Petruzzella V - Search Results

1

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M. Santorelli FM, et al. Among authors: petruzzella v. Biochem Biophys Res Commun. 1998 Apr 17;245(2):519-22. doi: 10.1006/bbrc.1998.8484. Biochem Biophys Res Commun. 1998. PMID: 9571187

2

Disorders of nuclear-mitochondrial intergenomic signalling.

Zeviani M, Petruzzella V, Carrozzo R. Zeviani M, et al. Among authors: petruzzella v. J Bioenerg Biomembr. 1997 Apr;29(2):121-30. doi: 10.1023/a:1022633912917. J Bioenerg Biomembr. 1997. PMID: 9239538 Review.

3

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.

Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. Petruzzella V, et al. Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580. Genomics. 1998. PMID: 9878253

4

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S. Petruzzella V, et al. Hum Mol Genet. 2001 Mar 1;10(5):529-35. doi: 10.1093/hmg/10.5.529. Hum Mol Genet. 2001. PMID: 11181577

5

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

Petruzzella V, Di Giacinto G, Scacco S, Piemonte F, Torraco A, Carrozzo R, Vergari R, Dionisi-Vici C, Longo D, Tessa A, Papa S, Bertini E. Petruzzella V, et al. Neurology. 2003 Oct 14;61(7):1017-8. doi: 10.1212/01.wnl.0000080363.10902.e9. Neurology. 2003. PMID: 14557590 No abstract available.

6

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

7

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

8

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.

9

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

10

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Berti B, Longo G, Mari F, Doccini S, Piccolo I, Donati MA, Moro F, Guerrini R, Santorelli FM, Petruzzella V. Berti B, et al. Among authors: petruzzella v. BMC Med Genomics. 2021 Jun 12;14(1):157. doi: 10.1186/s12920-021-01001-1. BMC Med Genomics. 2021. PMID: 34118926 Free PMC article.

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