Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Source
Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs
Source
Experimental and molecular medicine - ISSN 2092-6413- (2024) p. 1-17
Spectrinopathies in rare neurological and neuromuscular diseases : large-scale efforts towards the identification of novel molecular causes
Source
Antwerpen, Universiteit Antwerpen, Faculteit Geneeskunde en Gezondheidswetenschappen, 2024,105 p.
The metabolic and lipidomic fingerprint of Torin1 exposure in mouse embryonic fibroblasts using untargeted metabolomics
Source
Metabolites - ISSN 2218-1989-14:5 (2024) p. 1-16
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias
Source
Trends in neurosciences - ISSN 1878-108X-47:3 (2024) p. 227-238