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Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis.
Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Ahlawat S, et al. Among authors: farschtschi s. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929. Neurology. 2016. PMID: 27527647 Free PMC article.
Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
Hutter S, Piro RM, Reuss DE, Hovestadt V, Sahm F, Farschtschi S, Kehrer-Sawatzki H, Wolf S, Lichter P, von Deimling A, Schuhmann MU, Pfister SM, Jones DT, Mautner VF. Hutter S, et al. Among authors: farschtschi s. Acta Neuropathol. 2014 Sep;128(3):449-52. doi: 10.1007/s00401-014-1311-1. Epub 2014 Jul 10. Acta Neuropathol. 2014. PMID: 25008767 No abstract available.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Rauen KA, et al. Among authors: farschtschi s. Am J Med Genet A. 2015 Jan;167A(1):1-10. doi: 10.1002/ajmg.a.36793. Epub 2014 Nov 12. Am J Med Genet A. 2015. PMID: 25393061 Free PMC article.
Non-optic glioma in adults and children with neurofibromatosis 1.
Sellmer L, Farschtschi S, Marangoni M, Heran MK, Birch P, Wenzel R, Friedman JM, Mautner VF. Sellmer L, et al. Among authors: farschtschi s. Orphanet J Rare Dis. 2017 Feb 15;12(1):34. doi: 10.1186/s13023-017-0588-2. Orphanet J Rare Dis. 2017. PMID: 28202035 Free PMC article.
47 results