Genetic therapies for inherited neuromuscular disorders.

@article{Scoto2018GeneticTF,
  title={Genetic therapies for inherited neuromuscular disorders.},
  author={Mariacristina Scoto and Richard S. Finkel and Eugenio Mercuri and Francesco Muntoni},
  journal={The Lancet. Child \& adolescent health},
  year={2018},
  volume={2 8},
  pages={
          600-609
        }
}
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies
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This review provides a comprehensive overview of the advanced gene therapies for motor neuron diseases and muscular dystrophies tested in clinical trials and focuses on those methods that are a few steps away from their authoritative approval.
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The most promising findings and up-to-date progress in the discovery of proteins or RNA biomarkers and SNPs acting as genetic modifiers are illustrated in this review.
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Muscular dystrophies are a heterogeneous group of inherited diseases characterized by the progressive degeneration and weakness of skeletal muscles, leading to disability and, often, premature death.
Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.
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This scientific statement outlines current best practices for delivering cardiovascular genetic evaluation and care in both the pediatric and the adult settings, with a focus on team member expertise and conditions that most benefit from genetic evaluation.
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases
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Some mitochondrial routes such as the TCA cycle, OXPHOS, and β-oxidation, recently found to be altered in NMDs are reviewed, with particular attention given to the alterations found in some genes encoding mitochondrial carriers.
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
TLDR
It is shown that TNFRSF10A CT haplotype correlates with corticosteroid response in DMD patients and the genotype is proposed as an exploratory CS response biomarker.
Characteristics and advantages of adeno-associated virus vector-mediated gene therapy for neurodegenerative diseases
TLDR
Adeno-associated virus has been the vector of choice in recent clinical trials of therapies for neurodegenerative diseases due to its safety and efficiency in mediating gene transfer to the central nervous system.
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An overview of the potential for gene therapy of DMD using AAV vectors including a summary of promising developments and issues that need to be resolved prior to large-scale therapeutic implementation is provided.
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