Associated Papers
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
Abu Hanna F et al.
Orphanet Journal of Rare Diseases, 2024
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal.
Subrahmanian N et al.
Brain Research, 2021
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
Understanding mitochondrial complex I assembly in health and disease.
Mimaki M et al.
Biochimica Et Biophysica Acta, 2012
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Pagniez-Mammeri H et al.
Molecular Genetics and Metabolism, 2012
The unique neuroradiology of complex I deficiency due to NDUFA12L defect.
Barghuti F et al.
Molecular Genetics and Metabolism, 2008
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