Author

Margherita Marchi

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-5098-8534Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:spatial domain detection· 1 Assay:spatial transcriptomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Andrea BarbieriiD· 1 shared Anna Pérez-GonzáleziD· 1 shared Catharina Gerritdina FaberiD· 1 shared Chiara CalabrettaiD· 1 shared Cinzia M. CagnoliiD· 1 shared Clara Rubio· 1 shared Dalia De SantisiD· 1 shared Enric Pisa· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperNeuroscience

Andrea BarbieriORCID

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2 papers

Recent·Most cited

Different spatial profiles of aberrant N-glycans in pediatric and adult MOGHE brain tissue

Chiara Calabretta, Dalia De Santis, Grace Grimsley, Greta De Cicco, L Rossini, Margherita Marchi, Ilaria D’Amato, Ester Cifaldi, Michele Rizzi, Gianluca Marucci, Laura Tassi, Francesco Cardinale, Francesca Ragona, Roberta Di Giacomo, Niccolò D’Agaro, , Cinzia M. Cagnoli

The paper uses spatial glycomics to show that N-glycan abnormalities in MOGHE are linked to hypomyelination and are more pronounced in pediatric cases.

bioRxiv · Aug 22, 2026 · PreprintNeuroscience

KCNK18 c.1107del frameshift in peripheral neuropathy links TRESK dysfunction to neuropathic pain

Clara Rubio, Milena Ślęczkowska, Enric Pisa, Andrea Barbieri, Anna Pérez-González, Gerard Callejo, Margherita Marchi, Erika Salvi, Grazia Devigili, Janneke G. J. Hoeijmakers, Catharina Gerritdina Faber, Monique M. Gerrits, Hubert J.M. Smeets, Guillaume Sandoz, Xavier Gasull, Núria Comes

The paper identifies a frameshift mutation in KCNK18 causing TRESK dysfunction, linking it to neuropathic pain through haploinsufficiency and altered channel function.

bioRxiv · Dec 10, 2025 · PreprintNeuroscience