The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
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Cites
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A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.-C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.-M., et al. (1998) · Nature Genetics · doi:10.1038/1765 · Cited by 1,079
Mutant dynactin in motor neuron disease
Puls, I., Jonnakuty, C., LaMonte, B. H., Holzbaur, E. L. F., Tokito, M., Mann, E., Floeter, M. K., Bidus, K., Drayna, D., Oh, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1123 · Cited by 960
Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375039 · Cited by 566
Self-citationOn the role of Hsp27 in regulating apoptosis
Concannon, C. G., Gorman, A. M., & Samali, A. (2003) · Apoptosis · doi:10.1023/a:1021601103096 · Cited by 513
Genealogy of the α-crystallin—small heat-shock protein superfamily
de Jong, W. W., Caspers, G.-J., & Leunissen, J. A. M. (1998) · International Journal of Biological Macromolecules · doi:10.1016/s0141-8130(98)00013-0 · Cited by 487
SDS microslab linear gradient polyacrylamide gel electrophoresis
Matsudaira, P. T., & Burgess, D. R. (1978) · Analytical Biochemistry · doi:10.1016/0003-2697(78)90688-7 · Cited by 459
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The human genome encodes 10 α-crystallin–related small heat shock proteins: HspB1–10
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Cited by
ATP7A-related copper transport diseases—emerging concepts and future trends
Kaler, S. G. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.180 · Cited by 630
Vos, M. J., Hageman, J., Carra, S., & Kampinga, H. H. (2008) · Biochemistry · doi:10.1021/bi800639z · Cited by 391
Carra, S., Seguin, S. J., Lambert, H., & Landry, J. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m706304200 · Cited by 349
Crippa, V., Sau, D., Rusmini, P., Boncoraglio, A., Onesto, E., Bolzoni, E., Galbiati, M., Fontana, E., Marino, M., Carra, S., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq257 · Cited by 330
The small heat shock proteins and their role in human disease
Sun, Y., & MacRae, T. H. (2005) · The FEBS Journal · doi:10.1111/j.1742-4658.2005.04708.x · Cited by 318
Metadata
- Authors
- Irobi, J., Impe, K. V., Seeman, P., Jordanova, A., Dierick, I., Verpoorten, N., Michalik, A., Vriendt, E. D., Jacobs, A., Gerwen, V. V., Vennekens, K., Mazanec, R., Tournev, I., Hilton-Jones, D., Talbot, K., Kremensky, I., Bosch, L. V. D., Robberecht, W., Vandekerckhove, J., Broeckhoven, C. V., Gettemans, J., Jonghe, P. D., & Timmerman, V.
- Venue
- Nature Genetics
- Published
- 2004-05-02
- Volume
- 36
- Issue
- 6
- Pages
- 597-601
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2019313913
- Cited by
- 416
- References
- 21
- FWCI
- 10.93
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. https://app.cochat.ai/papers/10.1038/ng1328
- The paper
- Irobi, J., Impe, K. V., Seeman, P., Jordanova, A., Dierick, I., Verpoorten, N., Michalik, A., Vriendt, E. D., Jacobs, A., Gerwen, V. V., Vennekens, K., Mazanec, R., Tournev, I., Hilton-Jones, D., Talbot, K., Kremensky, I., Bosch, L. V. D., Robberecht, W., Vandekerckhove, J., . . . Timmerman, V. (2004). Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nature Genetics. https://doi.org/10.1038/ng1328
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.