Associated Papers
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
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
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.
Schiff M et al.
Plos One, 2011
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Hoefs SJ et al.
Molecular Genetics and Metabolism, 2010
Molecular diagnostics of mitochondrial disorders.
Rötig A et al.
Biochimica Et Biophysica Acta, 2004
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Bénit P et al.
American Journal of Human Genetics, 2001
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