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

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...

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Korporace:	Duddy, William, Duguez, Stephanie
Médium:	Livro
Jazyk:	Inglês
Vydáno:	MDPI - Multidisciplinary Digital Publishing Institute 2021
Témata:	thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and 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
On-line přístup:	https://directory.doabooks.org/handle/20.500.12854/76949
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Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function

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