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Palabras clave – provistas por la editorial

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