Pontus LeBlanc
No current affiliation with UGent
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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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
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 -
- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)