Carrozzo R - Search Results

1

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576

2

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation.

Santorelli FM, Gagliardi MG, Dionisi-Vici C, Parisi F, Tessa A, Carrozzo R, Piemonte F, Pfeiffer K, Schägger H, Bertini E. Santorelli FM, et al. Among authors: carrozzo r. Neuromuscul Disord. 2002 Jan;12(1):56-9. doi: 10.1016/s0960-8966(01)00248-6. Neuromuscul Disord. 2002. PMID: 11731286

3

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: carrozzo r. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204

4

OXPHOS and mtDNA alterations in a family with spastic paraparesis.

Santorelli FM, Piemonte F, Carrozzo R, Tessa A, Patrono C, Tozzi G, Bertini E. Santorelli FM, et al. Among authors: carrozzo r. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

5

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

Carrozzo R, Tessa A, Vázquez-Memije ME, Piemonte F, Patrono C, Malandrini A, Dionisi-Vici C, Vilarinho L, Villanova M, Schägger H, Federico A, Bertini E, Santorelli FM. Carrozzo R, et al. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

6

A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

Carrozzo R, Murray J, Capuano O, Tessa A, Chichierchia G, Neglia MR, Capaldi RA, Santorelli FM. Carrozzo R, et al. Neurol Sci. 2000;21(5 Suppl):S983-4. doi: 10.1007/s100720070016. Neurol Sci. 2000. PMID: 11382202

7

A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.

Carrozzo R, Rizza T, Lucioli S, Pierini R, Bertini E, Santorelli FM. Carrozzo R, et al. Acta Paediatr Suppl. 2004 May;93(445):65-7. doi: 10.1111/j.1651-2227.2004.tb03060.x. Acta Paediatr Suppl. 2004. PMID: 15176724

8

The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.

Carrozzo R, Murray J, Santorelli FM, Capaldi RA. Carrozzo R, et al. FEBS Lett. 2000 Dec 15;486(3):297-9. doi: 10.1016/s0014-5793(00)02244-4. FEBS Lett. 2000. PMID: 11119722 Free article.

9

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

Vilarinho L, Barbot C, Carrozzo R, Calado E, Tessa A, Dionisi-Vici C, Guimarães A, Santorelli FM. Vilarinho L, et al. Among authors: carrozzo r. J Inherit Metab Dis. 2001 Dec;24(8):883-4. doi: 10.1023/a:1013908728445. J Inherit Metab Dis. 2001. PMID: 11916326 No abstract available.

10

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM. Patrono C, et al. Among authors: carrozzo r. Am J Med Genet. 2000 Mar 13;91(2):138-40. doi: 10.1002/(sici)1096-8628(20000313)91:2<138::aid-ajmg12>3.0.co;2-q. Am J Med Genet. 2000. PMID: 10748414

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

216 results

Search Page

Filters