The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Diagnostic criteria for schwannomatosis
Abstract
The neurofibromatoses are a diverse group of genetic conditions that share a predisposition to the development of tumors of the nerve sheath. Schwannomatosis is a recently recognized third major form of neurofibromatosis (NF) that causes multiple schwannomas without vestibular tumors diagnostic of NF2. Patients with schwannomatosis represent 2.4 to 5% of all patients requiring schwannoma resection and approximately one third of patients with schwannomatosis have anatomically localized disease with tumors limited to a single limb or segment of spine. Epidemiologic studies suggest that schwannomatosis is as common as NF2, but that familial occurrence is inexplicably rare. Patients with schwannomatosis overwhelmingly present with pain, and pain remains the primary clinical problem and indication for surgery. Diagnostic criteria for schwannomatosis are needed for both clinicians and researchers, but final diagnostic certainly will await the identification of the schwannomatosis locus itself.
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Gutmann, D. H. (1997) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1997.03550010065042 · Cited by 1,359
Kirschner, L. S., Carney, J. A., Pack, S. D., Taymans, S. E., Giatzakis, C., Cho, Y. S., Cho-Chung, Y. S., & Stratakis, C. A. (2000) · Nature Genetics · doi:10.1038/79238 · Cited by 1,153
Evans, D. G., Huson, S. M., Donnai, D., Neary, W., Blair, V, Teare, D., Newton, V, Strachan, T., Ramsden, R., & Harris, R. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.12.841 · Cited by 468
Self-citationAntinheimo, J., Sankila, R., Carpén, O., Pukkala, E., Sainio, M., & Jääskeläinen, J. (2000) · Neurology · doi:10.1212/wnl.54.1.71 · Cited by 338
Sobel, R. A., & Wang, Y. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199303000-00002 · Cited by 125
Universal absence of merlin, but not other ERM family members, in schwannomas.
Stemmer-Rachamimov, A. O., Xu, L., Gonzalez-Agosti, C., Burwick, J. A., Pinney, D., Beauchamp, R. L., Jacoby, L. B., Gusella, J. F., Ramesh, V., & Louis, D. N. (1997) · PubMed · Cited by 125
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Cited by
Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective
Ferner, R. E. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70075-3 · Cited by 511
Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis
Hulsebos, T. J. M., Plomp, A. S., Wolterman, R. A., Robanus-Maandag, E. C., Baas, F., & Wesseling, P. (2007) · The American Journal of Human Genetics · doi:10.1086/513207 · Cited by 398
Metadata
- Authors
- MacCollin, M., Chiocca, E. A., Evans, D. G., Friedman, J. M., Horvitz, R., Jaramillo, D., Lev, M., Mautner, V. F., Niimura, M., Plotkin, S. R., Sang, C. N., Stemmer-Rachamimov, A., & Roach, E. S.
- Venue
- Neurology
- Published
- 2005-06-14
- Volume
- 64
- Issue
- 11
- Pages
- 1838-1845
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2143617564
- Cited by
- 417
- References
- 6
- FWCI
- 10.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- MacCollin, M., Chiocca, E. A., Evans, D. G., Friedman, J. M., Horvitz, R., Jaramillo, D., Lev, M., Mautner, V. F., Niimura, M., Plotkin, S. R., Sang, C. N., Stemmer-Rachamimov, A., & Roach, E. S. (2005). Diagnostic criteria for schwannomatosis. Neurology. https://doi.org/10.1212/01.wnl.0000163982.78900.ad
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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