Associated Papers
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G et al.
Neuron, 2021
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
Pavone P et al.
Bmj Case Reports, 2013
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
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology, 2003
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