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High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F. Andreoletti G, et al. Among authors: mavilio f. Am J Hum Genet. 2023 Oct 5;110(10):1648-1660. doi: 10.1016/j.ajhg.2023.08.008. Epub 2023 Sep 5. Am J Hum Genet. 2023. PMID: 37673065 Free PMC article. Clinical Trial.
Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies.
Brusson M, Chalumeau A, Martinucci P, Romano O, Felix T, Poletti V, Scaramuzza S, Ramadier S, Masson C, Ferrari G, Mavilio F, Cavazzana M, Amendola M, Miccio A. Brusson M, et al. Among authors: mavilio f. Mol Ther Nucleic Acids. 2023 Mar 22;32:229-246. doi: 10.1016/j.omtn.2023.03.012. eCollection 2023 Jun 13. Mol Ther Nucleic Acids. 2023. PMID: 37090420 Free PMC 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: mavilio f. 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.
Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia.
Mercado-Ayón E, Warren N, Halawani S, Rodden LN, Ngaba L, Dong YN, Chang JC, Fonck C, Mavilio F, Lynch DR, Lin H. Mercado-Ayón E, et al. Among authors: mavilio f. Front Neurosci. 2022 Mar 24;16:819569. doi: 10.3389/fnins.2022.819569. eCollection 2022. Front Neurosci. 2022. PMID: 35401081 Free PMC article.
Clinical management of sickle cell liver disease in children and young adults.
Kyrana E, Rees D, Lacaille F, Fitzpatrick E, Davenport M, Heaton N, Height S, Samyn M, Mavilio F, Brousse V, Suddle A, Chakravorty S, Verma A, Gupte G, Velangi M, Inusa B, Drasar E, Hadzic N, Grammatikopoulos T, Hind J, Deheragoda M, Sellars M, Dhawan A. Kyrana E, et al. Among authors: mavilio f. Arch Dis Child. 2021 Apr;106(4):315-320. doi: 10.1136/archdischild-2020-319778. Epub 2020 Nov 11. Arch Dis Child. 2021. PMID: 33177052 Free PMC article. Review.
Editing a γ-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype.
Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C, De Cian A, Chalumeau A, Mavilio F, Amendola M, Andre-Schmutz I, Cereseto A, El Nemer W, Concordet JP, Giovannangeli C, Cavazzana M, Miccio A. Weber L, et al. Among authors: mavilio f. Sci Adv. 2020 Feb 12;6(7):eaay9392. doi: 10.1126/sciadv.aay9392. Print 2020 Feb. Sci Adv. 2020. PMID: 32917636 Free PMC article.
196 results