2 documents found, page 1 of 1
LYRM7 Mutations Cause a Multifocal Cavitating Leukoencephalopathy with Distinct...
Dallabona, C; Abbink, TEM; Carrozzo, R; Torraco, A; Legati, A; van Berkel, CGM; Niceta, M; Langella, T; Verrigni, D; Rizza, T; Diodato, D; Piemonte, FThis study focused on the molecular characterization of patients with leukoencephalopathy associated with a specific biochemical defect of mitochondrial respiratory chain complex III, and explores the impact of a distinct magnetic resonance imaging pattern of leukoencephalopathy to detect biallelic mutations in LYRM7 in patients with biochemically unclassified leukoencephalopathy. 'Targeted resequencing' of a c...
Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotype...
Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, MThe type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demo...