The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy
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A comprehensive genetic map of the human genome based on 5,264 microsatellites
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Biochemical and molecular investigations in respiratory chain deficiencies
Rustin, P., Chretien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J. M., & Munnich, A. (1994) · Clinica Chimica Acta · doi:10.1016/0009-8981(94)90055-8 · Cited by 1,243
Self-citationZhu, Z., Yao, J., Johns, T., Fu, K., Bie, I. D., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J.-C., Chevrette, M., et al. (1998) · Nature Genetics · doi:10.1038/3804 · Cited by 623
Papadopoulou, L. C., Sue, C. M., Davidson, M. M., Tanji, K., Nishino, I., Sadlock, J. E., Krishna, S., Walker, W., Selby, J., Glerum, D. M., et al. (1999) · Nature Genetics · doi:10.1038/15513 · Cited by 573
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
Leonard, J., & Schapira, A. (2000) · The Lancet · doi:10.1016/s0140-6736(99)05225-3 · Cited by 363
Glerum, D. M., Shtanko, A., & Tzagoloff, A. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.34.20531 · Cited by 323
Valnot, I. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.8.1245 · Cited by 304
Self-citationCytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease
Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, A., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, N., et al. (1998) · Annals of Neurology · doi:10.1002/ana.410430119 · Cited by 245
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Mitochondrial defects in cardiomyopathy and neuromuscular disease
Wallace, D. C. (2000) · American Heart Journal · doi:10.1067/mhj.2000.103934 · Cited by 208
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Molecular mechanisms of copper uptake and distribution
Puig, S., & Thiele, D. J. (2002) · Current Opinion in Chemical Biology · doi:10.1016/s1367-5931(02)00298-3 · Cited by 719
AIF deficiency compromises oxidative phosphorylation
Vahsen, N., Candé, C., Brière, J., Bénit, P., Joza, N., Larochette, N., Mastroberardino, P. G., Pequignot, M. O., Casares, N., Lazar, V., et al. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600461 · Cited by 623
Self-citationMitochondrial DNA mutations in human colonic crypt stem cells
Taylor, R. W., Barron, M. J., Borthwick, G. M., Gospel, A., Chinnery, P. F., Samuels, D. C., Taylor, G. A., Plusa, S. M., Needham, S. J., Greaves, L. C., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci19435 · Cited by 530
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
A role for mitochondrial enzymes in inherited neoplasia and beyond
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Metadata
- Authors
- Valnot, I., Osmond, S., Gigarel, N., Mehaye, B., Amiel, J., Cormier-Daire, V., Munnich, A., Bonnefont, J.-P., Rustin, P., & Rötig, A.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-11
- Volume
- 67
- Issue
- 5
- Pages
- 1104-1109
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2058697823
- Cited by
- 351
- References
- 30
- FWCI
- 8.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy. https://app.cochat.ai/papers/10.1016/s0002-9297(07)62940-1
- The paper
- Valnot, I., Osmond, S., Gigarel, N., Mehaye, B., Amiel, J., Cormier-Daire, V., Munnich, A., Bonnefont, J.-P., Rustin, P., & Rötig, A. (2000). Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy. The American Journal of Human Genetics. https://doi.org/10.1016/s0002-9297(07)62940-1
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.
