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

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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HerausgeberIn:
Duguez, Stephanie
Sonstige:
Duddy, William
Duguez, Stephanie
Year of Publication:2021
Language:English
Physical Description:1 electronic resource (318 p.)
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(oapen)https://directory.doabooks.org/handle/20.500.12854/76949
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spelling Duddy, William edt
Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
Understanding Neuromuscular Health and Disease
Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
1 electronic resource (318 p.)
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
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.
English
Research & information: general bicssc
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
3-0365-1622-0
3-0365-1621-2
Duguez, Stephanie edt
Duddy, William oth
Duguez, Stephanie oth
language English
format eBook
author2 Duguez, Stephanie
Duddy, William
Duguez, Stephanie
author_facet Duguez, Stephanie
Duddy, William
Duguez, Stephanie
author2_variant w d wd
s d sd
author2_role HerausgeberIn
Sonstige
Sonstige
title Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
spellingShingle 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_auth Understanding Neuromuscular Health and Disease: Advances in Genetics, Omics, and Molecular Function
title_alt Understanding Neuromuscular Health and Disease
title_new 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
publisher MDPI - Multidisciplinary Digital Publishing Institute
publishDate 2021
physical 1 electronic resource (318 p.)
isbn 3-0365-1622-0
3-0365-1621-2
illustrated Not Illustrated
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