LEADER 04944nam 2201501z- 450 001 9910557669103321 005 20220111 035 $a(CKB)5400000000044814 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/76949 035 $a(oapen)doab76949 035 $a(EXLCZ)995400000000044814 100 $a20202201d2021 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aUnderstanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2021 215 $a1 online resource (318 p.) 311 08$a3-0365-1622-0 311 08$a3-0365-1621-2 330 $aThis compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine. 517 $aUnderstanding Neuromuscular Health and Disease 606 $aResearch & information: general$2bicssc 610 $a-omics approaches 610 $aAAV 610 $aadult patients 610 $aALS 610 $aALS genes 610 $aALS pathology 610 $aALS variants 610 $aAmyotrophic Lateral Sclerosis 610 $aautophagy 610 $aaxonal transport 610 $aBecker muscular dystrophy 610 $abecker muscular dystrophy (BMD) 610 $abiomarkers 610 $acalprotectin 610 $aCanadian Neuromuscular Disease Registry 610 $aclinical trials 610 $acomparative genomic hybridization array (CGH) 610 $acorticosteroids 610 $aCRISPR-Cas9 610 $aD4Z4 610 $adeflazacort 610 $adisease heterogeneity 610 $adisease models 610 $adisease modifiers 610 $aDMARD 610 $aDMD 610 $aDuchenne muscular dystrophy 610 $aduchenne muscular dystrophy (DMD) 610 $aDuchenne muscular dystrophy (DMD) 610 $aDUX4 610 $adystrophin 610 $adystrophinopathy 610 $adystrophy 610 $aEmery-Dreifuss muscular dystrophy 610 $aendocytosis 610 $aepigenetic changes 610 $aeteplirsen 610 $aexcitotoxicity 610 $aexon skipping 610 $aexon skipping therapy 610 $aexon-skipping therapies 610 $afacioscapulohumeral dystrophy 610 $aFSHD 610 $afunctional outcomes 610 $agene editing 610 $agene prioritization 610 $agene therapy 610 $agenetic neuromuscular disorders 610 $agenome-wide association studies 610 $agenomics 610 $agenotype-phenotype 610 $agenotype-phenotype correlations 610 $aglucocorticoids 610 $agolodirsen 610 $aGWAS 610 $aLMNA 610 $amachine learning 610 $amethotrexate 610 $amiRNA 610 $amitochondria dysfunction 610 $aMND 610 $amultiple logistic regression analysis 610 $amultiplex ligation probe amplification (MLPA) 610 $amultiplex polymerase chain reaction (PCR) 610 $amuscle 610 $an/a 610 $aneuromuscular diseases 610 $anext-generation sequencing (NGS) 610 $aNusinersen 610 $aOmics 610 $aoxidative stress 610 $apharmacodynamic biomarkers 610 $apharmacogenomics 610 $apolyadenylation 610 $aprecision medicine 610 $aprednisone 610 $aproteomics 610 $areading frame rule 610 $aregulation 610 $arheumatoid arthritis 610 $aRNA metabolism 610 $asafety 610 $aSanger sequencing 610 $asecretion 610 $askip-equivalent deletions 610 $aSMA 610 $aSNP 610 $aspinal muscular atrophy 610 $aTALEN 610 $atoxicity 610 $atranscription 610 $atranslational research 610 $aviltolarsen 610 $aXLMTM 615 7$aResearch & information: general 700 $aDuddy$b William$4edt$01323704 702 $aDuguez$b Stephanie$4edt 702 $aDuddy$b William$4oth 702 $aDuguez$b Stephanie$4oth 906 $aBOOK 912 $a9910557669103321 996 $aUnderstanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function$93035745 997 $aUNINA