Associated Papers
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Gouiza I et al.
Frontiers in Genetics, 2023
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT et al.
Molecular Genetics and Metabolism, 2019
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development.
Carilla-Latorre S et al.
Molecular Biology of the Cell, 2013
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
Saada A et al.
Journal of Inherited Metabolic Disease, 2012
Mitochondrial disorders caused by mutations in respiratory chain assembly factors.
Diaz F et al.
Seminars in Fetal & Neonatal Medicine, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
20818383 (PubMed )
Supplement: NIHMS228290-supplement-2.xls › per_sample
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
Gerards M et al.
Journal of Medical Genetics, 2010
Select a paper to view details