04944nam 2201501z- 450 991055766910332120220111(CKB)5400000000044814(oapen)https://directory.doabooks.org/handle/20.500.12854/76949(oapen)doab76949(EXLCZ)99540000000004481420202201d2021 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierUnderstanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular FunctionBasel, SwitzerlandMDPI - Multidisciplinary Digital Publishing Institute20211 online resource (318 p.)3-0365-1622-0 3-0365-1621-2 This 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.Understanding Neuromuscular Health and DiseaseResearch & information: generalbicssc-omics approachesAAVadult patientsALSALS genesALS pathologyALS variantsAmyotrophic Lateral Sclerosisautophagyaxonal transportBecker muscular dystrophybecker muscular dystrophy (BMD)biomarkerscalprotectinCanadian Neuromuscular Disease Registryclinical trialscomparative genomic hybridization array (CGH)corticosteroidsCRISPR-Cas9D4Z4deflazacortdisease heterogeneitydisease modelsdisease modifiersDMARDDMDDuchenne muscular dystrophyduchenne muscular dystrophy (DMD)Duchenne muscular dystrophy (DMD)DUX4dystrophindystrophinopathydystrophyEmery-Dreifuss muscular dystrophyendocytosisepigenetic changeseteplirsenexcitotoxicityexon skippingexon skipping therapyexon-skipping therapiesfacioscapulohumeral dystrophyFSHDfunctional outcomesgene editinggene prioritizationgene therapygenetic neuromuscular disordersgenome-wide association studiesgenomicsgenotype-phenotypegenotype-phenotype correlationsglucocorticoidsgolodirsenGWASLMNAmachine learningmethotrexatemiRNAmitochondria dysfunctionMNDmultiple logistic regression analysismultiplex ligation probe amplification (MLPA)multiplex polymerase chain reaction (PCR)musclen/aneuromuscular diseasesnext-generation sequencing (NGS)NusinersenOmicsoxidative stresspharmacodynamic biomarkerspharmacogenomicspolyadenylationprecision medicineprednisoneproteomicsreading frame ruleregulationrheumatoid arthritisRNA metabolismsafetySanger sequencingsecretionskip-equivalent deletionsSMASNPspinal muscular atrophyTALENtoxicitytranscriptiontranslational researchviltolarsenXLMTMResearch & information: generalDuddy Williamedt1323704Duguez StephanieedtDuddy WilliamothDuguez StephanieothBOOK9910557669103321Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function3035745UNINA