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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| Format: | Online |
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| Idioma: | anglès |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Accés en línia: | ONIX_20220111_9783036516226_781 |
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| _version_ | 1869516651823628288 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-76949 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-769492024-03-27T16:34:25Z Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function Duddy, William Duguez, Stephanie 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general 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. 2022-01-11T13:47:22Z 2022-01-11T13:47:22Z 2021 book ONIX_20220111_9783036516226_781 9783036516226 9783036516219 https://directory.doabooks.org/handle/20.500.12854/76949 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/4540 https://mdpi.com/books/pdfview/book/4540 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-1621-9 10.3390/books978-3-0365-1621-9 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036516226 9783036516219 318 Basel, Switzerland open access |
| spellingShingle | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title | Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title_full | Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title_fullStr | Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title_full_unstemmed | Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title_short | Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function |
| title_sort | understanding neuromuscular health and disease advances in genetics omics and molecular function |
| topic | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general |
| topic_facet | 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 thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general |
| url | ONIX_20220111_9783036516226_781 |