Author

Erika Salvi

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0002-2724-2291Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genomics· 1 Neuroscience· 1

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:GWAS / association mapping· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Afina Willemina LemstraiD· 1 shared Alexis BriceiD· 1 shared Andrea BarbieriiD· 1 shared Andrea CalvoiD· 1 shared Anna Pérez-GonzáleziD· 1 shared Anni K. MooreiD· 1 shared Antonio CanosaiD· 1 shared Bension Shlomo Tilley· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenomics

Afina Willemina LemstraORCID

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2 papers

Recent·Most cited

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

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Ruth Chia, Marya S. Sabir, Sara Bandrés‐Ciga, Sara Sáez-Atiénzar, Regina Hertfelder Reynolds, Emil Karl Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Mónica Díez-Fairén, Makayla K. Portley, Zalak Shah, Yevgeniya A. Abramzon, , Thomas G. Beach

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

bioRxiv · Jul 6, 2020 · PreprintGenomics