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Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
Artuso L, Romano A, Verri T, Domenichini A, Argenton F, Santorelli FM, Petruzzella V. Artuso L, et al. Among authors: petruzzella v. Biochim Biophys Acta. 2012 Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub 2012 Mar 23. Biochim Biophys Acta. 2012. PMID: 22465854 Free article.
Respiratory complex I in brain development and genetic disease.
Papa S, Petruzzella V, Scacco S, Vergari R, Panelli D, Tamborra R, Corsi P, Picciariello M, Lambo R, Bertini E, Santorelli FM. Papa S, et al. Among authors: petruzzella v. Neurochem Res. 2004 Mar;29(3):547-60. doi: 10.1023/b:nere.0000014825.42365.16. Neurochem Res. 2004. PMID: 15038602
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM. Petruzzella V, et al. Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. doi: 10.1016/j.bbrc.2007.01.140. Epub 2007 Feb 2. Biochem Biophys Res Commun. 2007. PMID: 17292333
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: petruzzella v. 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.
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Among authors: petruzzella v. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.
Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.
Zoccolella S, Petruzzella V, Prascina F, Artuso L, Pacillo F, Dell'Aglio R, Avolio C, Delle Noci N, Attimonelli M, Specchio LM. Zoccolella S, et al. Among authors: petruzzella v. J Neurol. 2010 Dec;257(12):1999-2003. doi: 10.1007/s00415-010-5649-6. Epub 2010 Jul 15. J Neurol. 2010. PMID: 20632027
Bilateral progressive visual loss in an epileptic, mentally retarded boy.
Guerriero S, Vetrugno M, Ciracì L, Artuso L, Dell'aglio R, Petruzzella V. Guerriero S, et al. Among authors: petruzzella v. Middle East Afr J Ophthalmol. 2011 Jan;18(1):67-70. doi: 10.4103/0974-9233.75892. Middle East Afr J Ophthalmol. 2011. PMID: 21572739 Free PMC article.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: petruzzella v. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
Deep sequencing unearths nuclear mitochondrial sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
Petruzzella V, Carrozzo R, Calabrese C, Dell'Aglio R, Trentadue R, Piredda R, Artuso L, Rizza T, Bianchi M, Porcelli AM, Guerriero S, Gasparre G, Attimonelli M. Petruzzella V, et al. Hum Mol Genet. 2012 Sep 1;21(17):3753-64. doi: 10.1093/hmg/dds182. Epub 2012 May 15. Hum Mol Genet. 2012. PMID: 22589247
77 results