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Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Basu S, Aliu E, Shi H, Kochersberger C, Karunanidhi A, Van't Land C, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, DeAntonis C, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Among authors: guadagnin e. Hum Mol Genet. 2023 Jul 4;32(14):2347-2356. doi: 10.1093/hmg/ddad076. Hum Mol Genet. 2023. PMID: 37162351 Free PMC article.
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Aliu E, Shi H, Basu S, Kochersperger C, Van't Land C, Karunanidhi A, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Among authors: guadagnin e. Mol Genet Metab. 2023 Jan;138(1):106982. doi: 10.1016/j.ymgme.2022.106982. Epub 2022 Dec 23. Mol Genet Metab. 2023. PMID: 36580829 Free PMC article.
Steadiness training improves the quadriceps strength and self-reported outcomes in persistent quadriceps weakness following nine months of anterior cruciate ligament reconstruction and failed conventional physiotherapy.
De la Fuente C, Stoelben KJV, Silvestre R, Yañez R, Cheyre J, Guadagnin EC, Carpes FP. De la Fuente C, et al. Among authors: guadagnin ec. Clin Biomech (Bristol, Avon). 2022 Feb;92:105585. doi: 10.1016/j.clinbiomech.2022.105585. Epub 2022 Jan 29. Clin Biomech (Bristol, Avon). 2022. PMID: 35121351
Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.
Guadagnin E, Mohassel P, Johnson KR, Yang L, Santi M, Uapinyoying P, Dastgir J, Hu Y, Dillmann A, Cookson MR, Foley AR, Bönnemann CG. Guadagnin E, et al. Ann Clin Transl Neurol. 2021 Nov;8(11):2184-2198. doi: 10.1002/acn3.51450. Epub 2021 Nov 2. Ann Clin Transl Neurol. 2021. PMID: 34729958 Free PMC article.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated  serum creatine kinase.
Lopes Abath Neto O, Medne L, Donkervoort S, Rodríguez-García ME, Bolduc V, Hu Y, Guadagnin E, Foley AR, Brandsema JF, Glanzman AM, Tennekoon GI, Santi M, Berger JH, Megeney LA, Komaki H, Inoue M, Cotrina-Vinagre FJ, Hernández-Lain A, Martin-Hernández E, Williams L, Borell S, Schorling D, Lin K, Kolokotronis K, Lichter-Konecki U, Kirschner J, Nishino I, Banwell B, Martínez-Azorín F, Burgon PG, Bönnemann CG. Lopes Abath Neto O, et al. Among authors: guadagnin e. Brain. 2021 Oct 22;144(9):2722-2731. doi: 10.1093/brain/awab275. Brain. 2021. PMID: 34581780 Free PMC article.
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