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188 results

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Page 1
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
Koch C, Buono S, Menuet A, Robé A, Djeddi S, Kretz C, Gomez-Oca R, Depla M, Monseur A, Thielemans L, Servais L; NatHis-CNM Study Group; Laporte J, Cowling BS. Koch C, et al. Among authors: buono s. Mol Ther Methods Clin Dev. 2020 May 4;17:1178-1189. doi: 10.1016/j.omtm.2020.04.022. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32514412 Free PMC article.
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy.
Buono S, Ross JA, Tasfaout H, Levy Y, Kretz C, Tayefeh L, Matson J, Guo S, Kessler P, Monia BP, Bitoun M, Ochala J, Laporte J, Cowling BS. Buono S, et al. Proc Natl Acad Sci U S A. 2018 Oct 23;115(43):11066-11071. doi: 10.1073/pnas.1808170115. Epub 2018 Oct 5. Proc Natl Acad Sci U S A. 2018. PMID: 30291191 Free PMC article.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Lionello VM, Kretz C, Edelweiss E, Crucifix C, Gómez-Oca R, Messaddeq N, Buono S, Koebel P, Massana Muñoz X, Diedhiou N, Cowling BS, Bitoun M, Laporte J. Lionello VM, et al. Among authors: buono s. Proc Natl Acad Sci U S A. 2022 Mar 1;119(9):e2109576119. doi: 10.1073/pnas.2109576119. Proc Natl Acad Sci U S A. 2022. PMID: 35217605 Free PMC article.
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice.
Fortier M, Cauhapé M, Buono S, Becker J, Menuet A, Branchu J, Ricca I, Mero S, Dorgham K, El Hachimi KH, Dobrenis K, Colsch B, Samaroo D, Devaux M, Durr A, Stevanin G, Santorelli FM, Colombo S, Cowling B, Darios F. Fortier M, et al. Among authors: buono s. Neurobiol Dis. 2024 Sep;199:106564. doi: 10.1016/j.nbd.2024.106564. Epub 2024 Jun 12. Neurobiol Dis. 2024. PMID: 38876323 Free article.
Oral Health and Quality of Life in People with Autism Spectrum Disorder.
Fallea A, Vetri L, L'Episcopo S, Bartolone M, Zingale M, Di Fatta E, d'Albenzio G, Buono S, Roccella M, Elia M, Costanza C. Fallea A, et al. Among authors: buono s. J Clin Med. 2024 Aug 31;13(17):5179. doi: 10.3390/jcm13175179. J Clin Med. 2024. PMID: 39274391 Free PMC article.
Belzutifan versus Everolimus for Advanced Renal-Cell Carcinoma.
Choueiri TK, Powles T, Peltola K, de Velasco G, Burotto M, Suarez C, Ghatalia P, Iacovelli R, Lam ET, Verzoni E, Gümüş M, Stadler WM, Kollmannsberger C, Melichar B, Venugopal B, Gross-Goupil M, Poprach A, De Santis M, Schutz FA, Park SH, Nosov DA, Porta C, Lee JL, Garcia-Del-Muro X, Biscaldi E, Manneh Kopp R, Oya M, He L, Wang A, Perini RF, Vickery D, Albiges L, Rini B; LITESPARK-005 Investigators. Choueiri TK, et al. N Engl J Med. 2024 Aug 22;391(8):710-721. doi: 10.1056/NEJMoa2313906. N Engl J Med. 2024. PMID: 39167807 Clinical Trial.
188 results