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| Home > Publications database > Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. > print |
| 001 | 125803 | ||
| 005 | 20240228143333.0 | ||
| 024 | 7 | _ | |a 10.1002/ana.24753 |2 doi |
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| 024 | 7 | _ | |a 0364-5134 |2 ISSN |
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| 037 | _ | _ | |a DKFZ-2017-01927 |
| 041 | _ | _ | |a eng |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Farschtschi, Said |b 0 |
| 245 | _ | _ | |a Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. |
| 260 | _ | _ | |a Hoboken, NJ |c 2016 |b Wiley-Blackwell |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1524733620_26071 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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 NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 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. Ann Neurol 2016;80:625-628. |
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| 650 | _ | 7 | |a LZTR1 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Transcription Factors |2 NLM Chemicals |
| 700 | 1 | _ | |a Mautner, Victor-Felix |b 1 |
| 700 | 1 | _ | |a Pham, Mirko |b 2 |
| 700 | 1 | _ | |a Nguyen, Rosa |b 3 |
| 700 | 1 | _ | |a Kehrer-Sawatzki, Hildegard |b 4 |
| 700 | 1 | _ | |a Hutter, Sonja |0 P:(DE-He78)81d14a5d74f69c16e5e1cd0144cd955c |b 5 |u dkfz |
| 700 | 1 | _ | |a Friedrich, Reinhard E |b 6 |
| 700 | 1 | _ | |a Schulz, Alexander |b 7 |
| 700 | 1 | _ | |a Morrison, Helen |b 8 |
| 700 | 1 | _ | |a Jones, David |0 P:(DE-He78)551bb92841f634070997aa168d818492 |b 9 |
| 700 | 1 | _ | |a Bendszus, Martin |b 10 |
| 700 | 1 | _ | |a Bäumer, Philipp |0 P:(DE-He78)4a14b13a372ab8bf853e4b650a6bd98a |b 11 |e Last author |
| 773 | _ | _ | |a 10.1002/ana.24753 |g Vol. 80, no. 4, p. 625 - 628 |0 PERI:(DE-600)2037912-2 |n 4 |p 625 - 628 |t Annals of neurology |v 80 |y 2016 |x 0364-5134 |
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