The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study
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Citations
Cites
Population frequencies of inherited neuromuscular diseases—A world survey
Emery, A. E. H. (1991) · Neuromuscular Disorders · doi:10.1016/0960-8966(91)90039-u · Cited by 1,448
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
Lupski, J. R., de Oca-Luna, R. M., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Saucedo-Cardenas, O., Barker, D. F., Killian, J. M., Garcia, C. A., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90613-4 · Cited by 1,333
Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease
Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. O., Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., & Fischbeck, K. H. (1993) · Science · doi:10.1126/science.8266101 · Cited by 1,066
THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II
Harding, A. E. B., & Thomas, P. K. (1980) · Brain · doi:10.1093/brain/103.2.259 · Cited by 838
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B., Swanson, P. D., Odelberg, S. J., Disteche, C. M., & Bird, T. D. (1993) · Cell · doi:10.1016/0092-8674(93)90058-x · Cited by 814
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
Raeymaekers, P., Timmerman, V, Nelis, E., De Jonghe, P., Hoogenduk, J. E., Baas, F., Barker, D. F., Martin, J. J., De Visser, M., Bolhuis, P. A., et al. (1991) · Neuromuscular Disorders · doi:10.1016/0960-8966(91)90055-w · Cited by 607
Self-citationPatel, P. I., Roa, B. B., Welcher, A. A., Schoener-Scott, R., Trask, B. J., Pentao, L., Snipes, G. J., Garcia, C. A., Francke, U., Shooter, E. M., et al. (1992) · Nature Genetics · doi:10.1038/ng0692-159 · Cited by 499
Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A
Valentijn, L. J., Baas, F., Wolterman, R. A., Hoogendijk, J. E., van den Bosch, N. H. A., Zorn, I., Gabreëls-Festen, A. A. W. M., de Visser, M., & Bolhuis, P. A. (1992) · Nature Genetics · doi:10.1038/ng1292-288 · Cited by 422
Timmerman, V., Nelis, E., Van Hul, W., Nieuwenhuijsen, B. W., Chen, K. L., Wang, S., Othman, K. B., Cullen, B., Leach, R. J., Hanemann, C. O., et al. (1992) · Nature Genetics · doi:10.1038/ng0692-171 · Cited by 394
Self-citationPentao, L., Wise, C. A., Chinault, A. C., Patel, P. I., & Lupski, J. R. (1992) · Nature Genetics · doi:10.1038/ng1292-292 · Cited by 386
Cited by
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908
Diagnosis, natural history, and management of Charcot–Marie–Tooth disease
Pareyson, D., & Marchesi, C. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70110-3 · Cited by 621
Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544
Charcot‐marie‐tooth disease subtypes and genetic testing strategies
Saporta, A. S. D., Sottile, S. L., Miller, L. J., Feely, S. M. E., Siskind, C. E., & Shy, M. E. (2011) · Annals of Neurology · doi:10.1002/ana.22166 · Cited by 542
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
Krajewski, K. M. (2000) · Brain · doi:10.1093/brain/123.7.1516 · Cited by 414
Metadata
- Authors
- Nelis, E., & Van Broeckhoven, C.
- Venue
- European Journal of Human Genetics
- Published
- 1996
- Volume
- 4
- Issue
- 1
- Pages
- 25-33
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W1529011174
- Cited by
- 431
- References
- 28
- FWCI
- 10.63
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study. https://app.cochat.ai/papers/10.1159/000472166
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- Nelis, E., & Van Broeckhoven, C. (1996). Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study. European Journal of Human Genetics. https://doi.org/10.1159/000472166
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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.
