Associated Papers
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT et al.
Clinical Genetics, 2024
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2024
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Zhuo X et al.
Plos One, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf
No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.
Parvizi Omran S et al.
Iranian Journal of Child Neurology, 2019
Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
Estephan EP et al.
Neuromuscular Disorders : Nmd, 2018
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.
Imperatore V et al.
International Journal of Molecular Sciences, 2016
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.
Natera-de Benito D et al.
Neuromuscular Disorders : Nmd, 2016
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M et al.
Neurology, 2009
Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Beeson D et al.
Annals of the New York Academy of Sciences, 2008
Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
Richard P et al.
Journal of Medical Genetics, 2003
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