The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
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Citations
Cites
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Skre, H. (1974) · Clinical Genetics · doi:10.1111/j.1399-0004.1974.tb00638.x · Cited by 906
Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ
Zhao, C., Takita, J., Tanaka, Y., Setou, M., Nakagawa, T., Takeda, S., Yang, H. W., Terada, S., Nakata, T., Takei, Y., et al. (2001) · Cell · doi:10.1016/s0092-8674(01)00363-4 · Cited by 767
Struewing, J. P., Abeliovich, D., Peretz, T., Avishai, N., Kaback, M. M., Collins, F. S., & Brody, L. C. (1995) · Nature Genetics · doi:10.1038/ng1095-198 · Cited by 647
Verhoeven, K., De Jonghe, P., Coen, K., Verpoorten, N., Auer-Grumbach, M., Kwon, J. M., FitzPatrick, D., Schmedding, E., De Vriendt, E., Jacobs, A., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367847 · Cited by 456
Mersiyanova, I. V., Perepelov, A. V., Polyakov, A. V., Sitnikov, V. F., Dadali, E. L., Oparin, R. B., Petrin, A. N., & Evgrafov, O. V. (2000) · The American Journal of Human Genetics · doi:10.1086/302962 · Cited by 421
Dyck, P. J. (1968) · Archives of Neurology · doi:10.1001/archneur.1968.00470360041003 · Cited by 411
An empirical energy function for threading protein sequence through the folding motif
Bryant, S. H., & Lawrence, C. E. (1993) · Proteins: Structure, Function, and Bioinformatics · doi:10.1002/prot.340160110 · Cited by 400
Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions
Kunst, C. B., Mezey, É., Brownstein, M., & Patterson, D. (1997) · Nature Genetics · doi:10.1038/ng0197-91 · Cited by 127
Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Murakami, T., Garcia, C. A., Reiter, L. T., & Lupski, J. R. (1996) · Medicine · doi:10.1097/00005792-199609000-00001 · Cited by 86
Freist, W., Logan, D. T., & Gauss, D. H. (1996) · PubMed · Cited by 55
Cited by
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
Pasinelli, P., & Brown, R. H. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1971 · Cited by 1,107
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
Scheper, G. C., van der Klok, T., van Andel, R. J., van Berkel, C. G. M., Sissler, M., Smet, J., Muravina, T. I., Serkov, S. V., Uziel, G., Bugiani, M., et al. (2007) · Nature Genetics · doi:10.1038/ng2013 · Cited by 454
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
Irobi, J., Impe, K. V., Seeman, P., Jordanova, A., Dierick, I., Verpoorten, N., Michalik, A., Vriendt, E. D., Jacobs, A., Gerwen, V. V., et al. (2004) · Nature Genetics · doi:10.1038/ng1328 · Cited by 416
Self-citationWindpassinger, C., Auer-Grumbach, M., Irobi, J., Patel, H., Petek, E., Hörl, G., Malli, R., Reed, J. A., Dierick, I., Verpoorten, N., et al. (2004) · Nature Genetics · doi:10.1038/ng1313 · Cited by 381
Metadata
- Authors
- Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., & Green, E. D.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 72
- Issue
- 5
- Pages
- 1293-1299
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2040724884
- Cited by
- 566
- References
- 12
- FWCI
- 9.22
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. https://app.cochat.ai/papers/10.1086/375039
- The paper
- Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S.-Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T., Sivakumar, K., Ionasescu, V., Funalot, B., Vance, J. M., Goldfarb, L. G., Fischbeck, K. H., & Green, E. D. (2003). Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V. The American Journal of Human Genetics. https://doi.org/10.1086/375039
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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.
