Associated Papers
Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.
Cooper-Knock J et al.
Brain Pathology (zurich, Switzerland), 2023
A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Allen SP et al.
Frontiers in Aging Neuroscience, 2023
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.
King A et al.
Acta Neuropathologica Communications, 2015
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