Author
Biomedical Research Networking Center on Neurodegenerative DiseasesORCID 0000-0003-0331-6222Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
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.
Uxoa Fernández‐Pelayo, Mikel Muñoz‐Oreja, Marina Villar-Fernandez…·Ian James Holt
The paper shows that energy scarcity and mitochondrial translation impairment cause ALS-FTD-related proteins to form perinuclear stress granule clusters, potentially leading to pathological inclusions.
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.