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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
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Citations
Cited by
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Proteostasis impairment in protein-misfolding and -aggregation diseases
Hipp, M. S., Park, S.-H., & Hartl, F. U. (2014) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.05.003 · Cited by 663
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration
Lee, J. W., Beebe, K., Nangle, L. A., Jang, J., Longo-Guess, C. M., Cook, S. A., Davisson, M. T., Sundberg, J. P., Schimmel, P., & Ackerman, S. L. (2006) · Nature · doi:10.1038/nature05096 · Cited by 592
Protein Folding in the Endoplasmic Reticulum
Braakman, I., & Hebert, D. N. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a013201 · Cited by 571
Endoplasmic reticulum stress in health and disease
Zhao, L., & Ackerman, S. L. (2006) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2006.06.005 · Cited by 440
Metadata
- Authors
- Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L. M., Schröder, J. M., Lochmüller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., & Zerres, K.
- Venue
- Nature Genetics
- Published
- 2005-11-13
- Volume
- 37
- Issue
- 12
- Pages
- 1312-1314
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2112682006
- Cited by
- 252
- References
- 0
- FWCI
- 5.57
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. https://app.cochat.ai/papers/10.1038/ng1678
- The paper
- Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N. I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L. M., Schröder, J. M., . . . Zerres, K. (2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics. https://doi.org/10.1038/ng1678
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.
