prof. dr. Bart Dermaut
- ORCID iD
- 0000-0002-6968-0572
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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
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- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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- Journal Article
- A1
- open access
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
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- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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- Journal Article
- A1
- open access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
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- Journal Article
- A1
- open access
Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism : possible implication for Alzheimer's disease
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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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Marked hypotonia : an additional feature of ANO3-related movement disorder