Article
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
Nature communications - 28 Feb 2024
Núñez-Carpintero Iker, Rigau Maria, Bosio Mattia, O'Connor Emily, Spendiff Sally, Azuma Yoshiteru, Topf Ana, Thompson Rachel, 't Hoen Peter A C, Chamova Teodora, Tournev Ivailo, Guergueltcheva Velina, Laurie Steven, Beltran Sergi, Capella-Gutiérrez Salvador, Cirillo Davide, Lochmüller Hanns, Valencia Alfonso
Abstract excerpt
Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority neuromuscular junction (NMJ) disorders; yet a molecular explanation for the phenotypic severity differences remains unclear. Here, we present a workflow to explore...
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