Associated Papers
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 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
From phosphorylation to phenotype - Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase MuSK.
Prömer J et al.
Cellular Signalling, 2023
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G et al.
Neuron, 2021
A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.
Xing G et al.
Elife, 2019
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Burns DT et al.
American Journal of Human Genetics, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
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
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Cossins J et al.
Brain : a Journal of Neurology, 2006
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.
Ohno K et al.
Journal of Medical Genetics, 2004
Common founder effect of rapsyn N88K studied using intragenic markers.
Dunne V et al.
Journal of Human Genetics, 2004
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology, 2003
Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
Maselli RA et al.
Muscle & Nerve, 2003
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
Müller JS et al.
Neurology, 2003
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Ohno K et al.
Human Molecular Genetics, 2003
Congenital myasthenic syndromes: progress over the past decade.
Engel AG et al.
Muscle & Nerve, 2003
Identification of pathogenic mutations in the human rapsyn gene.
Dunne V et al.
Journal of Human Genetics, 2003
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
Ohno K et al.
American Journal of Human Genetics, 2002
The spectrum of congenital myasthenic syndromes.
Engel AG et al.
Molecular Neurobiology, 0
Congenital myasthenic syndromes: A diverse array of molecular targets.
Engel AG et al.
Journal of Neurocytology, 0