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Page 1
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
Int J Mol Sci. 2023 Aug 8;24(16):12580. doi: 10.3390/ijms241612580.
Int J Mol Sci. 2023.
PMID: 37628761
Free PMC article.
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.
Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW.
Alahmad A, et al. Among authors: spagnolo m.
EMBO Mol Med. 2020 Nov 6;12(11):e12619. doi: 10.15252/emmm.202012619. Epub 2020 Sep 24.
EMBO Mol Med. 2020.
PMID: 32969598
Free PMC article.
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Paraoxonase, arylesterase and lactonase activities of paraoxonase-1 (PON1) in obese and severely obese women.
Cervellati C, Bonaccorsi G, Trentini A, Valacchi G, Sanz JM, Squerzanti M, Spagnolo M, Massari L, Crivellari I, Greco P, Parladori R, Passaro A, Ricci G.
Cervellati C, et al. Among authors: spagnolo m.
Scand J Clin Lab Invest. 2018 Feb-Apr;78(1-2):18-24. doi: 10.1080/00365513.2017.1405274. Epub 2017 Nov 23.
Scand J Clin Lab Invest. 2018.
PMID: 29168398
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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Marchet S, Legati A, Nasca A, Di Meo I, Spagnolo M, Zanetti N, Lamantea E, Catania A, Lamperti C, Ghezzi D.
Marchet S, et al. Among authors: spagnolo m.
Hum Mutat. 2020 Oct;41(10):1745-1750. doi: 10.1002/humu.24081. Epub 2020 Jul 22.
Hum Mutat. 2020.
PMID: 32652806
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Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Peron C, Cavaliere A, Fasano C, Iannielli A, Spagnolo M, Legati A, Nicol Colombo M, Rizzo A, Sciacca FL, Carelli V, Broccoli V, Lamperti C, Tiranti V.
Peron C, et al. Among authors: spagnolo m.
Stem Cell Res. 2024 Mar 24;77:103406. doi: 10.1016/j.scr.2024.103406. Online ahead of print.
Stem Cell Res. 2024.
PMID: 38552355
Free article.
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