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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
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Citations
Cited by
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., & Engel, A. G. (2009) · Annals of Neurology · doi:10.1002/ana.21553 · Cited by 357
Endocytosis and signaling: Cell logistics shape the eukaryotic cell plan
Sigismund, S., Confalonieri, S., Ciliberto, A., Polo, S., Scita, G., & Di Fiore, P. P. (2012) · Physiological Reviews · doi:10.1152/physrev.00005.2011 · Cited by 338
Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy
Kyndt, F., Gueffet, J.-P., Probst, V., Jaafar, P., Legendre, A., Le Bouffant, F., Toquet, C., Roy, E., McGregor, L., Lynch, S. A., et al. (2007) · Circulation · doi:10.1161/circulationaha.106.622621 · Cited by 300
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
Prediction of Human Disease Genes by Human-Mouse Conserved Coexpression Analysis
Ala, U., Piro, R. M., Grassi, E., Damasco, C., Silengo, L., Oti, M., Provero, P., & Di Cunto, F. (2008) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000043 · Cited by 134
“The above statements are supported by the indicated references: i = [38]; ii = [39]; iii = [40]; iv = [41]; v = [42]; vi = [43]; vii = [44]; viii = [45]; ix = [46]; x = [47]; xi = [48]; xii = [49].”
Metadata
- Authors
- Vorgerd, M., van der Ven, P. F. M., Bruchertseifer, V., Löwe, T., Kley, R. A., Schröder, R., Lochmüller, H., Himmel, M., Koehler, K., Fürst, D. O., & Huebner, A.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2005-08
- Volume
- 77
- Issue
- 2
- Pages
- 297-304
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2056119944
- Cited by
- 309
- References
- 0
- FWCI
- 5.65
- Type
- journal article
- Language
- en
- Open access
- bronze
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How to cite
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- This page
- CoChat. (2026). Citation check: A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy. https://app.cochat.ai/papers/10.1086/431959
- The paper
- Vorgerd, M., van der Ven, P. F. M., Bruchertseifer, V., Löwe, T., Kley, R. A., Schröder, R., Lochmüller, H., Himmel, M., Koehler, K., Fürst, D. O., & Huebner, A. (2005). A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy. The American Journal of Human Genetics. https://doi.org/10.1086/431959
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.
