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Molecular Neurodegeneration|February 1, 2020
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriersJazmyne L Jackson, NiCole A Finch, Matthew C Baker, et al.
Cell Reports|December 22, 2024
Physiological shedding and C-terminal proteolytic processing of TMEM106BSebastian Held, Christian Erck, Susanna Kemppainen, et al.
Biorxiv : the Preprint Server for Biology|April 3, 2026
Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progressionSebastian Michels, Chaorong Chen, Wolfgang P Ruf, et al.
The Journal of Clinical Investigation|June 1, 2026
Multimodal analysis of cell-free DNA identifies epigenetic biomarkers for amyotrophic lateral sclerosis diagnosis and progressionSebastian Michels, Chaorong Chen, Wolfgang P Ruf, et al.
Human Molecular Genetics|March 24, 2017
TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathwayDiane Moujalled, Alexandra Grubman, Karla Acevedo, et al.
Frontiers in Cell and Developmental Biology|April 7, 2022
Plasma PolyQ-ATXN3 Levels Associate With Cerebellar Degeneration and Behavioral Abnormalities in a New AAV-Based SCA3 Mouse ModelKaren Jansen-West, Tiffany W Todd, Lillian M Daughrity, et al.
Brain : a Journal of Neurology|April 12, 2024
Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trialSuma Babu, Katharine A Nicholson, Jeffrey D Rothstein, et al.
Human Molecular Genetics|October 29, 2013
Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiencyWing C Lee, Sandra Almeida, Mercedes Prudencio, et al.
Nature Communications|May 19, 2022
Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTDGopinath Krishnan, Denitza Raitcheva, Daniel Bartlett, et al.
Molecular Neurodegeneration|August 22, 2023
TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brainsVirginia Estades Ayuso, Sarah Pickles, Tiffany Todd, et al.
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