prof. dr. Bart Dermaut
- ORCID iD
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0000-0002-6968-0572
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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
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- Journal Article
- A1
- open access
Moyamoya disease emerging as an immune-related angiopathy
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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 -
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
- Journal Article
- A1
- open access
The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects