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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Low gene copy numbers of complement C4 and complement C4A deficiency are strong and highly significant genetic risk factors for idiopathic inflammatory myopathy and its major subgroups
(2023) CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. In Clinical and Experimental Rheumatology 41(2). p.416-416 -
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Neonatal lactic acidosis explained by LARS2 defect
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- Journal Article
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Urine lactate concentration as a non-invasive screener for metabolic abnormalities : findings in children with autism spectrum disorder and regression
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Osmolyten als ondersteunende therapie voor Duchenne musculaire dystrofie : het potentieel van taurine en ectoïne als voedingssupplement
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Exploring the therapeutic potential of ectoine in Duchenne Muscular Dystrophy : comparison with taurine, a supplement with known beneficial effects in the mdx mouse
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Expanded phenotyping by microscopic imaging
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- Conference Paper
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Description of osmolyte pathways in maturing MDX mice reveals altered taurine and sodium/myo-inositol co-transporter levels
(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S302-S302 -
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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
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Inducible heat shock protein 70 levels in patients and the mdx mouse affirm regulation during skeletal muscle regeneration in muscular dystrophy