The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin
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Citations
Cites
Identification of ubiquitin ligases required for skeletal muscle atrophy.
Bodine, S. C., Latres, E., Baumhueter, S., Lai, V. K.-M., Nunez, L., Clarke, B. A., Poueymirou, W. T., Panaro, F. J., Na, E., Dharmarajan, K., et al. (2001) · Science · doi:10.1126/science.1065874 · Cited by 3,521
Cited by
Truncations of titin causing dilated cardiomyopathy
Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110186 · Cited by 1,485
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms
McNally, E. M., & Mestroni, L. (2017) · Circulation Research · doi:10.1161/circresaha.116.309396 · Cited by 786
Elastomeric biomaterials for tissue engineering
Chen, Q., Liang, S., & Thouas, G. A. (2013) · Progress in Polymer Science · doi:10.1016/j.progpolymsci.2012.05.003 · Cited by 564
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
Selcen, D. (2004) · Brain · doi:10.1093/brain/awh052 · Cited by 299
The sarcomeric Z-disc: a nodal point in signalling and disease
Frank, D., Kuhn, C., Katus, H. A., & Frey, N. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0033-1 · Cited by 235
Metadata
- Authors
- Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I., & Udd, B.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-09
- Volume
- 71
- Issue
- 3
- Pages
- 492-500
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2041663954
- Cited by
- 473
- References
- 1
- FWCI
- 7.02
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin. https://app.cochat.ai/papers/10.1086/342380
- The paper
- Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard, I., & Udd, B. (2002). Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin. The American Journal of Human Genetics. https://doi.org/10.1086/342380
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.
