Sacconi S - Search Results

1

Sacconi S, Salviati L, Desnuelle C. Sacconi S, et al. Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Biochim Biophys Acta. 2015. PMID: 24882751 Free article. Review.

2

Acute disseminated encephalomyelitis associated with hepatitis C virus infection.

Sacconi S, Salviati L, Merelli E. Sacconi S, et al. Arch Neurol. 2001 Oct;58(10):1679-81. doi: 10.1001/archneur.58.10.1679. Arch Neurol. 2001. PMID: 11594929

3

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.

Salviati L, Hernandez-Rosa E, Walker WF, Sacconi S, DiMauro S, Schon EA, Davidson MM. Salviati L, et al. Among authors: sacconi s. Biochem J. 2002 Apr 15;363(Pt 2):321-7. doi: 10.1042/0264-6021:3630321. Biochem J. 2002. PMID: 11931660 Free PMC article.

4

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.

Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. Salviati L, et al. Among authors: sacconi s. Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862. Arch Neurol. 2002. PMID: 12020273

5

Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S. Sacconi S, et al. Arch Neurol. 2002 Jun;59(6):1013-5. doi: 10.1001/archneur.59.6.1013. Arch Neurol. 2002. PMID: 12056939

6

Mitochondrial DNA depletion and dGK gene mutations.

Salviati L, Sacconi S, Mancuso M, Otaegui D, Camaño P, Marina A, Rabinowitz S, Shiffman R, Thompson K, Wilson CM, Feigenbaum A, Naini AB, Hirano M, Bonilla E, DiMauro S, Vu TH. Salviati L, et al. Among authors: sacconi s. Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284. Ann Neurol. 2002. PMID: 12205643

7

Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.

Mancuso M, Salviati L, Sacconi S, Otaegui D, Camaño P, Marina A, Bacman S, Moraes CT, Carlo JR, Garcia M, Garcia-Alvarez M, Monzon L, Naini AB, Hirano M, Bonilla E, Taratuto AL, DiMauro S, Vu TH. Mancuso M, et al. Among authors: sacconi s. Neurology. 2002 Oct 22;59(8):1197-202. doi: 10.1212/01.wnl.0000028689.93049.9a. Neurology. 2002. PMID: 12391347

8

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

Karadimas CL, Salviati L, Sacconi S, Chronopoulou P, Shanske S, Bonilla E, De Vivo DC, DiMauro S. Karadimas CL, et al. Among authors: sacconi s. Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x. Neuromuscul Disord. 2002. PMID: 12398839 Clinical Trial.

9

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. Sacconi S, et al. Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A. Pediatr Res. 2003. PMID: 12538779

10

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.

Rabinowitz SS, Gelfond D, Chen CK, Gloster ES, Whitington PF, Sacconi S, Salviati L, DiMauro S. Rabinowitz SS, et al. Among authors: sacconi s. J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):216-20. doi: 10.1097/00005176-200402000-00022. J Pediatr Gastroenterol Nutr. 2004. PMID: 14734888 No abstract available.

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