LEADER 04907nam 2201477z- 450 001 9910557669103321 005 20231214133630.0 035 $a(CKB)5400000000044814 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/76949 035 $a(EXLCZ)995400000000044814 100 $a20202201d2021 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aUnderstanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function 210 $aBasel, Switzerland$cMDPI - Multidisciplinary Digital Publishing Institute$d2021 215 $a1 electronic resource (318 p.) 311 $a3-0365-1622-0 311 $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 $aLMNA 610 $aEmery-Dreifuss muscular dystrophy 610 $aOmics 610 $aALS 610 $aMND 610 $aALS variants 610 $agenotype-phenotype 610 $aALS genes 610 $aFSHD 610 $aDUX4 610 $atranscription 610 $amuscle 610 $aregulation 610 $aspinal muscular atrophy 610 $aadult patients 610 $adisease heterogeneity 610 $aNusinersen 610 $adisease modifiers 610 $afunctional outcomes 610 $abiomarkers 610 $aepigenetic changes 610 $a-omics approaches 610 $aoxidative stress 610 $amitochondria dysfunction 610 $aaxonal transport 610 $aautophagy 610 $aendocytosis 610 $asecretion 610 $aexcitotoxicity 610 $aRNA metabolism 610 $aDuchenne muscular dystrophy (DMD) 610 $aexon-skipping therapies 610 $anext-generation sequencing (NGS) 610 $aSanger sequencing 610 $amultiplex ligation probe amplification (MLPA) 610 $amultiplex polymerase chain reaction (PCR) 610 $acomparative genomic hybridization array (CGH) 610 $aviltolarsen 610 $aeteplirsen 610 $agolodirsen 610 $arheumatoid arthritis 610 $aSNP 610 $aDMARD 610 $amethotrexate 610 $apharmacogenomics 610 $aDuchenne muscular dystrophy 610 $apharmacodynamic biomarkers 610 $aprednisone 610 $adeflazacort 610 $aglucocorticoids 610 $acorticosteroids 610 $asafety 610 $aneuromuscular diseases 610 $atranslational research 610 $adisease models 610 $aprecision medicine 610 $amiRNA 610 $aproteomics 610 $acalprotectin 610 $adystrophy 610 $aBecker muscular dystrophy 610 $adystrophinopathy 610 $agenotype-phenotype correlations 610 $aCanadian Neuromuscular Disease Registry 610 $areading frame rule 610 $adystrophin 610 $amultiple logistic regression analysis 610 $aexon skipping therapy 610 $aAmyotrophic Lateral Sclerosis 610 $amachine learning 610 $agenome-wide association studies 610 $aGWAS 610 $agenomics 610 $aALS pathology 610 $agene prioritization 610 $aAAV 610 $agenetic neuromuscular disorders 610 $agene therapy 610 $aclinical trials 610 $atoxicity 610 $aSMA 610 $aDMD 610 $aXLMTM 610 $afacioscapulohumeral dystrophy 610 $aTALEN 610 $aCRISPR-Cas9 610 $agene editing 610 $apolyadenylation 610 $aD4Z4 610 $aduchenne muscular dystrophy (DMD) 610 $abecker muscular dystrophy (BMD) 610 $aexon skipping 610 $askip-equivalent deletions 615 7$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