Associated Papers
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes.
Guan J et al.
Brain & Development, 2025
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K et al.
International Journal of Molecular Sciences, 2023
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM et al.
Neuromuscular Disorders : Nmd, 2023
Heterogeneous Nuclear Ribonucleoproteins: Implications in Neurological Diseases.
Low YH et al.
Molecular Neurobiology, 2021
Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.
Cetin H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Congenital myasthenic syndromes.
Finsterer J
Orphanet Journal of Rare Diseases, 2019
Rules and tools to predict the splicing effects of exonic and intronic mutations.
Ohno K et al.
Wiley Interdisciplinary Reviews. Rna, 2018
Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction.
Ohno K et al.
Journal of Neurochemistry, 2017
Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms.
Nazim M et al.
Nucleic Acids Research, 2017
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
Hartung AM et al.
Plos Genetics, 2016
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy.
Chen G et al.
Scientific Reports, 2016
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
Inherited disorders of the neuromuscular junction: an update.
Rodríguez Cruz PM et al.
Journal of Neurology, 2014
Congenital myasthenic syndromes and the neuromuscular junction.
Rodríguez Cruz PM et al.
Current Opinion in Neurology, 2014
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
Nalls MA et al.
Nature Genetics, 2014
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
Rahman MA et al.
Scientific Reports, 2013
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
The HNRNPF/H RNA binding proteins and disease.
Brownmiller T et al.
Wiley Interdisciplinary Reviews. Rna, 0