Petruzzella V - Search Results

1

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.

2

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

3

Mitochondrial disease mimicking polymyositis: a case report.

Corrado A, Cantatore FP, Serlenga L, Amati A, Petruzzella V, Lapadula G. Corrado A, et al. Among authors: petruzzella v. Clin Rheumatol. 2002 Sep;21(5):411-4. doi: 10.1007/s100670200110. Clin Rheumatol. 2002. PMID: 12223994

4

Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation.

Petruzzella V, Zoccolella S, Amati A, Torraco A, Lamberti P, Carnicella F, Serlenga L, Papa S. Petruzzella V, et al. Clin Genet. 2004 Jan;65(1):64-5. doi: 10.1111/j..2004.00185.x. Clin Genet. 2004. PMID: 15032978 No abstract available.

5

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

6

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.

Petruzzella V, Panelli D, Torraco A, Stella A, Papa S. Petruzzella V, et al. FEBS Lett. 2005 Jul 4;579(17):3770-6. doi: 10.1016/j.febslet.2005.05.035. FEBS Lett. 2005. PMID: 15975579 Free article.

7

Unusual clinical presentation of a patient carrying a novel single 1.8 kb deletion of mitochondrial DNA.

Zoccolella S, Torraco A, Amati A, Lamberti P, Serlenga L, Papa S, Petruzzella V. Zoccolella S, et al. Among authors: petruzzella v. Funct Neurol. 2006 Jan-Mar;21(1):39-41. Funct Neurol. 2006. PMID: 16735000

8

Mutations in structural genes of complex I associated with neurological diseases.

Scacco S, Petruzzella V, Bertini E, Luso A, Papa F, Bellomo F, Signorile A, Torraco A, Papa S. Scacco S, et al. Among authors: petruzzella v. Ital J Biochem. 2006 Sep-Dec;55(3-4):254-62. Ital J Biochem. 2006. PMID: 17274530 Review.

9

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

10

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: case study and effect of deep brain stimulation.

Aniello MS, Martino D, Petruzzella V, Eleopra R, Mancuso M, Dell'Aglio R, Cavallo M, Siciliano G, Defazio G. Aniello MS, et al. Among authors: petruzzella v. Mov Disord. 2008 Jan;23(1):114-8. doi: 10.1002/mds.21760. Mov Disord. 2008. PMID: 17960792

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