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Page 1
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.
Bugiardini E, Bottani E, Marchet S, Poole OV, Beninca C, Horga A, Woodward C, Lam A, Hargreaves I, Chalasani A, Valerio A, Lamantea E, Venner K, Holton JL, Zeviani M, Houlden H, Quinlivan R, Lamperti C, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: marchet s. Neurol Genet. 2020 Jan 7;6(1):e381. doi: 10.1212/NXG.0000000000000381. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042910 Free PMC article.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
Brunetti D, Dusi S, Giordano C, Lamperti C, Morbin M, Fugnanesi V, Marchet S, Fagiolari G, Sibon O, Moggio M, d'Amati G, Tiranti V. Brunetti D, et al. Among authors: marchet s. Brain. 2014 Jan;137(Pt 1):57-68. doi: 10.1093/brain/awt325. Epub 2013 Dec 6. Brain. 2014. PMID: 24316510 Free PMC article.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Melchionda L, et al. Among authors: marchet s. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28. Am J Hum Genet. 2014. PMID: 25175347 Free PMC article.
Transcription Factor EB Controls Metabolic Flexibility during Exercise.
Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A. Mansueto G, et al. Among authors: marchet s. Cell Metab. 2017 Jan 10;25(1):182-196. doi: 10.1016/j.cmet.2016.11.003. Epub 2016 Dec 20. Cell Metab. 2017. PMID: 28011087 Free PMC article.
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.
Zanolini A, Potic A, Carrara F, Lamantea E, Diodato D, Blasevich F, Marchet S, Mora M, Pallotti F, Morandi L, Zeviani M, Lamperti C. Zanolini A, et al. Among authors: marchet s. Mol Genet Metab Rep. 2016 Dec 15;10:24-27. doi: 10.1016/j.ymgmr.2016.11.009. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 28070494 Free PMC article.
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy.
Legati A, Reyes A, Ceccatelli Berti C, Stehling O, Marchet S, Lamperti C, Ferrari A, Robinson AJ, Mühlenhoff U, Lill R, Zeviani M, Goffrini P, Ghezzi D. Legati A, et al. Among authors: marchet s. J Med Genet. 2017 Dec;54(12):815-824. doi: 10.1136/jmedgenet-2017-104822. Epub 2017 Oct 27. J Med Genet. 2017. PMID: 29079705 Free PMC article.
37 results