Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

29 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Di Nottia M, Rizza T, Baruffini E, Nesti C, Torraco A, Diodato D, Martinelli D, Dal Canto F, Gilea AI, Zoccola M, Siri B, Dionisi-Vici C, Bertini E, Santorelli FM, Goffrini P, Carrozzo R. Di Nottia M, et al. Front Genet. 2024 Aug 20;15:1437959. doi: 10.3389/fgene.2024.1437959. eCollection 2024. Front Genet. 2024. PMID: 39233737 Free PMC article.
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R. Berti B, et al. Among authors: di nottia m. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
Fabozzi F, Carrozzo R, Lodi M, Di Giannatale A, Cipri S, Rosignoli C, Giovannoni I, Stracuzzi A, Rizza T, Montante C, Agolini E, Di Nottia M, Galaverna F, Del Baldo G, Del Bufalo F, Mastronuzzi A, De Ioris MA. Fabozzi F, et al. Among authors: di nottia m. Front Oncol. 2024 Jan 8;13:1324013. doi: 10.3389/fonc.2023.1324013. eCollection 2023. Front Oncol. 2024. PMID: 38260858 Free PMC article.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F. Tramutola A, et al. Among authors: di nottia m. EBioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26. EBioMedicine. 2023. PMID: 37898095 Free PMC article.
Inflammatory profile in mitochondrial diseases: A cohort study.
Primiano G, Plantone D, Piro G, Carbone C, Sabino A, Sancricca C, Di Nottia M, Carrozzo R, Servidei S. Primiano G, et al. Among authors: di nottia m. Eur J Neurol. 2023 Oct;30(10):3409-3410. doi: 10.1111/ene.15962. Epub 2023 Jul 16. Eur J Neurol. 2023. PMID: 37402160 No abstract available.
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Marinaccio J, Micheli E, Udroiu I, Di Nottia M, Carrozzo R, Baranzini N, Grimaldi A, Leone S, Moreno S, Muzzi M, Sgura A. Marinaccio J, et al. Among authors: di nottia m. Int J Mol Sci. 2023 Feb 23;24(5):4450. doi: 10.3390/ijms24054450. Int J Mol Sci. 2023. PMID: 36901881 Free PMC article.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Grønborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez DP, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Østergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Kaiyrzhanov R, et al. Among authors: di nottia m. Am J Hum Genet. 2022 Sep 1;109(9):1692-1712. doi: 10.1016/j.ajhg.2022.07.007. Am J Hum Genet. 2022. PMID: 36055214 Free PMC article.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Carpentieri G, Leoni C, Pietraforte D, Cecchetti S, Iorio E, Belardo A, Pietrucci D, Di Nottia M, Pajalunga D, Megiorni F, Mercurio L, Tatti M, Camero S, Marchese C, Rizza T, Tirelli V, Onesimo R, Carrozzo R, Rinalducci S, Chillemi G, Zampino G, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: di nottia m. Hum Mol Genet. 2022 Feb 21;31(4):561-575. doi: 10.1093/hmg/ddab270. Hum Mol Genet. 2022. PMID: 34508588
29 results