The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
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Citations
Cites
Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy
Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440
Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · cited 2×
“…autosomal recessive, with defects described in biotinidase (Baumgartner et al. 1989), pyruvate dehydrogenase complex (PDHc), OXPHOS complex II (Bourgeron et al. 1995), and complex IV (Willems et al. 1977); X-linked recessive, with defects in the E1a subunit of PDHc (Matthews et al. 1993); and…”
BackgroundRobinson, B. H. (1998) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/s0005-2728(98)00033-4 · Cited by 223
Cited by
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060
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
Metadata
- Authors
- Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R., & van den Heuvel, L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1998-12
- Volume
- 63
- Issue
- 6
- Pages
- 1598-1608
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1984296551
- Cited by
- 285
- References
- 4
- FWCI
- 6.53
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome. https://app.cochat.ai/papers/10.1086/302154
- The paper
- Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R., & van den Heuvel, L. (1998). The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome. The American Journal of Human Genetics. https://doi.org/10.1086/302154
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.
