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Page 1
Motor Function and Physiology in Youth With Neurofibromatosis Type 1.
Doherty AC, Huddleston DA, Horn PS, Ratner N, Simpson BN, Schorry EK, Aschbacher-Smith L, Prada CE, Gilbert DL. Doherty AC, et al. Among authors: schorry ek. Pediatr Neurol. 2023 Jun;143:34-43. doi: 10.1016/j.pediatrneurol.2023.02.014. Epub 2023 Mar 3. Pediatr Neurol. 2023. PMID: 36996759 Free PMC article.
Variable expression of neurofibromatosis 1 in monozygotic twins.
Rieley MB, Stevenson DA, Viskochil DH, Tinkle BT, Martin LJ, Schorry EK. Rieley MB, et al. Among authors: schorry ek. Am J Med Genet A. 2011 Mar;155A(3):478-85. doi: 10.1002/ajmg.a.33851. Epub 2011 Feb 18. Am J Med Genet A. 2011. PMID: 21337692
Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.
Tang Y, Lu A, Ran R, Aronow BJ, Schorry EK, Hopkin RJ, Gilbert DL, Glauser TA, Hershey AD, Richtand NW, Privitera M, Dalvi A, Sahay A, Szaflarski JP, Ficker DM, Ratner N, Sharp FR. Tang Y, et al. Among authors: schorry ek. Brain Res Mol Brain Res. 2004 Dec 20;132(2):155-67. doi: 10.1016/j.molbrainres.2003.10.014. Brain Res Mol Brain Res. 2004. PMID: 15582155
Lethal presentation of neurofibromatosis and Noonan syndrome.
Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: schorry ek. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: schorry ek. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.
Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium. Payne JM, et al. Neurology. 2016 Dec 13;87(24):2575-2584. doi: 10.1212/WNL.0000000000003435. Epub 2016 Nov 9. Neurology. 2016. PMID: 27956565 Free PMC article. Clinical Trial.
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