2 documents found, page 1 of 1

Sort by Issue Date

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, F

This 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...


Clinical and Molecular Findings in Four New Patients Harbouring the mtDNA 8993T...

Vilarinho, L; Carrozzo, R; Barbot, C; Calado, E; Tessa, A; Dionisi-Vici, C; Guimarães, A; Santorelli, FM


2 Results

Queried text

Refine Results

Author





















Date



Document Type


Access rights


Resource


Subject