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NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
Yu Y, Choi K, Wu J, Andreassen PR, Dexheimer PJ, Keddache M, Brems H, Spinner RJ, Cancelas JA, Martin LJ, Wallace MR, Legius E, Vogel KS, Ratner N. Yu Y, et al. Among authors: spinner rj. Acta Neuropathol. 2020 Jan;139(1):157-174. doi: 10.1007/s00401-019-02086-w. Epub 2019 Oct 29. Acta Neuropathol. 2020. PMID: 31664505 Free PMC article.
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E, Mao R, Sciot R, Janowski KM, Schuhmann MU, Claes K, Beert E, Garrity JA, Spinner RJ, Stemmer-Rachamimov A, Gavrilova R, Van Calenbergh F, Mautner V, Legius E. Babovic-Vuksanovic D, et al. Among authors: spinner rj. Eur J Hum Genet. 2012 Jun;20(6):618-25. doi: 10.1038/ejhg.2011.275. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258529 Free PMC article.
Insertional Mutagenesis Identifies a STAT3/Arid1b/β-catenin Pathway Driving Neurofibroma Initiation.
Wu J, Keng VW, Patmore DM, Kendall JJ, Patel AV, Jousma E, Jessen WJ, Choi K, Tschida BR, Silverstein KA, Fan D, Schwartz EB, Fuchs JR, Zou Y, Kim MO, Dombi E, Levy DE, Huang G, Cancelas JA, Stemmer-Rachamimov AO, Spinner RJ, Largaespada DA, Ratner N. Wu J, et al. Among authors: spinner rj. Cell Rep. 2016 Mar 1;14(8):1979-90. doi: 10.1016/j.celrep.2016.01.074. Epub 2016 Feb 18. Cell Rep. 2016. PMID: 26904939 Free PMC article.
Association of intraneural perineurioma with neurofibromatosis type 2.
Pendleton C, Spinner RJ, Dyck PJB, Mauermann ML, Ladak A, Restrepo CE, Baheti S, Klein CJ. Pendleton C, et al. Among authors: spinner rj. Acta Neurochir (Wien). 2020 Aug;162(8):1891-1897. doi: 10.1007/s00701-020-04439-x. Epub 2020 Jun 11. Acta Neurochir (Wien). 2020. PMID: 32529330
723 results