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A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1
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Citations
Cited by
Genetics of population isolates
Arcos‐Burgos, M., & Muenke, M. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.610401.x · Cited by 271
Myosin accumulation and striated muscle myopathy result from the loss of muscle RING finger 1 and 3
Fielitz, J., Kim, M.-S., Shelton, J. M., Latif, S., Spencer, J. A., Glass, D. J., Richardson, J. A., Bassel-Duby, R., & Olson, E. N. (2007) · Journal of Clinical Investigation · doi:10.1172/jci32827 · Cited by 271
Muscle Giants: Molecular Scaffolds in Sarcomerogenesis
Kontrogianni-Konstantopoulos, A., Ackermann, M. A., Bowman, A. L., Yap, S. V., & Bloch, R. J. (2009) · Physiological Reviews · doi:10.1152/physrev.00017.2009 · Cited by 259
Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.10.020 · Cited by 168
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Garg, A., O’Rourke, J., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci74994 · Cited by 127
Metadata
- Authors
- Johnston, J. J., Kelley, R. I., Crawford, T. O., Morton, D. H., Agarwala, R., Koch, T., Schäffer, A. A., Francomano, C. A., & Biesecker, L. G.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2000-10
- Volume
- 67
- Issue
- 4
- Pages
- 814-821
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2095417854
- Cited by
- 328
- References
- 0
- FWCI
- 5.97
- Type
- journal article
- Language
- en
- Open access
- bronze
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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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How to cite
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- CoChat. (2026). Citation check: A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1. https://app.cochat.ai/papers/10.1086/303089
- The paper
- Johnston, J. J., Kelley, R. I., Crawford, T. O., Morton, D. H., Agarwala, R., Koch, T., Schäffer, A. A., Francomano, C. A., & Biesecker, L. G. (2000). A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1. The American Journal of Human Genetics. https://doi.org/10.1086/303089
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.
