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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
Late-onset Pompe disease (LOPD) in Belgium : clinical characteristics and outcome measures
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Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity
(2007) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 104(37). p.14825-14830 -
Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.
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Exclusion of the beta '-COP gene and identification of a novel candidate gene for the blepharophimosis syndrome (BPES)
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Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA(Ser(UCN)) gene
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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment
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A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24
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Het Scheldevalleiproject : een cultuurhistorisch-geografische benadering
(1992)