The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
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Citations
Cites
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786
Cited by
The genetics and pathology of mitochondrial disease
Alston, C. L., Rocha, M. C., Lax, N. Z., Turnbull, D. M., & Taylor, R. W. (2017) · The Journal of Pathology · doi:10.1002/path.4809 · Cited by 451
Understanding mitochondrial complex I assembly in health and disease
Mimaki, M., Wang, X., McKenzie, M., Thorburn, D. R., & Ryan, M. T. (2012) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2011.08.010 · Cited by 420
Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
A role for mitochondrial enzymes in inherited neoplasia and beyond
Eng, C., Kiuru, M., Fernandez, M. J., & Aaltonen, L. A. (2003) · Nature Reviews Cancer · doi:10.1038/nrc1013 · Cited by 392
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease
Distelmaier, F., Koopman, W. J. H., van den Heuvel, L. P., Rodenburg, R. J., Mayatepek, E., Willems, P. H. G. M., & Smeitink, J. A. M. (2008) · Brain · doi:10.1093/brain/awp058 · Cited by 310
Metadata
- Authors
- Bénit, P., Chretien, D., Kadhom, N., de Lonlay-Debeney, P., Cormier-Daire, V., Cabral, A., Peudenier, S., Rustin, P., Munnich, A., & Rötig, A.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-06
- Volume
- 68
- Issue
- 6
- Pages
- 1344-1352
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2094213440
- Cited by
- 262
- References
- 1
- FWCI
- 6.08
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency. https://app.cochat.ai/papers/10.1086/320603
- The paper
- Bénit, P., Chretien, D., Kadhom, N., de Lonlay-Debeney, P., Cormier-Daire, V., Cabral, A., Peudenier, S., Rustin, P., Munnich, A., & Rötig, A. (2001). Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency. The American Journal of Human Genetics. https://doi.org/10.1086/320603
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
