,
,
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population, Tina Duong References, vol.1, pp.3175-86, 2009. ,
Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy, Lancet Neurol, vol.15, pp.882-90, 2016. ,
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol, vol.9, pp.77-93, 2010. ,
ENMC International Workshop: newborn screening for Duchenne muscular dystrophy 14-16th, Neuromuscul Disord, vol.23, pp.682-691, 2012. ,
The importance of genetic diagnosis for Duchenne muscular dystrophy, J Med Genet, vol.53, pp.145-51, 2016. ,
Clinical heterogeneity of duchenne muscular dystrophy (DMD): definition of sub-phenotypes and predictive criteria by long-term follow-up, PLoS ONE, vol.4, p.4347, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00447998
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up, J Neurol, vol.258, pp.1610-1633, 2011. ,
The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other, Muscle Nerve, vol.48, pp.55-67, 2013. ,
The 6-minute walk test and person-reported outcomes in boys with duchenne muscular dystrophy and typically developing controls: longitudinal comparisons and clinicallymeaningful changes over one year, PLoS Curr, 2013. ,
THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study, Muscle Nerve, vol.48, pp.343-56, 2013. ,
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study, Muscle Nerve, vol.48, pp.357-68, 2013. ,
Reliability of the north star ambulatory assessment in a multicentric setting, Neuromuscul Disord, vol.19, pp.458-61, 2009. ,
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study, Neurology, vol.77, pp.250-256, 2011. ,
The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials, J Neurol Neurosurg Psychiatry, 2015. ,
Prolonged ambulation in Duchenne patients with a mutation amenable to exon 44 skipping, J Neuromuscul Dis, vol.1, pp.91-94, 2014. ,
Genetic modifiers of ambulation in the cooperative international neuromuscular research group Duchenne natural history study, Ann Neurol, vol.77, pp.684-96, 2015. ,
Biochemical characterization of patients with inframe or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping, JAMA Neurol, vol.71, p.32, 2014. ,
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy, Neurology, vol.76, pp.219-245, 2011. ,
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy, Ann Neurol, vol.73, pp.481-489, 2013. ,
Association study of exon variants in the NF-?B and TGF? pathways identifies CD40 as a modifier of duchenne muscular dystrophy, Am J Hum Genet, vol.99, pp.1163-71, 2016. ,
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy, Neurology, vol.79, pp.159-62, 2012. ,
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants, J Neurol Neurosurg Psychiatry, vol.86, pp.1060-1065, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02436450
Genetic modifiers for neuromuscular diseases, J Neuromuscul Dis, vol.1, pp.3-13, 2014. ,
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy, Ann Neurol, vol.84, pp.234-279, 2018. ,
the next generation in gene variant databases, Hum Mutat, vol.32, pp.557-63, 2011. ,
Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads, Genome Res, vol.21, pp.936-945, 2011. ,
The sequence alignment/Map format and SAMtools, Bioinformatics, vol.25, pp.2078-2087, 2009. ,
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data, Nucleic Acids Res, vol.38, p.164, 2010. ,
A tail strength measure for assessing the overall univariate significance in a dataset, Biostatistics, vol.7, pp.167-81, 2005. ,
Rare-variant association testing for sequencing data with the sequence kernel association test, Am J Hum Genet, vol.89, pp.82-93, 2011. ,
Dynamic parallelization of R functions, R J, vol.5, pp.88-96, 2013. ,
Testing against a high dimensional alternative, J R Stat Soc Ser B, vol.68, pp.477-93, 2006. ,
Multi-omics enrichment analysis using the GeneTrail2 web service, Bioinformatics, vol.32, pp.1502-1510, 2016. ,
The genotype-tissue expression (GTEx) project, Nat Genet, vol.45, p.580, 2013. ,
Integrated interactions database: tissue-specific view of the human and model organism interactomes, Nucleic Acids Res, vol.44, pp.536-577, 2016. ,
SNPSplicer: systematic analysis of SNPdependent splicing in genotyped cDNAs, Hum Mutat, vol.27, pp.1129-1163, 2006. ,
Clinical outcomes in duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database, J Neuromuscul Dis, vol.4, pp.293-306, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01779991
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy, PLoS ONE, vol.14, p.221097, 2019. ,
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis, Nat Genet, vol.44, pp.886-895, 2012. ,
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm, Nat Protoc, vol.4, pp.1073-82, 2009. ,
A method and server for predicting damaging missense mutations, Nat Methods, vol.7, pp.248-257, 2010. ,
Expression Atlas update-A database of gene and transcript expression from microarray-and sequencing-based functional genomics experiments, Nucleic Acids Res, vol.42, 2014. ,
A proteome-scale map of the human interactome network, Cell, vol.159, pp.1212-1238, 2014. ,
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration, Brain, vol.129, pp.996-1013, 2006. ,
Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits, Eur J Hum Genet, pp.952-62, 2019. ,
, Hoffman 8 ? CINRG Investigators ? Zaida Koeks 11 ? H. Eka Suchiman 12 ? Sebahattin Cirak 2,13,14 ? Mariacristina Scoto 2 ? Mojgan Reza 4 ? Peter A. C. 't Hoen 1 ? Erik H, Niks 11 ? Sylvie Tuffery-Giraud 7 ? Hanns Lochmüller 4,15,16 ? Alessandra Ferlini 6 ? Francesco Muntoni 2,17 ? Annemieke Aartsma-Rus, vol.1, p.4