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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
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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.
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Keywords
- -omics approaches
- AAV
- adult patients
- ALS
- ALS genes
- ALS pathology
- ALS variants
- Amyotrophic lateral sclerosis
- Autophagy
- axonal transport
- Becker muscular dystrophy
- becker muscular dystrophy (BMD)
- biomarkers
- calprotectin
- Canadian Neuromuscular Disease Registry
- clinical trials
- comparative genomic hybridization array (CGH)
- corticosteroids
- CRISPR-Cas9
- D4Z4
- deflazacort
- disease heterogeneity
- Disease Models
- disease modifiers
- DMARD
- DMD
- Duchenne muscular dystrophy
- Duchenne muscular dystrophy (DMD)
- DUX4
- dystrophin
- dystrophinopathy
- dystrophy
- Emery–Dreifuss muscular dystrophy
- Endocytosis
- epigenetic changes
- eteplirsen
- excitotoxicity
- exon skipping
- exon skipping therapy
- exon-skipping therapies
- facioscapulohumeral dystrophy
- FSHD
- Functional outcomes
- Gene editing
- gene prioritization
- Gene Therapy
- genetic neuromuscular disorders
- genome-wide association studies
- Genomics
- genotype-phenotype correlations
- genotype–phenotype
- Glucocorticoids
- golodirsen
- GWAS
- LMNA
- Machine learning
- methotrexate
- miRNA
- mitochondria dysfunction
- MND
- multiple logistic regression analysis
- multiplex ligation probe amplification (MLPA)
- multiplex polymerase chain reaction (PCR)
- muscle
- n/a
- neuromuscular diseases
- next-generation sequencing (NGS)
- Nusinersen
- omics
- Oxidative Stress
- pharmacodynamic biomarkers
- Pharmacogenomics
- polyadenylation
- precision medicine
- prednisone
- Proteomics
- reading frame rule
- Reference, information & interdisciplinary subjects
- Régulation
- Research & information: general
- Rheumatoid arthritis
- RNA metabolism
- Safety
- Sanger sequencing
- secretion
- skip-equivalent deletions
- SMA
- SNP
- spinal muscular atrophy
- TALEN
- thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general
- Toxicity
- transcription
- Translational research
- viltolarsen
- XLMTM
Links
DOI: 10.3390/books978-3-0365-1621-9Editions