| 1 |
Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984; 16(4): 481-8.
doi: 10.1002/ana.410160409
pmid: 6093682
|
| 2 |
El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015; 116(1-2): 4-12.
doi: 10.1016/j.ymgme.2015.06.004
pmid: 26095523
|
| 3 |
Vodopivec I, Cho TA, Rizzo JF 3rd, Frosch MP, Sims KB. Mitochondrial encephalopathy and optic neuropathy due to m.10158 MT-ND3 complex I mutation presenting in an adult patient: case report and review of the literature. Neurologist. 2016; 21(4): 61-5.
|
| 4 |
Sato W, Hayasaka K, Shoji Y, Takahashi T, Takada G, Saito M, et al. A mitochondrial tRNA(Leu)(UUR) mutation at 3, 256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Mol Biol Int. 1994; 33(6): 1055-61.
pmid: 7804130
|
| 5 |
Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990; 348(6302): 651-3.
|
| 6 |
Hirano M, Ricci E, Koenigsberger MR, Defendini R, Pavlakis SG, DeVivo DC, et al. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord. 1992; 2(2): 125-35.
|
| 7 |
Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, et al. MITOMAP: a human mitochondrial genome database—2004 update. Nucleic Acids Res. 2005; 33(Database issue): D611-D613.
doi: 10.1093/nar/gki079
pmid: 15608272
|
| 8 |
Rønning OM, Thommessen B. Stroke: when the diagnosis is wrong. Tidsskr Nor Laegeforen. 2005; 125(12): 1655-7.
|
| 9 |
Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, et al. Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature. Clin Nephrol. 2013; 80(6):456-63.
doi: 10.5414/CN107063
pmid: 22909780
|
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