The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
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Citations
Cites
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638
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
Brockmann, K., Bjornstad, A., Dechent, P., Korenke, C. G., Smeitink, J., Trijbels, J. M. F., Athanassopoulos, S., Villagran, R., Skjeldal, O. H., Wilichowski, E., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10232 · Cited by 81
Ye, Z., & Connor, J. R. (2000) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2000.3282 · Cited by 20
Cited by
Succinate dehydrogenase – Assembly, regulation and role in human disease
Rutter, J., Winge, D. R., & Schiffman, J. D. (2010) · Mitochondrion · doi:10.1016/j.mito.2010.03.001 · Cited by 462
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
Bardella, C., Pollard, P. J., & Tomlinson, I. (2011) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2011.07.003 · Cited by 395
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas
Welander, J., Söderkvist, P., & Gimm, O. (2011) · Endocrine-Related Cancer · doi:10.1530/erc-11-0170 · Cited by 355
Role of mitochondrial dysfunction in cancer progression
Hsu, C.-C., Tseng, L.-M., & Lee, H.-C. (2016) · Experimental Biology and Medicine · doi:10.1177/1535370216641787 · Cited by 305
Metadata
- Authors
- Ghezzi, D., Goffrini, P., Uziel, G., Horvath, R., Klopstock, T., Lochmüller, H., D'Adamo, P., Gasparini, P., Strom, T. M., Prokisch, H., Invernizzi, F., Ferrero, I., & Zeviani, M.
- Venue
- Nature Genetics
- Published
- 2009-05-24
- Volume
- 41
- Issue
- 6
- Pages
- 654-656
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2029801904
- Cited by
- 246
- References
- 4
- FWCI
- 7.08
- Type
- journal article
- Language
- en
- Open access
- closed
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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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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.
