Associated Papers
RNA Transcript Diversity in Neuromuscular Research.
Lim WF et al.
Journal of Neuromuscular Diseases, 2023
Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.
Tei S et al.
Biochemical and Biophysical Research Communications, 2015
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.
Bian Y et al.
Human Molecular Genetics, 2009
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
Masuda A et al.
Human Molecular Genetics, 2008
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