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British Journal of Sports Medicine, ISSN 0306-3674, 12/2007, Volume 41, Issue 12, pp. 852 - 861
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2011, Volume 378, Issue 9791, pp. 595 - 605
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 12/2015, Volume 100, Issue 12, pp. 1173 - 1177
Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder of childhood and mainly affects males. Over the course of the last century,... 
DIAGNOSIS | THERAPY | SAFETY | PEDIATRICS | PREVALENCE | NATURAL-HISTORY | ATALUREN | BURDEN | DRISAPERSEN | Long-Term Care - methods | Humans | Parents | Male | Disease Management | Muscular Dystrophy, Duchenne - therapy | Child | Muscular Dystrophy, Duchenne - diagnosis | Practice | Care and treatment | Children | Health aspects | Duchenne muscular dystrophy | Pediatricians
Journal Article
Journal Article
BMC musculoskeletal disorders, ISSN 1471-2474, 05/2013, Volume 14, Issue S2, pp. O12 - O12
Journal Article
Lancet neurology, ISSN 1474-4422, 2009, Volume 8, Issue 10, pp. 918 - 928
Journal Article
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 6, p. e0198897
... Coursindel 3, Mike J. Gait 3, Matthew J. Wood 2, Guy A. MacGowan 1,4, Volker W. Straub 1 Introduction Duchenne muscular dystrophy (DMD) is a degenerative genetic muscle... 
TOXICOLOGY EVALUATION | MORPHOLINO OLIGOMER | THERAPY | GENE | MULTIDISCIPLINARY SCIENCES | HEART-FAILURE | CARDIOMYOPATHY | MICE | RESTORATION | Heart - physiopathology | Morpholinos - therapeutic use | Heart Failure - physiopathology | Exons - genetics | Muscular Dystrophy, Duchenne - complications | Heart Failure - prevention & control | Cell-Penetrating Peptides - therapeutic use | Animals | Muscular Dystrophy, Duchenne - physiopathology | Myocardium - metabolism | Mice, Inbred mdx | Mice | Muscular Dystrophy, Duchenne - genetics | Dystrophin - metabolism | Heart Failure - etiology | Frameshift Mutation - genetics | Disease Models, Animal | Heart failure | Complications and side effects | Prognosis | Duchenne muscular dystrophy | Physiological aspects | Genetic aspects | Research | Dystrophin | Risk factors | Heart | Animal models | Peptides | Laboratories | Cardiomyopathy | Clinical trials | Muscular dystrophy | Restoration | Rodents | Exon skipping | Duchenne's muscular dystrophy | Genetics | Physiology | Age | Medical research | Phenotypes | Cardiac muscle | Medical instruments | Muscles | Anatomy & physiology | Patients | Molecular chains | Catheters | Resistance | Medicine | Magnetic resonance imaging | Councils | Conductance | Mutation | Dystrophy | Ventricle | Antisense DNA | Molecular biology | Antisense
Journal Article
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 395 - 402
Journal Article