Associated Papers
CRISPR/Cas9 gene editing in muscle-related genetic disorders: Restoring function and exercise capacity.
Wang Y et al.
Tissue & Cell, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646813 (PubMed )
Supplement: media-3.xlsx › Table_S3
A review of recent studies on CRISPR/Cas9-mediated genome editing in a variety of muscle-related genetic disorders.
Lyu G et al.
Journal of Translational Medicine, 2025
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-García J et al.
Molecular Therapy. Nucleic Acids, 2023
LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism.
Costa R et al.
Frontiers in Neurology, 2022
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 Infection.
Diez-Fuertes F et al.
Frontiers in Cell and Developmental Biology, 2022
Inhibition of autophagy rescues muscle atrophy in a LGMDD2 Drosophila model.
Blázquez-Bernal Á et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.
Pegoraro V et al.
Genes, 2021
[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection].
Allamand V
Medecine Sciences : M/s, 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Pál E et al.
European Journal of Medical Genetics, 2019
A new family with transportinopathy: increased clinical heterogeneity.
Angelini C et al.
Therapeutic Advances in Neurological Disorders, 2019
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