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Biorxiv : the Preprint Server for Biology|November 19, 2025
Integrative multiomic analysis links TDP-43-driven splicing defects to cascading proteomic disruption of ALS/FTD pathwaysVelina Kozareva, Zhengde Liu, Keyana Blake, et al.Molecular Neurodegeneration|August 22, 2018
Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human diseaseMark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, et al.Human Molecular Genetics|June 23, 2017
Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patientsMercedes Prudencio, Patrick K Gonzales, Casey N Cook, et al.Acta Neuropathologica Communications|July 25, 2022
Evidence of cerebellar TDP-43 loss of function in FTLD-TDPSarah Pickles, Tania F Gendron, Yuka Koike, et al.Biorxiv : the Preprint Server for Biology|January 3, 2024
ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and PeptidomicsZiyi Li, Cory A Weller, Syed Shah, et al.Cell Reports|March 17, 2021
The AD tau core spontaneously self-assembles and recruits full-length tau to filamentsYari Carlomagno, Sireesha Manne, Michael DeTure, et al.HGG Advances|August 28, 2025
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disordersJarosław Dulski, Arun K Boddapati, Barbara Risi, et al.Frontiers in Cell and Developmental Biology|January 31, 2022
HDAC6 Interacts With Poly (GA) and Modulates its Accumulation in c9FTD/ALSGiulia Del Rosso, Yari Carlomagno, Tiffany W Todd, et al.Annals of Neurology|April 9, 2026
Biochemical and Immunohistochemical Associations of TDP-43 and Cryptic RNA With Hippocampal and Amygdala Volumetrics in Alzheimer's DiseaseHossam Youssef, Rodolfo G Gatto, Nikhil B Ghayal, et al.Frontiers in Cell and Developmental Biology|August 24, 2023
CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTDSarah Pickles, Desiree Zanetti Alepuz, Yuka Koike, et al.Pageof 10