Author

Pablo Iruzubieta

Biomedical Research Networking Center on Neurodegenerative DiseasesORCID 0000-0003-0331-6222Unclaimed ORCID profile · follow to get notified of new preprints

Additional preprints under this name without ORCID

Pablo Iruzubieta1 paper

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:proteomics· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Adolfo López de MunainiD· 1 shared Alessandro PadovaniiD· 1 shared Anaïs Grosset· 1 shared Andreas ProkopiD· 1 shared Antonio OrlacchioiD· 1 shared Armand HocqueliD· 1 shared Arun Kumar BoddapatiiD· 1 shared Barbara RisiiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperNeuroscience

Adolfo López de MunainORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

NeuroscienceHuman Genetics and Genomics AdvancesPeer-reviewedAug 27, 2025

Targeted plasma proteomics uncover novel proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders

Jarosław Dulski, Arun Kumar Boddapati, Barbara Risi…·Devesh C. Pant

This study identifies novel plasma proteins associated with KIF5A-linked SPG10 and ALS using targeted proteomics, revealing distinct proteomic signatures and potential biomarkers.

DOI 10.1016/j.xhgg.2025.100498

humanproteomics

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Genetic & Genomic MedicineScientific ReportsPeer-reviewedJun 15, 2023

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

Céline Bonnet, David Pellerin, Virginie Roth…·Mathilde Renaud

The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.

69 citationstop 1%

humanDNA methylation

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