-
1
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis SG, Philips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Philips, P.C.2
Dimauro, S.3
-
2
-
-
0028107258
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): Current concepts
-
Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): current concepts. J Child Neurol 1994;9:4-13
-
(1994)
J Child Neurol
, vol.9
, pp. 4-13
-
-
Hirano, M.1
Pavlakis, S.G.2
-
3
-
-
0026708671
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A correlative study of the clinical features and mitochondrial DNA mutation
-
Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992;42:545-50
-
(1992)
Neurology
, vol.42
, pp. 545-550
-
-
Goto, Y.1
Horai, S.2
Matsuoka, T.3
-
4
-
-
0026681490
-
MELAS: Clinical features, biochemistry, and molecular genetics
-
Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-8
-
(1992)
Ann Neurol
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
-
5
-
-
84859430997
-
MELAS: A nationwide prospective cohort study of 96 patients in Japan
-
Published Online First, April, doi:10.1016/j.bbagen.2011.03.015
-
Yatsuga S, Povalko N, Nishioka J, et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta. Published Online First: 1 April 2011. doi:10.1016/j.bbagen.2011.03.015
-
(2011)
Biochim Biophys Acta
, pp. 1
-
-
Yatsuga, S.1
Povalko, N.2
Nishioka, J.3
-
6
-
-
82955225292
-
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
-
Kaufmann P, Engelstad K, Wei Y, et al. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology 2011;77:1965-71
-
(2011)
Neurology
, vol.77
, pp. 1965-1971
-
-
Kaufmann, P.1
Engelstad, K.2
Wei, Y.3
-
7
-
-
0030065865
-
Mitochondrial myopathy-encephalopathy-lactic acidosis- and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children
-
Kim IO, Kim JH, Kim WS, et al. Mitochondrial myopathy-encephalopathy-lactic acidosis- and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. AJR Am J Roentgenol 1996;166:641-5
-
(1996)
AJR Am J Roentgenol
, vol.166
, pp. 641-645
-
-
Kim, I.O.1
Kim, J.H.2
Kim, W.S.3
-
8
-
-
0031874059
-
Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2342G point mutation: Implications for pathogenesis
-
Sue CM, Crimmins DS, Soo YS, et al. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2342G point mutation: implications for pathogenesis. J Neurol Neurosurg Psych 1998;65:233-40
-
(1998)
J Neurol Neurosurg Psych
, vol.65
, pp. 233-240
-
-
Sue, C.M.1
Crimmins, D.S.2
Soo, Y.S.3
-
9
-
-
53049097141
-
Differential diagnosis of restricted diffusion confined to the cerebral cortex
-
Sheerin F, Pretorius PM, Briley D, et al. Differential diagnosis of restricted diffusion confined to the cerebral cortex. Clin Radiol 2008;63:1245-53
-
(2008)
Clin Radiol
, vol.63
, pp. 1245-1253
-
-
Sheerin, F.1
Pretorius, P.M.2
Briley, D.3
-
10
-
-
0032763818
-
Vasogenic edema on MELAS: A serial study with diffusion-weighted MR imaging
-
Yoneda M, Maeda M, Kimura H, et al. Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging. Neurology 1999;53:2182-4
-
(1999)
Neurology
, vol.53
, pp. 2182-2184
-
-
Yoneda, M.1
Maeda, M.2
Kimura, H.3
-
11
-
-
0141955033
-
Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema
-
Wang XY, Noguchi K, Takashima S, et al. Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema. Neuroradiology 2003;45:640-3
-
(2003)
Neuroradiology
, vol.45
, pp. 640-643
-
-
Wang, X.Y.1
Noguchi, K.2
Takashima, S.3
-
12
-
-
0025249215
-
Fluctuating MR images with mitochondrial encephalopathy, lactic acidosis, stroke-like syndrome (MELAS)
-
Abe K, Inui T, Hirono N, et al. Fluctuating MR images with mitochondrial encephalopathy, lactic acidosis, stroke-like syndrome (MELAS). Neuroradiology 1990;32:77.
-
(1990)
Neuroradiology
, vol.32
, pp. 77
-
-
Abe, K.1
Inui, T.2
Hirono, N.3
-
13
-
-
78651505891
-
Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode) in thirteen patients
-
Kim JH, Lim MK, Jeon TY, et al. Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode) in thirteen patients. Korean J Radiol 2011;12:15-24
-
(2011)
Korean J Radiol
, vol.12
, pp. 15-24
-
-
Kim, J.H.1
Lim, M.K.2
Jeon, T.Y.3
-
14
-
-
0028817051
-
MELAS syndrome: Imaging and proton MR spectroscopic findings
-
Castillo M, Kwock L, Green C. MELAS syndrome: imaging and proton MR spectroscopic findings. AJNR Am J Neuroradiol 1995;16(2):233-9
-
(1995)
AJNR Am J Neuroradiol
, vol.16
, Issue.2
, pp. 233-239
-
-
Castillo, M.1
Kwock, L.2
Green, C.3
-
15
-
-
0345686508
-
Proton MR spectroscopy of mitochondrial diseases: Analysis of brain metabolic abnormalities and their possible diagnostic significance
-
Bianchi MC, Tosetti M, Battini R, et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic significance. Am J Neuroradiol 2003:1958-66
-
(2003)
Am J Neuroradiol
, pp. 1958-1966
-
-
Bianchi, M.C.1
Tosetti, M.2
Battini, R.3
-
17
-
-
62549084242
-
PET imaging of redox and energy states in stroke-like episodes of MELAS
-
Ikawa M, Okazawa H, Arakawa K, et al. PET imaging of redox and energy states in stroke-like episodes of MELAS. Mitochondrion 2009;9:144-8
-
(2009)
Mitochondrion
, vol.9
, pp. 144-148
-
-
Ikawa, M.1
Okazawa, H.2
Arakawa, K.3
-
18
-
-
20544441278
-
Pathology of mitochondrial encephalomyopathies
-
Sarnat HB, Marin-Garcia J. Pathology of mitochondrial encephalomyopathies. Can J Neurol Sci 2005;32:152-66
-
(2005)
Can J Neurol Sci
, vol.32
, pp. 152-166
-
-
Sarnat, H.B.1
Marin-Garcia, J.2
-
19
-
-
62749151765
-
The study of mitochondrial A3243G mutation in different samples. mitochondrion
-
Ma Y, Fang F, Yang Y, et al. The study of mitochondrial A3243G mutation in different samples. mitochondrion 2009;9:139-43. Mitochondrion 2008:8; 396-413.
-
(2008)
Mitochondrion
, vol.8
, pp. 396-413
-
-
Ma, Y.1
Fang, F.2
Yang, Y.3
-
20
-
-
77951974136
-
Current molecular diagnostic algorithm for mitochondrial disorders
-
Wong LJ, Scaglia F, Graham BH, et al. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 2010;100:111-17
-
(2010)
Mol Genet Metab
, vol.100
, pp. 111-117
-
-
Wong, L.J.1
Scaglia, F.2
Graham, B.H.3
-
21
-
-
0025666322
-
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encenphalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encenphalomyopathies. Nature 1990;348:651-3
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
22
-
-
0026591516
-
Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS)
-
Sato W, Hayasaka K, Komatsu K, et al. Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS). Am J Hum Genet 1992;50:655-7
-
(1992)
Am J Hum Genet
, vol.50
, pp. 655-657
-
-
Sato, W.1
Hayasaka, K.2
Komatsu, K.3
-
23
-
-
0032231623
-
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population
-
Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet 1998;63:447-54
-
(1998)
Am J Hum Genet
, vol.63
, pp. 447-454
-
-
Majamaa, K.1
Moilanen, J.S.2
Uimonen, S.3
-
24
-
-
48349097445
-
Pathogenic mitochondrial DNA mutations are common in the general population
-
Elliott HR, Samuels DC, Eden JA, et al. Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet 2008;83:254-60
-
(2008)
Am J Hum Genet
, vol.83
, pp. 254-260
-
-
Elliott, H.R.1
Samuels, D.C.2
Eden, J.A.3
-
25
-
-
0034746790
-
Decrease of 3243 A->G mtDNA mutation from blood in MELAS syndrome: A longitudinal study
-
Rahman S, Poulton J, Marchington D, et al. Decrease of 3243 A->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001;68:238-40
-
(2001)
Am J Hum Genet
, vol.68
, pp. 238-240
-
-
Rahman, S.1
Poulton, J.2
Marchington, D.3
-
26
-
-
0027935355
-
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA (Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Goto Y, Tsugane K, Tanabe Y, et al. A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA (Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Biochem Biophys Res Commun 1994;202:1624-30
-
(1994)
Biochem Biophys Res Commun
, vol.202
, pp. 1624-1630
-
-
Goto, Y.1
Tsugane, K.2
Tanabe, Y.3
-
27
-
-
0028030728
-
A mitochondrial tRNA(leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)
-
Sato W, Hayasaka K, Shoji Y, et al. A mitochondrial tRNA(leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Mol Biol Int 1994;33:1055-61
-
(1994)
Biochem Mol Biol Int
, vol.33
, pp. 1055-1061
-
-
Sato, W.1
Hayasaka, K.2
Shoji, Y.3
-
28
-
-
0035852868
-
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation
-
Bataillard M, Chatzoglou E, Rumbach L, et al. Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. Neurology 2001;56:405-7
-
(2001)
Neurology
, vol.56
, pp. 405-407
-
-
Bataillard, M.1
Chatzoglou, E.2
Rumbach, L.3
-
29
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes
-
King MP, Koga Y, Davidson M, et al. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes. Mol Cell Biol 1992;12:480-90
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
-
30
-
-
0023619281
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration
-
Yamamoto M, Sato T, Anno M, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration. J Neurol Neurosurg Psychiatry 1987;50:1475-81
-
(1987)
J Neurol Neurosurg Psychiatry
, vol.50
, pp. 1475-1481
-
-
Yamamoto, M.1
Sato, T.2
Anno, M.3
-
31
-
-
0026454497
-
MELAS syndrome with mitochondrial tRNALeu (UUR) mutation: Correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
-
Penn AMW, Lee JWK, Thuillier P, et al. MELAS syndrome with mitochondrial tRNALeu (UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin. Neurology 1992;42:2147-52
-
(1992)
Neurology
, vol.42
, pp. 2147-2152
-
-
Penn, A.M.W.1
Lee, J.W.K.2
Thuillier, P.3
-
32
-
-
13844321746
-
L-Arginine improves the symptoms of strokelike episodes in MELAS
-
Koga Y, Akita Y, Nishioka J, et al. L-Arginine improves the symptoms of strokelike episodes in MELAS. Neurology 2005;64:710-12
-
(2005)
Neurology
, vol.64
, pp. 710-712
-
-
Koga, Y.1
Akita, Y.2
Nishioka, J.3
-
34
-
-
0025673969
-
Ubidecarenone in the treatment of mitochondrial myopathies: A multi-center double-blind trial
-
Bresolin N, Doriguzzi C, Ponzetto C, et al. Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial. J Neurol Sci 1990;100:70-8
-
(1990)
J Neurol Sci
, vol.100
, pp. 70-78
-
-
Bresolin, N.1
Doriguzzi, C.2
Ponzetto, C.3
-
35
-
-
0029834971
-
Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS
-
Ikejiri Y, Mori E, Ishii K, et al. Idebenone improves cerebral mitochondrial oxidative metabolism in a patient with MELAS. Neurology 1996;47:583-5
-
(1996)
Neurology
, vol.47
, pp. 583-585
-
-
Ikejiri, Y.1
Mori, E.2
Ishii, K.3
-
37
-
-
0037066134
-
Effects of L-arginine on the acute phase of strokes in three patients with MELAS
-
Koga Y, Ishibashi M, Ueki I, et al. Effects of L-arginine on the acute phase of strokes in three patients with MELAS. Neurology 2002;58:827-8
-
(2002)
Neurology
, vol.58
, pp. 827-828
-
-
Koga, Y.1
Ishibashi, M.2
Ueki, I.3
-
38
-
-
0026454497
-
MELAS syndrome with mitochondrial tRNALeu (UUR) mutation: Correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin
-
Penn AMW, Lee JWK, Thuillier P, et al. MELAS syndrome with mitochondrial tRNALeu (UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin. Neurology 1992;42:2147-52
-
(1992)
Neurology
, vol.42
, pp. 2147-2152
-
-
Penn, A.M.W.1
Lee, J.W.K.2
Thuillier, P.3
-
39
-
-
33646202306
-
Dichloroacetate causes toxic neuropathy in MELAS: A randomized, controlled clinical trial
-
Kaufmann P, Engelstad Y, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006;66:324-30
-
(2006)
Neurology
, vol.66
, pp. 324-330
-
-
Kaufmann, P.1
Engelstad, Y.2
Wei, Y.3
-
40
-
-
0033047456
-
Gene shifting: A novel therapy for mitochondrial myopathy
-
Taivassalo T, Fu K, Johns T, et al. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 1999;8:1047-52
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1047-1052
-
-
Taivassalo, T.1
Fu, K.2
Johns, T.3
-
41
-
-
9144268527
-
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
-
Santra S, Gilkerson RW, Davidson M, et al. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol 2004;56:662-9
-
(2004)
Ann Neurol
, vol.56
, pp. 662-669
-
-
Santra, S.1
Gilkerson, R.W.2
Davidson, M.3
-
42
-
-
77952485613
-
Ketogenic diet slows down mitochondrial myopathy progression in mice
-
Ahola-Erkkila S, Carrol CJ, Peltola-Mjösund K, et al. Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum Mol Genet 2010;19:1974-84
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1974-1984
-
-
Ahola-Erkkila, S.1
Carrol, C.J.2
Peltola-Mjösund, K.3
-
43
-
-
56749180593
-
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes
-
Wai T, Teoli D, Shoubridge EA. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes. Nat Genet 2008;40:1484-8
-
(2008)
Nat Genet
, vol.40
, pp. 1484-1488
-
-
Wai, T.1
Teoli, D.2
Shoubridge, E.A.3
-
44
-
-
77952096877
-
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
-
Craven L, Tuppen HA, Greggains GD, et al. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010;465:82-5
-
(2010)
Nature
, vol.465
, pp. 82-85
-
-
Craven, L.1
Tuppen, H.A.2
Greggains, G.D.3
|