Reprint
Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
Edited by
November 2021
318 pages
- ISBN978-3-0365-1622-6 (Hardback)
- ISBN978-3-0365-1621-9 (PDF)
This book is a reprint of the Special Issue Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function that was published in
Medicine & Pharmacology
Public Health & Healthcare
Summary
This compilation focuses on recent advances in the molecular and cellular understanding of neuromuscular biology, and the treatment of neuromuscular disease. These advances are at the forefront of modern molecular methodologies, often integrating across wet-lab cell and tissue models, dry-lab computational approaches, and clinical studies. The continuing development and application of multiomics methods offer particular challenges and opportunities in the field, not least in the potential for personalized medicine.
Format
- Hardback
License
© 2022 by the authors; CC BY-NC-ND license
Keywords
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; MND; 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; FSHD; biomarkers; miRNA; proteomics; calprotectin; dystrophy; muscle; Duchenne muscular 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; FSHD; TALEN; CRISPR-Cas9; gene editing; muscle; polyadenylation; D4Z4; DUX4; dystrophinopathy; duchenne muscular dystrophy (DMD); becker muscular dystrophy (BMD); dystrophin; reading frame rule; exon skipping; skip-equivalent deletions; n/a