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The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research.
Bullivant J, Sen A, Page J, Graham RJ, Jungbluth H, Schara-Schmidt U, Lynch O, Bönnemann C, Hollander AD, Lennox A, Moat D, Saegert C, Amburgey K, Buj-Bello A, Dowling JJ, Marini-Bettolo C. Bullivant J, et al. Among authors: buj bello a. Neuromuscul Disord. 2024 Feb;35:42-52. doi: 10.1016/j.nmd.2023.10.014. Epub 2023 Oct 30. Neuromuscul Disord. 2024. PMID: 38061948 Free article.
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: buj bello a. 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.
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis.
Raby A, Missiroli S, Sanatine P, Langui D, Pansiot J, Beaude N, Vezzana L, Saleh R, Marinello M, Laforge M, Pinton P, Buj-Bello A, Burgo A. Raby A, et al. Among authors: buj bello a. iScience. 2024 Aug 6;27(9):110683. doi: 10.1016/j.isci.2024.110683. eCollection 2024 Sep 20. iScience. 2024. PMID: 39252960 Free PMC article.
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders.
El Andari J, Renaud-Gabardos E, Tulalamba W, Weinmann J, Mangin L, Pham QH, Hille S, Bennett A, Attebi E, Bourges E, Leborgne C, Guerchet N, Fakhiri J, Krämer C, Wiedtke E, McKenna R, Guianvarc'h L, Toueille M, Ronzitti G, Hebben M, Mingozzi F, VandenDriessche T, Agbandje-McKenna M, Müller OJ, Chuah MK, Buj-Bello A, Grimm D. El Andari J, et al. Among authors: buj bello a. Sci Adv. 2022 Sep 23;8(38):eabn4704. doi: 10.1126/sciadv.abn4704. Epub 2022 Sep 21. Sci Adv. 2022. PMID: 36129972 Free PMC article.
Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective.
Amendola M, Bedel A, Buj-Bello A, Carrara M, Concordet JP, Frati G, Gilot D, Giovannangeli C, Gutierrez-Guerrero A, Laurent M, Miccio A, Moreau-Gaudry F, Sourd C, Valton J, Verhoeyen E. Amendola M, et al. Among authors: buj bello a. Hum Gene Ther. 2021 Oct;32(19-20):1059-1075. doi: 10.1089/hum.2021.191. Hum Gene Ther. 2021. PMID: 34494480 Free article. Review.
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