Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

• अन्य लेखक: Duddy, William (संपादक), Duguez, Stephanie (संपादक)
• स्वरूप: इलेक्ट्रोनिक पुस्तक अध्याय
• भाषा: अंग्रेज़ी
• प्रकाशित: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
• विषय: Research & information: general; LMNA; Emery-Dreifuss muscular dystrophy; Omics; ALS; MND; ALS variants; genotype-phenotype; ALS genes; FSHD; DUX4; transcription; muscle; regulation; spinal muscular atrophy; adult patients; disease heterogeneity; Nusinersen; disease modifiers; functional outcomes; biomarkers; epigenetic changes; -omics approaches; oxidative stress; mitochondria dysfunction; axonal transport; autophagy; endocytosis; secretion; excitotoxicity; RNA metabolism; Duchenne muscular dystrophy (DMD); exon-skipping therapies; next-generation sequencing (NGS); Sanger sequencing; multiplex ligation probe amplification (MLPA); multiplex polymerase chain reaction (PCR); comparative genomic hybridization array (CGH); viltolarsen; eteplirsen; golodirsen; rheumatoid arthritis; SNP; DMARD; methotrexate; pharmacogenomics; Duchenne muscular dystrophy; pharmacodynamic biomarkers; prednisone; deflazacort; glucocorticoids; corticosteroids; safety; neuromuscular diseases; translational research; disease models; precision medicine; miRNA; proteomics; calprotectin; dystrophy; Becker muscular dystrophy; dystrophinopathy; genotype-phenotype correlations; Canadian Neuromuscular Disease Registry; reading frame rule; dystrophin; multiple logistic regression analysis; exon skipping therapy; Amyotrophic Lateral Sclerosis; machine learning; genome-wide association studies; GWAS; genomics; ALS pathology; gene prioritization; AAV; genetic neuromuscular disorders; gene therapy; clinical trials; toxicity; SMA; DMD; XLMTM; facioscapulohumeral dystrophy; TALEN; CRISPR-Cas9; gene editing; polyadenylation; D4Z4; duchenne muscular dystrophy (DMD); becker muscular dystrophy (BMD); exon skipping; skip-equivalent deletions; n/a
• ऑनलाइन पहुंच: DOAB: download the publication; DOAB: description of the publication

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 computati...