ENMC International Workshop: newborn screening for Duchenne muscular dystrophy, Neuromuscul Disord, vol.23, pp.682-691, 2012. ,
Dystrophin: the protein product of the Duchenne muscular dystrophy locus, Cell, vol.51, pp.919-947, 1987. ,
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management, Lancet Neurol, vol.17, pp.251-67, 2018. ,
Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), J Pediatr, vol.155, pp.380-385, 2009. ,
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: critical issues and areas for improvements, Neuromuscul Disord, vol.27, pp.447-51, 2017. ,
European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences, J Neuromuscul Dis, vol.3, pp.517-544, 2016. ,
DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study, Neurology, vol.87, pp.401-410, 2016. ,
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review, Arch Dis Child, vol.99, pp.1074-1081, 2014. ,
Diagnostic delay in Duchenne's muscular dystrophy, JAMA, vol.247, pp.478-80, 1982. ,
Diagnosis of Duchenne muscular dystrophy: experiences of parents of sufferers, Br Med J (Clin Res Ed), vol.286, pp.700-701, 1983. ,
The importance of genetic diagnosis for Duchenne muscular dystrophy, J Med Genet, vol.53, pp.145-51, 2016. ,
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies, Neuromuscul Disord, vol.20, pp.422-429, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-02446658
Clinical consensus statement development manual, Otolaryngol Head Neck Surg, vol.153, pp.1-14, 2015. ,
Grades of recommendation for antithrombotic agents, Chest, vol.114, pp.441-444, 1998. ,
GRADE: going from evidence to recommendations, BMJ, vol.336, pp.1049-51, 2008. ,
GRADE: an emerging consensus on rating quality of evidence and strength of recommendations, BMJ, vol.336, pp.924-930, 2008. ,
GRADE: what is "quality of evidence" and why is it important to clinicians?, BMJ, vol.336, pp.995-1003, 2008. ,
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol, vol.9, pp.77-93, 2010. ,
A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy, Eur J Hum Genet, vol.23, pp.1294-300, 2015. ,
Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy, J Clin Neurosci, vol.20, pp.1099-105, 2013. ,
Genetic and clinical profile of patients of Duchenne muscular dystrophy: experience from a tertiary care center in Eastern India, Indian Pediatr, vol.52, pp.481-485, 2015. ,
Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy, Genet Med, vol.13, pp.942-949, 2011. ,
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up, J Neurol, vol.258, pp.1610-1633, 2011. ,
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations, Dev Med Child Neurol, vol.58, pp.77-84, 2016. ,
Growth and psychomotor development of patients with Duchenne muscular dystrophy, Eur J Paediatr Neurol, vol.18, pp.38-44, 2014. ,
Assessing mental health in boys with Duchenne muscular dystrophy: emotional, behavioural and neurodevelopmental profile in an Italian clinical sample, Eur J Paediatr Neurol, vol.21, pp.639-686, 2017. ,
Secondary conditions among males with Duchenne or Becker muscular dystrophy, J Child Neurol, vol.32, pp.663-70, 2017. ,
Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis, J Pediatr, vol.165, pp.1008-1018, 2014. ,
Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review, Neurosci Biobehav Rev, vol.37, pp.743-52, 2013. ,
Implicit learning deficit in children with Duchenne muscular dystrophy: evidence for a cerebellar cognitive impairment?, PLoS ONE, vol.13, p.191164, 2018. ,
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives, Arq Neuropsiquiatr, vol.75, pp.104-117, 2017. ,
Serum enzyme changes in muscle disease and their relation to tissue change, Proc R Soc Med, vol.56, pp.179-82, 1963. ,
Recent advances in the management of Duchenne muscular dystrophy, Arch Dis Child, vol.100, pp.1173-1180, 2015. ,
Microarray-based mutation detection in the dystrophin gene, Hum Mutat, vol.29, pp.1091-1100, 2008. ,
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations, Hum Mutat, vol.36, pp.395-402, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01681769
DMD mutations in 576 dystrophinopathy families: a step forward in genotype-phenotype correlations, PLoS ONE, vol.10, p.135189, 2015. ,
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies, Muscle Nerve, vol.56, pp.117-138, 2017. ,
Deletion and duplication screening in the DMD gene using MLPA, Eur J Hum Genet, vol.13, pp.1231-1235, 2005. ,
A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study, Neurol India, vol.63, pp.58-62, 2015. ,
Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods, Genet Test Mol Biomarkers, vol.15, p.893, 2011. ,
Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification, Neurol India, vol.59, pp.803-812, 2011. ,
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies, BMC Genomics, vol.9, p.572, 2008. ,
Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4, Neuromuscul Disord, vol.21, pp.178-82, 2011. ,
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene, Eur J Hum Genet, vol.20, pp.1096-100, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-02444080
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy, J Hum Genet, vol.59, pp.454-64, 2014. ,
Normal and altered pre-mRNA processing in the DMD gene, Hum Genet, vol.136, pp.1155-72, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01760830
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis, Clin Chim Acta, vol.448, pp.146-155, 2015. ,
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the dystrophin gene detected by direct sequencing, BMC Med Genet, vol.12, p.37, 2011. ,
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361 + 1G>A mutation identified by NGS, J Hum Genet, vol.62, pp.531-538, 2017. ,
Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype, Clin Chem Lab Med, vol.54, pp.1435-1475, 2016. ,
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms, Mol Genet Genomic Med, vol.2, pp.539-586, 2014. ,
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?, Hum Mutat, vol.32, pp.467-75, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00621292
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient, Mol Genet Genomic Med, vol.3, pp.320-326, 2015. ,
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy, Neuromuscul Disord, vol.27, pp.631-635, 2017. ,
Genetics and managed care: policy statement of the American College of Medical Genetics, Genet Med, vol.3, pp.430-435, 2001. ,
Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem, Genet Med, vol.7, pp.605-615, 2005. ,
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, pp.405-429, 2015. ,
The current status of medical genetics instruction in US and Canadian medical schools, Acad Med, vol.82, pp.441-446, 2007. ,
Retention of medical genetics knowledge and skills by medical students, Genet Med, vol.11, pp.365-70, 2009. ,
Attitudes and practices among internists concerning genetic testing, J Genet Couns, vol.22, pp.90-100, 2013. ,
A "neglected part of the curriculum" or "of limited use"? Views on genetics training by nongenetics medical trainees and implications for delivery, Genet Med, vol.8, pp.109-124, 2006. ,
Differential use of available genetic tests among primary care physicians in the United States: results of a national survey, Genet Med, vol.10, pp.404-418, 2008. ,
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients, J Hum Genet, vol.59, pp.46-50, 2014. ,
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?, Clin Genet, vol.79, pp.236-278, 2011. ,
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy, Orphanet J Rare Dis, vol.7, p.82, 2012. ,
Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy, Pediatr Neurol, vol.55, pp.58-63, 2016. ,
Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy, Muscle Nerve, vol.55, pp.810-818, 2017. ,
Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging, Eur Radiol, vol.25, pp.3066-72, 2015. ,
Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study, Eur Heart J Cardiovasc Imaging, vol.17, pp.326-359, 2016. ,
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy, Neuromuscul Disord, vol.26, pp.860-864, 2016. ,
Parents' communication with siblings of children affected by an inherited genetic condition, J Genet Couns, vol.20, pp.374-83, 2011. ,
Dystrophinopathy in isolated cases of myopathy in females, Neurology, vol.42, pp.967-75, 1992. ,
Outdated risk assessment in a family with Duchenne dystrophy: implications for duty to reassess, Neurol Genet, vol.2, p.103, 2016. ,
Extended family impact of genetic testing: the experiences of X-linked carrier grandmothers, J Genet Couns, vol.20, pp.365-73, 2011. ,
Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies, Muscle Nerve, vol.57, pp.6-15, 2018. ,
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype, Muscle Nerve, vol.55, pp.46-50, 2017. ,
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy, PLoS ONE, vol.5, p.8803, 2010. ,
Ocular and neurodevelopmental features of Duchenne muscular THE JOURNAL OF PEDIATRICS ? www, vol.204 ,
, dystrophy: a signature of dystrophin function in the central nervous system, Eur J Hum Genet, vol.24, pp.562-570, 2016.
Prolonged ambulation in Duchenne patients with a mutation amenable to exon 44 skipping, J Neuromuscul Dis, vol.1, pp.91-95, 2014. ,
Genetic modifiers of Duchenne muscular dystrophy and dilated cardiomyopathy, PLoS ONE, vol.10, p.141240, 2015. ,
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy, Am J Med Genet A, vol.164, pp.2769-74, 2014. ,
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age, Eur J Hum Genet, vol.21, pp.855-63, 2013. ,
Myocardial fibrosis and left ventricular dysfunction in Duchenne muscular dystrophy carriers using cardiac magnetic resonance imaging, Pediatr Cardiol, vol.36, pp.1495-501, 2015. ,
Phenotypic contrasts of Duchenne muscular dystrophy in women: two case reports, Sleep Sci, vol.9, pp.129-162, 2016. ,
Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers, J Cardiol Cases, vol.11, pp.7-9, 2015. ,
Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy, Heart Lung Circ, vol.22, pp.677-81, 2013. ,
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy, Am J Med Genet A, vol.155, pp.3025-3034, 2011. ,
Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI, Circulation, vol.121, pp.237-246, 2010. ,
Cardiac involvement in a female carrier of Duchenne muscular dystrophy, Int J Cardiol, vol.138, pp.302-307, 2010. ,
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?, Clin Genet, vol.83, pp.187-90, 2013. ,
Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene, Genet Test Mol Biomarkers, vol.18, pp.93-100, 2014. ,
Identification of de novo mutations of Duchenne/Becker muscular dystrophies in southern Spain, Int J Med Sci, vol.11, pp.988-93, 2014. ,
De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy, Int J Hematol, vol.99, pp.184-191, 2014. ,
A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family, Genet Couns, vol.25, pp.429-461, 2014. ,
Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: a case report, Medicine (Baltimore), vol.96, p.8814, 2017. ,
Evidence-based path to newborn screening for Duchenne muscular dystrophy, Ann Neurol, vol.71, pp.304-317, 2012. ,
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK), Eur J Hum Genet, vol.21, pp.1049-53, 2013. ,
Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment, World J Pediatr, vol.13, pp.197-201, 2017. ,
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy, Muscle Nerve, vol.49, pp.822-830, 2014. ,
Framing optional genetic testing in the context of mandatory newborn screening tests, BMC Med Inform Decis Mak, vol.15, p.50, 2015. ,
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy, Eur J Hum Genet, vol.21, pp.21-27, 2013. ,
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy, Prenat Diagn, vol.37, pp.356-64, 2017. ,
Approach to asymptomatic creatine kinase elevation, Cleve Clin J Med, vol.83, pp.37-42, 2016. ,
, EBI Search: gene & protein summary for dystrophin, 2018.
Risk assessment and genetic counseling in families with Duchenne muscular dystrophy, Acta Myol, vol.31, pp.179-83, 2012. ,
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center, J Hum Genet, vol.55, pp.379-88, 2010. ,
Mutation spectrum of dystrophin gene in Malaysian patients with Duchenne/Becker muscular dystrophy, J Neurogenet, vol.27, pp.11-16, 2013. ,
MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy, Neurol Neurochir Pol, vol.48, pp.416-438, 2014. ,
Genetic profile of Brazilian patients with dystrophinopathies, Clin Genet, vol.92, pp.199-203, 2017. ,
Prevalence and genetic profile of Duchene and Becker muscular dystrophy in Puerto Rico, J Neuromuscul Dis, vol.3, pp.261-267, 2016. ,
Chromosomal rearrangements. In: Modern genetic analysis, 1999. ,
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy, Mol Genet Genomics, vol.289, pp.1013-1034, 2014. ,
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing, Sci Transl Med, vol.9, p.5209, 2017. ,
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne natural history study, Ann Neurol, vol.77, pp.684-96, 2015. ,
Grades of recommendation for antithrombotic agents, Chest, vol.114, pp.441-444, 1998. ,
GRADE: going from evidence to recommendations, BMJ, vol.336, pp.1049-51, 2008. ,
GRADE: an emerging consensus on rating quality of evidence and strength of recommendations, BMJ, vol.336, pp.924-930, 2008. ,
GRADE: what is "quality of evidence" and why is it important to clinicians?, BMJ, vol.336, pp.995-1003, 2008. ,
Delayed diagnosis in Duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), J Pediatr, vol.155, pp.380-385, 2009. ,
A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy, Eur J Hum Genet, vol.23, pp.1294-300, 2015. ,
Improving recognition of Duchenne muscular dystrophy: a retrospective case note review, Arch Dis Child, vol.99, pp.1074-1081, 2014. ,
Clinical, immunohistochemical, Western blot, and genetic analysis in dystrophinopathy, J Clin Neurosci, vol.20, pp.1099-105, 2013. ,
Genetic and clinical profile of patients of Duchenne muscular dystrophy: experience from a tertiary care center in Eastern India, Indian Pediatr, vol.52, pp.481-485, 2015. ,
Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy, Genet Med, vol.13, pp.942-949, 2011. ,
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations, Dev Med Child Neurol, vol.58, pp.77-84, 2016. ,
Growth and psychomotor development of patients with Duchenne muscular dystrophy, Eur J Paediatr Neurol, vol.18, pp.38-44, 2014. ,
Secondary conditions among males with Duchenne or Becker muscular dystrophy, J Child Neurol, vol.32, pp.663-70, 2017. ,
Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis, J Pediatr, vol.165, pp.1008-1018, 2014. ,
Implicit learning deficit in children with Duchenne muscular dystrophy: evidence for a cerebellar cognitive impairment?, PLoS ONE, vol.13, p.191164, 2018. ,
Assessing mental health in boys with Duchenne muscular dystrophy: emotional, behavioural and neurodevelopmental profile in an Italian clinical sample, Eur J Paediatr Neurol, vol.21, pp.639-686, 2017. ,
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up, J Neurol, vol.258, pp.1610-1633, 2011. ,
Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review, Neurosci Biobehav Rev, vol.37, pp.743-52, 2013. ,
Serum enzyme changes in muscle disease and their relation to tissue change, Proc R Soc Med, vol.56, pp.179-82, 1963. ,
Recent advances in the management of Duchenne muscular dystrophy, Arch Dis Child, vol.100, pp.1173-1180, 2015. ,
European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences, J Neuromuscul Dis, vol.3, pp.517-544, 2016. ,
The importance of genetic diagnosis for Duchenne muscular dystrophy, J Med Genet, vol.53, pp.145-51, 2016. ,
Translarna? summary of product characteristics, 2018. ,
, EXONDYS 51? (eteplirsen) injection label. Highlights of prescribing information, 2018.
, FDA News Release: FDA grants accelerated approval to first drug for Duchenne muscular dystrophy, 2018.
, Leiden Open Variation Database (LOVD). www.dmd.nl, 2018.
, The UMD TREAT-NMD DMD mutations database, 2018.
, Institute of Medical Genetics in Cardiff. The Human Gene Mutation Database, 2018.
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies, Neuromuscul Disord, vol.20, pp.422-429, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-02446658
Deletion and duplication screening in the DMD gene using MLPA, Eur J Hum Genet, vol.13, pp.1231-1235, 2005. ,
A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study, Neurol India, vol.63, pp.58-62, 2015. ,
Dystrophin gene mutation analysis in Iranian males and females using multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification methods, Genet Test Mol Biomarkers, vol.15, pp.893-902, 2011. ,
Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligationdependent probe amplification, Neurol India, vol.59, pp.803-812, 2011. ,
Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing, Gene, vol.645, pp.113-121, 2018. ,
Pitfalls of multiple ligation-dependent probe amplifications in detecting DMD exon deletions or duplications, J Mol Diagn, vol.18, pp.253-262, 2016. ,
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy, J Hum Genet, vol.59, pp.454-64, 2014. ,
Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives, Arq Neuropsiquiatr, vol.75, pp.104-117, 2017. ,
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies, BMC Genomics, vol.9, p.572, 2008. ,
Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4, Neuromuscul Disord, vol.21, pp.178-82, 2011. ,
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene, Eur J Hum Genet, vol.20, pp.1096-100, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-02444080
Microarray-based mutation detection in the dystrophin gene, Hum Mutat, vol.29, pp.1091-1100, 2008. ,
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol, vol.9, pp.77-93, 2010. ,
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management, Lancet Neurol, vol.17, pp.251-67, 2018. ,
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy, Mol Genet Genomics, vol.289, pp.1013-1034, 2014. ,
Implementation of a reliable next-generation sequencing strategy for molecular diagnosis of dystrophinopathies, J Mol Diagn, vol.18, pp.731-771, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01844590
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations, Hum Mutat, vol.36, pp.395-402, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01681769
Next generation sequencing for molecular diagnosis of neuromuscular diseases, Acta Neuropathol, vol.124, pp.273-83, 2012. ,
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform, J Med Genet, vol.48, pp.731-737, 2011. ,
Rapid direct sequence analysis of the dystrophin gene, Am J Hum Genet, vol.72, pp.931-940, 2003. ,
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study, Eur J Hum Genet, vol.22, pp.110-118, 2014. ,
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis, Clin Chim Acta, vol.448, pp.146-155, 2015. ,
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the dystrophin gene detected by direct sequencing, BMC Med Genet, vol.12, p.37, 2011. ,
Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361 + 1G>A mutation identified by NGS, J Hum Genet, vol.62, pp.531-538, 2017. ,
Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype, Clin Chem Lab Med, vol.54, pp.1435-1475, 2016. ,
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms, Mol Genet Genomic Med, vol.2, pp.539-586, 2014. ,
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations?, Hum Mutat, vol.32, pp.467-75, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00621292
Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy, Neuromuscul Disord, vol.27, pp.631-635, 2017. ,
Normal and altered pre-mRNA processing in the DMD gene, Hum Genet, vol.136, pp.1155-72, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-01760830
Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient, Mol Genet Genomic Med, vol.3, pp.320-326, 2015. ,
, The International Laboratory Accreditation Cooperation (ILAC), 2018.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, pp.405-429, 2015. ,
A "neglected part of the curriculum" or "of limited use"? Views on genetics training by nongenetics medical trainees and implications for delivery, Genet Med, vol.8, pp.109-124, 2006. ,
Attitudes and practices among internists concerning genetic testing, J Genet Couns, vol.22, pp.90-100, 2013. ,
Extended family impact of genetic testing: the experiences of X-linked carrier grandmothers, J Genet Couns, vol.20, pp.365-73, 2011. ,
Parents' communication with siblings of children affected by an inherited genetic condition, J Genet Couns, vol.20, pp.374-83, 2011. ,
DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study, Neurology, vol.87, pp.401-410, 2016. ,
Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne natural history study, Ann Neurol, vol.77, pp.684-96, 2015. ,
Prolonged ambulation in Duchenne patients with a mutation amenable to exon 44 skipping, J Neuromuscul Dis, vol.1, pp.91-95, 2014. ,
Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene, Genet Test Mol Biomarkers, vol.18, pp.93-100, 2014. ,
Identification of de novo mutations of Duchenne/Becker muscular dystrophies in southern Spain, Int J Med Sci, vol.11, pp.988-93, 2014. ,
De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy, Int J Hematol, vol.99, pp.184-191, 2014. ,
A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family, Genet Couns, vol.25, pp.429-461, 2014. ,
Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: a case report, Medicine (Baltimore), vol.96, p.8814, 2017. ,
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy, Orphanet J Rare Dis, vol.7, p.82, 2012. ,
Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy, Pediatr Neurol, vol.55, pp.58-63, 2016. ,
Phenotypic contrasts of Duchenne muscular dystrophy in women: two case reports, Sleep Sci, vol.9, pp.129-162, 2016. ,
Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions, Neuromuscul Disord, vol.27, pp.569-73, 2017. ,
Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy, Am J Med Genet A, vol.164, pp.2769-74, 2014. ,
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age, Eur J Hum Genet, vol.21, pp.855-63, 2013. ,
Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study, Eur Heart J Cardiovasc Imaging, vol.17, pp.326-359, 2016. ,
Myocardial fibrosis and left ventricular dysfunction in Duchenne muscular dystrophy carriers using cardiac magnetic resonance imaging, Pediatr Cardiol, vol.36, pp.1495-501, 2015. ,
Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers, J Cardiol Cases, vol.11, pp.7-9, 2015. ,
Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging, Eur Radiol, vol.25, pp.3066-72, 2015. ,
Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy, Heart Lung Circ, vol.22, pp.677-81, 2013. ,
Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy, Am J Med Genet A, vol.155, pp.3025-3034, 2011. ,
Images in cardiovascular medicine. Cardiomyopathy in a Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI, Circulation, vol.121, pp.237-246, 2010. ,
Cardiac involvement in a female carrier of Duchenne muscular dystrophy, Int J Cardiol, vol.138, pp.302-307, 2010. ,
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?, Clin Genet, vol.79, pp.236-278, 2011. ,
Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy, Neuromuscul Disord, vol.26, pp.860-864, 2016. ,
Outdated risk assessment in a family with Duchenne dystrophy: implications for duty to reassess, Neurol Genet, vol.2, p.103, 2016. ,
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?, Clin Genet, vol.83, pp.187-90, 2013. ,
, DecodeDuchenne-frequently asked questions, 2018.
ENMC International Workshop: newborn screening for Duchenne muscular dystrophy, Neuromuscul Disord, vol.23, pp.682-691, 2012. ,
Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK), Eur J Hum Genet, vol.21, pp.1049-53, 2013. ,
Evidence-based path to newborn screening for Duchenne muscular dystrophy, Ann Neurol, vol.71, pp.304-317, 2012. ,
Clinical follow-up for Duchenne muscular dystrophy newborn screening: a proposal, Muscle Nerve, vol.54, pp.186-91, 2016. ,
Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment, World J Pediatr, vol.13, pp.197-201, 2017. ,
Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy, Muscle Nerve, vol.49, pp.822-830, 2014. ,
Framing optional genetic testing in the context of mandatory newborn screening tests, BMC Med Inform Decis Mak, vol.15, p.50, 2015. ,
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy, Prenat Diagn, vol.37, pp.356-64, 2017. ,
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy, Eur J Hum Genet, vol.21, pp.21-27, 2013. ,
Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics, Eur J Hum Genet, vol.17, pp.720-721, 2008. ,
Early prednisone treatment in Duchenne muscular dystrophy, Muscle Nerve, vol.27, pp.222-229, 2003. ,
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up, Muscle Nerve, vol.45, pp.796-802, 2012. ,