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AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. Dowling JJ, et al. Among authors: bonnemann cg. Nat Med. 2024 Jul;30(7):1882-1887. doi: 10.1038/s41591-024-03078-4. Epub 2024 Jun 28. Nat Med. 2024. PMID: 38942994 Free PMC article. Clinical Trial.
The genetics of congenital myopathies.
Gonorazky HD, Bönnemann CG, Dowling JJ. Gonorazky HD, et al. Among authors: bonnemann cg. Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Handb Clin Neurol. 2018. PMID: 29478600 Review.
Congenital myopathies: an update.
Nance JR, Dowling JJ, Gibbs EM, Bönnemann CG. Nance JR, et al. Among authors: bonnemann cg. Curr Neurol Neurosci Rep. 2012 Apr;12(2):165-74. doi: 10.1007/s11910-012-0255-x. Curr Neurol Neurosci Rep. 2012. PMID: 22392505 Free PMC article. Review.
Ethical challenges for a new generation of early-phase pediatric gene therapy trials.
Iyer AA, Saade D, Bharucha-Goebel D, Foley AR, Averion G', Paredes E, Gray S, Bönnemann CG, Grady C, Hendriks S, Rid A. Iyer AA, et al. Among authors: bonnemann cg. Genet Med. 2021 Nov;23(11):2057-2066. doi: 10.1038/s41436-021-01245-3. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234300 Free article. Review.
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, Bönnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M; Gene Therapy Workshop Faculty. Davidson BL, et al. Mol Ther. 2022 Jul 6;30(7):2416-2428. doi: 10.1016/j.ymthe.2022.05.014. Epub 2022 May 17. Mol Ther. 2022. PMID: 35585789 Free PMC article. Review.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Among authors: bonnemann cg. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.
Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, Waite M, Drinkard B, Wakim PG, Dowling JJ, Bönnemann CG, Emile-Backer M, Meilleur KG. Todd JJ, et al. Among authors: bonnemann cg. Neurology. 2020 Mar 31;94(13):e1434-e1444. doi: 10.1212/WNL.0000000000008872. Epub 2020 Jan 15. Neurology. 2020. PMID: 31941795 Free PMC article. Clinical Trial.
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG. Todd JJ, et al. Among authors: bonnemann cg. Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018. Front Neurol. 2018. PMID: 29556213 Free PMC article.
312 results