{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:33:46Z","timestamp":1778754826990,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,8,13]],"date-time":"2016-08-13T00:00:00Z","timestamp":1471046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"M\u00e4rta and Erik Karberg Foundation for Medical Research"},{"name":"Bundesverband Neurofibromatose"},{"name":"Medical Faculty of the University of Heidelberg"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:p>Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of <jats:italic>NF2<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, and <jats:italic>LZTR1<\/jats:italic>. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited <jats:italic>LZTR1<\/jats:italic> germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. 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W.","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neuro\u2010oncology German Cancer Research Center Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Bendszus","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Heidelberg University Hospital Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philipp","family":"B\u00e4umer","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Heidelberg University Hospital Heidelberg Germany"},{"name":"Department of Radiology German Cancer Research Center Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000163982.78900.AD"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201190.89751.41"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35760"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0319-8"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2855"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-014-1311-1"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001129"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2012-0162"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2003.05249.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01249.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2015.11.001"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000128"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6581-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1215\/15228517-2008-011"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0000000000000111"},{"key":"e_1_2_8_17_1","unstructured":"FarschtschiS B\u00e4umerP PhamM et al. Charakteristische Mikrol\u00e4sionen bei Schwannomatose? 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