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Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis : results from the MYONET registry
(2024) RHEUMATOLOGY. -
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Neonatal lactic acidosis explained by LARS2 defect
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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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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
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Organic osmolytes and Duchenne muscular dystrophy : from homeostasis, inflammation and skeletal muscle regeneration to therapeutic target
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Diagnose en subtypering van myositis op basis van cytokine profielen : hoe wetenschappelijke inzichten langzaam de weg kunnen vinden naar de kliniek
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Mammalian target of rapamycin inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells
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Retrospective study shows that serum levels of chemokine CXCL10 and cytokine GDF15 support a diagnosis of sporadic inclusion body myositis and immune-mediated necrotizing myopathy
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Identification of novel associations and localization of signals in idiopathic inflammatory myopathies using genome‐wide imputation
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Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions