Bart Dermaut
Public URL
https://biblio.ugent.be/list/vX5WKeL0jKHJxOxom9oyFV6jndjzo
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Multi-omics profiling reveals molecular pathways involved in RNF216-mediated neurodegeneration
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Multi-omics profiling reveals molecular pathways involved in RNF216-mediated neurodegeneration
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- Journal Article
- A1
- open access
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy
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Characterization of RNF213 in antimicrobial defense and Moyamoya disease progression
(2025) -
Shifting the tail of TDP-43 : characterising a novel myopathy-causing TDP-43 variant
(2025) -
Identifying genetic causes of unexplained rare neurological disorders
(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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Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegenerationā
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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354 -
Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)