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Science (New York, N.Y.)|February 16, 2019
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicityYong-Jie Zhang, Lin Guo, Patrick K Gonzales, et al.
Nature|February 24, 2022
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13AX Rosa Ma, Mercedes Prudencio, Yuka Koike, et al.
Science (New York, N.Y.)|August 13, 2016
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcriptsNicholas J Kramer, Yari Carlomagno, Yong-Jie Zhang, et al.
Nature Neuroscience|November 1, 2025
TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTDBrian J Joseph, Kelly A Marshall, Peter Harley, et al.
Science Translational Medicine|January 17, 2024
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementiaJordan D Marks, Virginia Estades Ayuso, Yari Carlomagno, et al.
Biorxiv : the Preprint Server for Biology|February 7, 2023
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTDSahba Seddighi, Yue A Qi, Anna-Leigh Brown, et al.
The Journal of Clinical Investigation|August 14, 2020
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementiaMercedes Prudencio, Jack Humphrey, Sarah Pickles, et al.
Science Translational Medicine|January 26, 2024
Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTDSahba Seddighi, Yue A Qi, Anna-Leigh Brown, et al.
Biorxiv : the Preprint Server for Biology|April 3, 2026
Neurodegeneration risk variants promote lysosomal TMEM106B fibril accumulationJohn Michael Replogle, Jordan D Marks, Martin G Fernandez, et al.
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