093/hmg/dds176
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort, Human Mutation, vol.23, issue.12, pp.1657-1666, 2009. ,
DOI : 10.1002/humu.21114
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy, EMBO reports, vol.119, issue.2, pp.136-177, 2011. ,
DOI : 10.1161/CIRCRESAHA.108.183426
URL : https://hal.archives-ouvertes.fr/pasteur-00976757
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy, Neuromuscular Disorders, vol.10, issue.8, pp.572-579, 2000. ,
DOI : 10.1016/S0960-8966(00)00150-4
Myoferlin, a candidate gene and potential modifier of muscular dystrophy, Human Molecular Genetics, vol.9, issue.2, pp.217-243, 2000. ,
DOI : 10.1093/hmg/9.2.217
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy, Neurology, vol.76, issue.3, pp.219-245, 2011. ,
DOI : 10.1212/WNL.0b013e318207afeb
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy, Neurology, vol.79, issue.2, pp.159-62, 2012. ,
DOI : 10.1212/WNL.0b013e31825f04ea
Antisense-mediated modulation of splicing: Therapeutic implications for Duchenne muscular dystrophy, RNA Biology, vol.7, issue.4, pp.453-61, 2010. ,
DOI : 10.4161/rna.7.4.12264
Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches, Discov Med Nat Rev Genet, vol.16, issue.14, pp.233-242, 2013. ,
Cholesterol favors the anchorage of human dystrophin repeats 16 to 21 in membrane at physiological surface pressure, Biochimica et Biophysica Acta (BBA) - Biomembranes, vol.1838, issue.5, pp.1266-73, 2014. ,
DOI : 10.1016/j.bbamem.2014.01.010
URL : https://hal.archives-ouvertes.fr/hal-00965782
Electrostatics of nanosystems: Application to microtubules and the ribosome, Proceedings of the National Academy of Sciences, vol.98, issue.18, pp.10037-10078, 2001. ,
DOI : 10.1073/pnas.181342398
Estimation of hominoid phylogeny from a DNA hybridization data set, Journal of Molecular Evolution, vol.3, issue.1-2, pp.123-154, 1987. ,
DOI : 10.1007/BF02111286
Scalable molecular dynamics with NAMD, Journal of Computational Chemistry, vol.84, issue.16, pp.1781-802, 2005. ,
DOI : 10.1002/jcc.20289
All-atom empirical force field for nucleic acids: I. Parameter optimization based on small molecule and condensed phase macromolecular target data, Journal of Computational Chemistry, vol.7, issue.2, pp.86-104, 2000. ,
DOI : 10.1002/(SICI)1096-987X(20000130)21:2<86::AID-JCC2>3.0.CO;2-G
All-atom empirical force field for nucleic acids: II. Application to molecular dynamics simulations of DNA and RNA in solution, Journal of Computational Chemistry, vol.6, issue.2, pp.105-120, 2000. ,
DOI : 10.1002/(SICI)1096-987X(20000130)21:2<105::AID-JCC3>3.0.CO;2-P
Extending the treatment of backbone energetics in protein force fields: Limitations of gas-phase quantum mechanics in reproducing protein conformational distributions in molecular dynamics simulations, Journal of Computational Chemistry, vol.44, issue.Pt 6 Pt 1, pp.1400-1415, 2004. ,
DOI : 10.1002/jcc.20065
Molecular Lipophilicity in Protein Modeling and Drug Design, Current Medicinal Chemistry, vol.14, issue.4, pp.393-415, 2007. ,
DOI : 10.2174/092986707779941050
PLATINUM: a web tool for analysis of hydrophobic/hydrophilic organization of biomolecular complexes, Bioinformatics, vol.25, issue.9, pp.1201-1203, 1995. ,
DOI : 10.1093/bioinformatics/btp111
A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin, Journal of Biological Chemistry, vol.284, issue.13, pp.8822-8832, 2009. ,
DOI : 10.1074/jbc.M805846200
URL : https://hal.archives-ouvertes.fr/inserm-00365879
Multiplex Western Blotting System for the Analysis of Muscular Dystrophy Proteins, The American Journal of Pathology, vol.154, issue.4, pp.1017-1039, 1999. ,
DOI : 10.1016/S0002-9440(10)65354-0