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Page 1
Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back.
J Pers Med. 2020 Nov 28;10(4):258. doi: 10.3390/jpm10040258.
J Pers Med. 2020.
PMID: 33260623
Free PMC article.
Review.
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G.
Arrondel C, et al. Among authors: buscara l.
Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x.
Nat Commun. 2019.
PMID: 31481669
Free PMC article.
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Mack DL, Poulard K, Goddard MA, Latournerie V, Snyder JM, Grange RW, Elverman MR, Denard J, Veron P, Buscara L, Le Bec C, Hogrel JY, Brezovec AG, Meng H, Yang L, Liu F, O'Callaghan M, Gopal N, Kelly VE, Smith BK, Strande JL, Mavilio F, Beggs AH, Mingozzi F, Lawlor MW, Buj-Bello A, Childers MK.
Mack DL, et al. Among authors: buscara l.
Mol Ther. 2017 Apr 5;25(4):839-854. doi: 10.1016/j.ymthe.2017.02.004. Epub 2017 Feb 22.
Mol Ther. 2017.
PMID: 28237839
Free PMC article.
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R-spondin1 is required for normal epithelial morphogenesis during mammary gland development.
Chadi S, Buscara L, Pechoux C, Costa J, Laubier J, Chaboissier MC, Pailhoux E, Vilotte JL, Chanat E, Le Provost F.
Chadi S, et al. Among authors: buscara l.
Biochem Biophys Res Commun. 2009 Dec 18;390(3):1040-3. doi: 10.1016/j.bbrc.2009.10.104. Epub 2009 Oct 24.
Biochem Biophys Res Commun. 2009.
PMID: 19857464
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Goat RSPO1 over-expression rescues sex-reversal in Rspo1-knockout XX mice but does not perturb testis differentiation in XY or sex-reversed XX mice.
Buscara L, Montazer-Torbati F, Chadi S, Auguste A, Laubier J, Chassot AA, Renault L, Passet B, Costa J, Pannetier M, Vilotte M, Chaboissier MC, Vilotte JL, Pailhoux E, Le Provost F.
Buscara L, et al.
Transgenic Res. 2009 Aug;18(4):649-54. doi: 10.1007/s11248-009-9247-2. Epub 2009 Jan 30.
Transgenic Res. 2009.
PMID: 19184501
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