Page 27 - Read Online

Page 8 of 9 Lightner. Rare Dis Orphan Drugs J. 2026;5:1

42. Farschtschi S, Merker VL, Wolf D, et al. Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2.
Acta Neurol Scand. 2016;133:475-80. DOI
43. Shi J, Lu D, Gu R, et al. Integrated analysis of transcriptome and differential methylation of neurofibromatosis type 2 vestibular
schwannomas. World Neurosurg. 2022;157:e66-e76. DOI
44. Tsuchiya T, Miyawaki S, Teranishi Y, et al. Current molecular understanding of central nervous system schwannomas. Acta Neuropathol
Commun. 2025;13:24. DOI PubMed PMC
45. Chang LS, Oblinger JL, Smith AE, et al.; Synodos for NF2 Consortium. Brigatinib causes tumor shrinkage in both NF2-deficient
meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK. PLoS One. 2021;16:e0252048. DOI PubMed
PMC
46. Plotkin SR, Yohay KH, Nghiemphu PL, et al.; INTUITT-NF2 Consortium. Brigatinib in NF2-related schwannomatosis with progressive
tumors. N Engl J Med. 2024;390:2284-94. DOI
47. Karajannis MA, Legault G, Hagiwara M, et al. Phase II trial of lapatinib in adult and pediatric patients with neurofibromatosis type 2 and
progressive vestibular schwannomas. Neuro Oncol. 2012;14:1163-70. DOI PubMed PMC
48. Plotkin SR, Halpin C, McKenna MJ, et al. Erlotinib for progressive vestibular schwannoma in neurofibromatosis 2 patients. Neuro
Oncol. 2010;31:1135-43. DOI
49. Goutagny S, Raymond E, Esposito-Farese M, et al. Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2
patients with growing vestibular schwannomas. J Neurooncol. 2015;122:313-20. DOI
50. Karajannis MA, Legault G, Hagiwara M, et al. Phase II study of everolimus in children and adults with neurofibromatosis type 2 and
progressive vestibular schwannomas. Neuro Oncol. 2014;16:292-7. DOI PubMed PMC
51. Dombi E, Baldwin A, Marcus LJ, et al. Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J
Med. 2016;375:2550-60. DOI
52. Gross AM, Wolters PL, Dombi E, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med.
2020;382:1430-42. DOI
53. Weiss BD, Wolters PL, Plotkin SR, et al. NF106: a neurofibromatosis clinical trials consortium phase II trial of the MEK inhibitor
mirdametinib (PD-0325901) in adolescents and adults with NF1-RELATED PLEXIFORM NEUROFIBROmas. J Clin Oncol.
2021;39:797-806. DOI
54. Moertel CL, Hirbe AC, Shuhaiber HH, et al.; ReNeu Trial Investigators. ReNeu: a pivotal, phase iib trial of mirdametinib in adults and
children with symptomatic neurofibromatosis type 1-associated plexiform neurofibroma. J Clin Oncol. 2025;43:716-29. DOI PubMed
PMC
55. Hoy SM. Correction: mirdametinib: first approval. Drugs. 2025;85:1079. DOI PubMed PMC
56. Nagel A, Huegel J, Petrilli A, et al. Simultaneous inhibition of PI3K and PAK in preclinical models of neurofibromatosis type 2-related
schwannomatosis. Oncogene. 2024;43:921-30. DOI PubMed PMC
57. Mendell JR, Al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med.
2017;377:1713-22. DOI
58. Nishio H, Niba ETE, Saito T, Okamoto K, Takeshima Y, Awano H. Spinal muscular atrophy: the past, present, and future of diagnosis
and treatment. Int J Mol Sci. 2023;24:11939. DOI PubMed PMC
59. Hoy SM. Onasemnogene abeparvovec: first global approval. Drugs. 2019;79:1255-62. DOI PubMed
60. Le Guiner C, Servais L, Montus M, et al. Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular
dystrophy. Nat Commun. 2017;8:16105. DOI PubMed PMC
61. Abdul-Razak H, Malerba A, Dickson G. Advances in gene therapy for muscular dystrophies. F1000Res. 2016;5:2030. DOI PubMed
PMC
62. Elangkovan N, Dickson G. Gene Therapy for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2021;8:S303-16. DOI PubMed PMC
63. Prabhakar S, Beauchamp RL, Cheah PS, et al. Gene replacement therapy in a schwannoma mouse model of neurofibromatosis type 2.
Mol Ther Methods Clin Dev. 2022;26:169-80. DOI PubMed PMC
64. Yuan R, Wang B, Wang Y, Liu P. Gene therapy for neurofibromatosis type 2-related schwannomatosis: recent progress, challenges, and
future directions. Oncol Ther. 2024;12:257-76. DOI

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