Di Meo I - Search Results

1

A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy.

Nasca A, Di Meo I, Fellig Y, Saada A, Elpeleg O, Ghezzi D, Edvardson S. Nasca A, et al. Among authors: di meo i. J Hum Genet. 2021 Aug;66(8):835-840. doi: 10.1038/s10038-020-00897-4. Epub 2021 Feb 22. J Hum Genet. 2021. PMID: 33612823

2

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Bruni F, Di Meo I, Bellacchio E, Webb BD, McFarland R, Chrzanowska-Lightowlers ZMA, He L, Skorupa E, Moroni I, Ardissone A, Walczak A, Tyynismaa H, Isohanni P, Mandel H, Prokisch H, Haack T, Bonnen PE, Enrico B, Pronicka E, Ghezzi D, Taylor RW, Diodato D. Bruni F, et al. Among authors: di meo i. Hum Mutat. 2018 Apr;39(4):563-578. doi: 10.1002/humu.23398. Epub 2018 Feb 7. Hum Mutat. 2018. PMID: 29314548 Free PMC article.

3

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: di meo i. Hum Mutat. 2020 Oct;41(10):1745-1750. doi: 10.1002/humu.24081. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652806

4

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Cavestro C, Panteghini C, Reale C, Nasca A, Fenu S, Salsano E, Chiapparini L, Garavaglia B, Pareyson D, Di Meo I, Tiranti V. Cavestro C, et al. Among authors: di meo i. Neurogenetics. 2021 Oct;22(4):347-351. doi: 10.1007/s10048-021-00667-0. Epub 2021 Aug 13. Neurogenetics. 2021. PMID: 34387792 Free PMC article.

5

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: di meo i. Ann Clin Transl Neurol. 2024 Jun;11(6):1615-1629. doi: 10.1002/acn3.52079. Epub 2024 May 15. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free PMC article.

6

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V. Mineri R, et al. Among authors: di meo i. J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271. J Med Genet. 2008. PMID: 18593870

7

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.

Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. Boyer M, et al. Among authors: di meo i. Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14. Mol Genet Metab. 2018. PMID: 29526615

8

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: di meo i. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.

9

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.

Palombo F, Peron C, Caporali L, Iannielli A, Maresca A, Di Meo I, Fiorini C, Segnali A, Sciacca FL, Rizzo A, Levi S, Suomalainen A, Prigione A, Broccoli V, Carelli V, Tiranti V. Palombo F, et al. Among authors: di meo i. Stem Cell Reports. 2021 Aug 10;16(8):1953-1967. doi: 10.1016/j.stemcr.2021.06.016. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329598 Free PMC article.

10

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.

Cavaliere A, Marchet S, Di Meo I, Tiranti V. Cavaliere A, et al. Among authors: di meo i. J Vis Exp. 2022 Mar 9;(181). doi: 10.3791/63452. J Vis Exp. 2022. PMID: 35343952

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