Santorelli FM - Search Results

1

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V. Libernini L, et al. Among authors: santorelli fm. Neuropediatrics. 2012 Aug;43(4):201-8. doi: 10.1055/s-0032-1315431. Epub 2012 May 22. Neuropediatrics. 2012. PMID: 22618301

2

Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S. Santorelli FM, et al. Neuromuscul Disord. 1997 May;7(3):156-9. doi: 10.1016/s0960-8966(97)00444-6. Neuromuscul Disord. 1997. PMID: 9185178 Free article.

3

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF. Carrozzo R, et al. Among authors: santorelli fm. Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. Neurology. 1998. PMID: 9443465

4

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: santorelli fm. 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

5

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. Acta Neurol Scand. 2000 Apr;101(4):255-8. doi: 10.1034/j.1600-0404.2000.101004255.x. Acta Neurol Scand. 2000. PMID: 10770522

6

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.

Santoro L, Carrozzo R, Malandrini A, Piemonte F, Patrono C, Villanova M, Tessa A, Palmeri S, Bertini E, Santorelli FM. Santoro L, et al. Among authors: santorelli fm. Neuromuscul Disord. 2000 Aug;10(6):450-3. doi: 10.1016/s0960-8966(99)00122-4. Neuromuscul Disord. 2000. PMID: 10899453

7

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. Among authors: santorelli fm. FEBS Lett. 2000 Dec 15;486(3):297-9. doi: 10.1016/s0014-5793(00)02244-4. FEBS Lett. 2000. PMID: 11119722 Free article.

8

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. Among authors: santorelli fm. Neurology. 2001 Mar 13;56(5):687-90. doi: 10.1212/wnl.56.5.687. Neurology. 2001. PMID: 11245730

9

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family.

Casali C, Bonifati V, Santorelli FM, Casari G, Fortini D, Patrignani A, Fabbrini G, Carrozzo R, D'Amati G, Locuratolo N, Vanacore N, Damiano M, Pierallini A, Pierelli F, Amabile GA, Meco G. Casali C, et al. Among authors: santorelli fm. Neurology. 2001 Mar 27;56(6):802-5. doi: 10.1212/wnl.56.6.802. Neurology. 2001. PMID: 11274324

10

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. Among authors: santorelli fm. Neurol Sci. 2000;21(5 Suppl):S983-4. doi: 10.1007/s100720070016. Neurol Sci. 2000. PMID: 11382202

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