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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 6 |
2003 | 1 |
2024 | 0 |
Search Results
7 results
Results by year
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Page 1
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A.
Pediatr Res. 2003.
PMID: 12538779
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.
Ann Neurol. 2002 Sep;52(3):311-7. doi: 10.1002/ana.10284.
Ann Neurol. 2002.
PMID: 12205643
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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
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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.
Neuromuscul Disord. 2002 Nov;12(9):865-8. doi: 10.1016/s0960-8966(02)00072-x.
Neuromuscul Disord. 2002.
PMID: 12398839
Clinical Trial.
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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.
Arch Neurol. 2002 May;59(5):862-5. doi: 10.1001/archneur.59.5.862.
Arch Neurol. 2002.
PMID: 12020273
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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.
Neurology. 2002 Oct 22;59(8):1197-202. doi: 10.1212/01.wnl.0000028689.93049.9a.
Neurology. 2002.
PMID: 12391347
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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.
Biochem J. 2002 Apr 15;363(Pt 2):321-7. doi: 10.1042/0264-6021:3630321.
Biochem J. 2002.
PMID: 11931660
Free PMC article.
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