The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase
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Citations
Cites
Clinical and molecular findings in children with complex I deficiency
Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M. A., et al. (2004) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2004.09.006 · Cited by 264
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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
Chinnery, P. F., & Hudson, G. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt017 · Cited by 395
Cytochrome c oxidase dysfunction in oxidative stress
Srinivasan, S., & Avadhani, N. G. (2012) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2012.07.021 · Cited by 373
The clinical maze of mitochondrial neurology
DiMauro, S., Schon, E. A., Carelli, V., & Hirano, M. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.126 · Cited by 353
Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes
Signes, A., & Fernandez-Vizarra, E. (2018) · Essays in Biochemistry · doi:10.1042/ebc20170098 · Cited by 267
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Metadata
- Authors
- Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I., Mereghetti, P., D'Adamo, P., Gasparini, P., & Zeviani, M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-06
- Volume
- 82
- Issue
- 6
- Pages
- 1281-1289
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2019011355
- Cited by
- 198
- References
- 1
- FWCI
- 6.20
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. https://app.cochat.ai/papers/10.1016/j.ajhg.2008.05.002
- The paper
- Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I., Mereghetti, P., D'Adamo, P., Gasparini, P., & Zeviani, M. (2008). Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2008.05.002
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.