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0000-0001-8082-8462
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Shifting the tail of TDP-43 : characterising a novel myopathy-causing TDP-43 variant
(2025) -
- Journal Article
- A1
- open access
Myopathic aggregation-prone variants in the TDP-43 prion-like domain : genetics paving the way
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- Journal Article
- A1
- open access
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119 -
- Journal Article
- A1
- open access
Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions