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Year Number of Results
2003 1
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2007 1
2008 2
2009 4
2011 4
2012 5
2013 4
2014 3
2015 4
2016 5
2017 3
2018 4
2019 1
2020 3
2021 2
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2025 3

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50 results

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Page 1
Infantile mitochondrial disorders.
Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM. Carrozzo R, et al. Among authors: rizza t. Biosci Rep. 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y. Biosci Rep. 2007. PMID: 17486440 Review.
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Bordi M, Testa B, Compagnucci C, Colasuonno F, Cipressa F, Betterini E, Mancini A, Carsetti C, Salvatori I, Ferraina C, Yang M, De Cegli R, Del Prete E, Veroni C, Rizza S, Mauri S, Ziviani E, Macchiaiolo M, Vecchio D, Panfili FM, Rizza T, Weber G, Carrozzo R, Ferri A, Campello S, Ballabio A, Frezza C, Cestra G, Tartaglia M, Bartuli A, Cecconi F. Bordi M, et al. Among authors: rizza t. Cell Rep. 2025 Sep 23;44(9):116230. doi: 10.1016/j.celrep.2025.116230. Epub 2025 Sep 5. Cell Rep. 2025. PMID: 40914938 Free article.
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. Among authors: rizza t. 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: rizza t. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Papa S, Petruzzella V, Scacco S, Sardanelli AM, Iuso A, Panelli D, Vitale R, Trentadue R, De Rasmo D, Capitanio N, Piccoli C, Papa F, Scivetti M, Bertini E, Rizza T, De Michele G. Papa S, et al. Among authors: rizza t. Biochim Biophys Acta. 2009 May;1787(5):502-17. doi: 10.1016/j.bbabio.2008.12.018. Epub 2009 Jan 10. Biochim Biophys Acta. 2009. PMID: 19210954 Free article. Review.
'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. Carelli V, et al. Among authors: rizza t. Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. Brain. 2015. PMID: 25146916 Free PMC article. No abstract available.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: rizza t. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Castiglioni C, Verrigni D, Okuma C, Diaz A, Alvarez K, Rizza T, Carrozzo R, Bertini E, Miranda M. Castiglioni C, et al. Among authors: rizza t. Eur J Paediatr Neurol. 2015 Sep;19(5):497-503. doi: 10.1016/j.ejpn.2015.04.008. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008863 Review.
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Maio N, Ghezzi D, Verrigni D, Rizza T, Bertini E, Martinelli D, Zeviani M, Singh A, Carrozzo R, Rouault TA. Maio N, et al. Among authors: rizza t. Cell Metab. 2016 Feb 9;23(2):292-302. doi: 10.1016/j.cmet.2015.12.005. Epub 2015 Dec 31. Cell Metab. 2016. PMID: 26749241 Free PMC article.
50 results