Associated Papers
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Moreira JD et al.
Genes, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.
Minoia F et al.
Jimd Reports, 2017
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S et al.
Journal of Inherited Metabolic Disease, 2012
22644603 (PubMed )
Supplement: 10545_2012_9492_MOESM1_ESM.xls › Blad1
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Hoefs SJ et al.
European Journal of Human Genetics : Ejhg, 2011
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