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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31.
Acta Neuropathol. 2023.
PMID: 37000196
Free PMC article.
Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.
Versluys L, Ervilha Pereira P, Schuermans N, De Paepe B, De Bleecker JL, Bogaert E, Dermaut B.
Versluys L, et al. Among authors: ervilha pereira p.
Front Neurosci. 2022 Feb 3;16:815765. doi: 10.3389/fnins.2022.815765. eCollection 2022.
Front Neurosci. 2022.
PMID: 35185458
Free PMC article.
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