-
1
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis SG, Phillips PC, DiMauro S et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-488
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
2
-
-
2642539211
-
Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: A single-step approach
-
Bai RK, Wong LJ. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem 2004; 50: 996-1001
-
(2004)
Clin Chem
, vol.50
, pp. 996-1001
-
-
Bai, R.K.1
Wong, L.J.2
-
3
-
-
40949107333
-
Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy
-
Oishi M, Miki K, Morita A et al. Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy. Intern Med 2008; 47: 441-444
-
(2008)
Intern Med
, vol.47
, pp. 441-444
-
-
Oishi, M.1
Miki, K.2
Morita, A.3
-
4
-
-
46449106965
-
-
Choi BO, Hwang JH, Kim Jet al. A MELAS syndrome family harboring two mutations in mitochondrial genome. Exp Mol Med 2008; 40:354-360
-
Choi BO, Hwang JH, Kim Jet al. A MELAS syndrome family harboring two mutations in mitochondrial genome. Exp Mol Med 2008; 40:354-360
-
-
-
-
5
-
-
33746427026
-
Evolution until death of two members of a family with A3243G mutation and MELAS-phe-notype versus diabetes mellitus
-
Perez Lopez-Fraile MI, Barrena R, Montoya Jetal. Evolution until death of two members of a family with A3243G mutation and MELAS-phe-notype versus diabetes mellitus. Neurologia 2006; 21: 327-332
-
(2006)
Neurologia
, vol.21
, pp. 327-332
-
-
Perez Lopez-Fraile, M.I.1
Barrena, R.2
Montoya, J.3
-
6
-
-
46249121846
-
Retinal atrophy associated with FSGS in a patient with MELAS-syndrome
-
Deva R, Colville D, Savige J. Retinal atrophy associated with FSGS in a patient with MELAS-syndrome. Kidney Int 2008; 74: 252
-
(2008)
Kidney Int
, vol.74
, pp. 252
-
-
Deva, R.1
Colville, D.2
Savige, J.3
-
7
-
-
35048818019
-
Acute hearing loss in a patient with mito-chondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes(MELAS)
-
Chen JC, Tsai TC, Liu CS et al. Acute hearing loss in a patient with mito-chondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes(MELAS). Acta Neurol Taiwan 2007; 16: 168- 172
-
(2007)
Acta Neurol Taiwan
, vol.16
, pp. 168-172
-
-
Chen, J.C.1
Tsai, T.C.2
Liu, C.S.3
-
8
-
-
63649112201
-
-
Tan TM, Caputo C, Medici F et al. MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. Clin Endocrinol(Oxf) 2008;(in press)
-
Tan TM, Caputo C, Medici F et al. MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. Clin Endocrinol(Oxf) 2008;(in press)
-
-
-
-
9
-
-
63649138011
-
Adult-onset hypertrophic cardiomyopathy manifested as initial major presentation of mitochondrial disease with A-to-G 3243 tRNA(Leu(UUR)) point mutation
-
in press
-
Hsu PC, Chu CS, Lin THetal. Adult-onset hypertrophic cardiomyopathy manifested as initial major presentation of mitochondrial disease with A-to-G 3243 tRNA(Leu(UUR)) point mutation. Int J Cardiol 2007;(in press)
-
(2007)
Int J Cardiol
-
-
Hsu, P.C.1
Chu, C.S.2
Lin, T.H.3
-
10
-
-
36148940942
-
Wolff-Parkinson-White syndrome in Patients with MELAS
-
Sproule DM, Kaufmann P, Engelstad K et al. Wolff-Parkinson-White syndrome in Patients with MELAS. Arch Neurol 2007; 64: 1625-1627
-
(2007)
Arch Neurol
, vol.64
, pp. 1625-1627
-
-
Sproule, D.M.1
Kaufmann, P.2
Engelstad, K.3
-
11
-
-
40749127505
-
-
WangW,SeakCJ,LiaoSCetal. Cardiac tamponade: a new complication in a patient with mitochondrial myopathy, encephalopathy, lactic aci-dosis, and strokelike episodes. Am J Emerg Med 2008; 26: 382.e1-2
-
WangW,SeakCJ,LiaoSCetal. Cardiac tamponade: a new complication in a patient with mitochondrial myopathy, encephalopathy, lactic aci-dosis, and strokelike episodes. Am J Emerg Med 2008; 26: 382.e1-2
-
-
-
-
12
-
-
32944477705
-
Aortic rupture in mitochondrial en-cephalopathy, lactic acidosis, and stroke-like episodes
-
Tay SH, Nordli JrDR, Bonilla E et al. Aortic rupture in mitochondrial en-cephalopathy, lactic acidosis, and stroke-like episodes. Arch Neurol 2006; 63: 281-283
-
(2006)
Arch Neurol
, vol.63
, pp. 281-283
-
-
Tay, S.H.1
JrDR, N.2
Bonilla, E.3
-
13
-
-
5644291815
-
Acquired left ventricular hypertra-beculation/ noncompaction in mitochondriopathy
-
Finsterer J, Stbllberger C, Schubert B. Acquired left ventricular hypertra-beculation/ noncompaction in mitochondriopathy. Cardiology 2004;102: 228-230
-
(2004)
Cardiology
, vol.102
, pp. 228-230
-
-
Finsterer, J.1
Stbllberger, C.2
Schubert, B.3
-
14
-
-
42049088079
-
Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation
-
Betts J, Barron MJ, Needham SJ et al. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology 2008; 70: 1290-1292
-
(2008)
Neurology
, vol.70
, pp. 1290-1292
-
-
Betts, J.1
Barron, M.J.2
Needham, S.J.3
-
15
-
-
42649117196
-
Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic aci-dosis, and stroke-like episodes(MELAS) associated with phenytoin therapy
-
Chiyonobu T, Noda R, Yoshida M et al. Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic aci-dosis, and stroke-like episodes(MELAS) associated with phenytoin therapy. Brain Dev 2008; 30: 430-433
-
(2008)
Brain Dev
, vol.30
, pp. 430-433
-
-
Chiyonobu, T.1
Noda, R.2
Yoshida, M.3
-
16
-
-
0037167550
-
Neuronal hyperexcitability in strokelike episodes of MELAS syndrome
-
Iizuka T, Sakai F, Suzuki N et al. Neuronal hyperexcitability in strokelike episodes of MELAS syndrome. Neurology 2002; 59: 816-824
-
(2002)
Neurology
, vol.59
, pp. 816-824
-
-
Iizuka, T.1
Sakai, F.2
Suzuki, N.3
-
17
-
-
0242494492
-
Slowly progressive spread of the stroke like lesions in MELAS
-
Iizuka T, Sakai F, Kan S et al. Slowly progressive spread of the stroke like lesions in MELAS. Neurology 2003; 61: 1238-1244
-
(2003)
Neurology
, vol.61
, pp. 1238-1244
-
-
Iizuka, T.1
Sakai, F.2
Kan, S.3
-
18
-
-
0036857387
-
Diversity of clinical symptoms in A3243G mitochondrial DNA mutation(MELAS-syn-drome mutation)
-
Pronicki M, Sykut-Cegielska J, Mierzewska H et al. Diversity of clinical symptoms in A3243G mitochondrial DNA mutation(MELAS-syn-drome mutation). Med Sci Monit 2002; 8: CR767- 773
-
(2002)
Med Sci Monit
, vol.8
-
-
Pronicki, M.1
Sykut-Cegielska, J.2
Mierzewska, H.3
-
19
-
-
18744419215
-
MELAS-syndrome(mitochondrial encephalopathy with lactic acidosis and stroke-like episodes
-
Carmi E, Defossez C, Morin G et al. MELAS-syndrome(mitochondrial encephalopathy with lactic acidosis and stroke-like episodes. Ann Dermatol Venereol 2001; 128: 1031-1035
-
(2001)
Ann Dermatol Venereol
, vol.128
, pp. 1031-1035
-
-
Carmi, E.1
Defossez, C.2
Morin, G.3
-
21
-
-
0031904289
-
Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies
-
Ohkoshi N, Ishii A, Shiraiwa N et al. Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. J Med 1998;29: 13-29
-
(1998)
J Med
, vol.29
, pp. 13-29
-
-
Ohkoshi, N.1
Ishii, A.2
Shiraiwa, N.3
-
22
-
-
34249829899
-
-
Iizuka T, Sakai F, Ide Tet al. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in ME-LAS-implication of neurovascular cellular mechanism. J Neurol Sci 2007; 257: 126- 138
-
Iizuka T, Sakai F, Ide Tet al. Regional cerebral blood flow and cerebrovascular reactivity during chronic stage of stroke-like episodes in ME-LAS-implication of neurovascular cellular mechanism. J Neurol Sci 2007; 257: 126- 138
-
-
-
-
23
-
-
33846348269
-
Evaluation of mitochondrial encephalomyo-pathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy
-
Feng F, You H, Gao J etal. Evaluation of mitochondrial encephalomyo-pathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy. Chin Med Sci J2006; 21: 234- 238
-
Chin Med Sci
, vol.J2006
, Issue.21
, pp. 234-238
-
-
Feng, F.1
You, H.2
Gao, J.3
-
24
-
-
33846073409
-
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
-
Bi WL, Baehring JM, Lesser RL. Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. J Neuroophthalmol 2006; 26: 251-256
-
(2006)
J Neuroophthalmol
, vol.26
, pp. 251-256
-
-
Bi, W.L.1
Baehring, J.M.2
Lesser, R.L.3
-
25
-
-
38949197215
-
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
-
Longo N, Schrijver I, Vogel H et al. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A 2008;146: 361-367
-
(2008)
Am J Med Genet A
, vol.146
, pp. 361-367
-
-
Longo, N.1
Schrijver, I.2
Vogel, H.3
-
26
-
-
24344508639
-
-
Scaglia F, Wong LJ, Vladutiu GD et al. Predominant cerebellar loss as a neuroradiologic feature of pediatric respiratory chain defects. AmJNeuroradiol2005; 26: 1675-1680
-
Scaglia F, Wong LJ, Vladutiu GD et al. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AmJNeuroradiol2005; 26: 1675-1680
-
-
-
-
27
-
-
35048887533
-
CT and MRI appearance of mitochondrial encephalopathy
-
GeldofK, Ramboer K, Goethals JM et al. CT and MRI appearance of mitochondrial encephalopathy. JBR-BTR 2007; 90: 288-289
-
(2007)
JBR-BTR
, vol.90
, pp. 288-289
-
-
Geldof, K.1
Ramboer, K.2
Goethals, J.M.3
-
28
-
-
22844444188
-
Deep white matter pathologic features in watershed regions: A novel pattern of central nervous system involvement in MELAS
-
Apostolova LG, White M, Moore SA et al. Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS. Arch Neurol 2005; 62: 1154- 1156
-
(2005)
Arch Neurol
, vol.62
, pp. 1154-1156
-
-
Apostolova, L.G.1
White, M.2
Moore, S.A.3
-
29
-
-
33645743679
-
Symmetric basal ganglia calcification in a 9-year-old child with MELAS
-
Chung SH, Chen SC, Chen WJ et al. Symmetric basal ganglia calcification in a 9-year-old child with MELAS. Neurology 2005; 65: E19
-
(2005)
Neurology
, vol.65
-
-
Chung, S.H.1
Chen, S.C.2
Chen, W.J.3
-
30
-
-
27344441347
-
Precipitation of stroke-like event by chickenpox in a child with MELAS-syndrome
-
Jian-Ren L. Precipitation of stroke-like event by chickenpox in a child with MELAS-syndrome. Neurol India 2005; 53: 323- 325
-
(2005)
Neurol India
, vol.53
, pp. 323-325
-
-
Jian-Ren, L.1
-
31
-
-
0023270881
-
Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy
-
Ohama E, Ohara S, Ikuta F et al. Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy. Acta Neuropa-thol 1987; 74: 226- 233
-
(1987)
Acta Neuropa-thol
, vol.74
, pp. 226-233
-
-
Ohama, E.1
Ohara, S.2
Ikuta, F.3
-
32
-
-
0024343409
-
-
Sakuta R, Nonaka et al. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989; 25: 594-601
-
Sakuta R, Nonaka et al. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989; 25: 594-601
-
-
-
-
33
-
-
18844415552
-
-
Takahashi N, Shimada T, Murakami Yet al. Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Am J Med Sci 2005; 329: 265-266
-
Takahashi N, Shimada T, Murakami Yet al. Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Am J Med Sci 2005; 329: 265-266
-
-
-
-
34
-
-
0029840031
-
Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes
-
Gilchrist JM, Sikirica M, Stopa E et al. Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes. Stroke 1996; 27: 1420-1423
-
(1996)
Stroke
, vol.27
, pp. 1420-1423
-
-
Gilchrist, J.M.1
Sikirica, M.2
Stopa, E.3
-
35
-
-
45849142222
-
Serial brain imaging analysis of strokelike episodes in MELAS
-
Ito H, Mori K, Harada M et al. Serial brain imaging analysis of strokelike episodes in MELAS. Brain Dev 2008; 30: 483-488
-
(2008)
Brain Dev
, vol.30
, pp. 483-488
-
-
Ito, H.1
Mori, K.2
Harada, M.3
-
36
-
-
0033837143
-
Molnar Setal. Cerebral blood flow and glucose metabolism in mitochondrial disorders
-
Molnar MJ, Valikovics A, Molnar Setal. Cerebral blood flow and glucose metabolism in mitochondrial disorders. Neurology 2000; 55: 544-548
-
(2000)
Neurology
, vol.55
, pp. 544-548
-
-
Molnar, M.J.1
Valikovics, A.2
Molnar, S.3
-
37
-
-
0034032519
-
Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome-xenon CT and PET study
-
Nariai T, Ohno K, Akimoto H et al. Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome-xenon CT and PET study. KeioJ Med 2000; 49(suppl 1): A68-70
-
(2000)
KeioJ Med
, vol.49
, Issue.SUPPL. 1
-
-
Nariai, T.1
Ohno, K.2
Akimoto, H.3
-
38
-
-
0036869686
-
Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation
-
Sakuta R, Honzawa S, Murakami N et al. Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation. Pediatr Neurol 2002; 27: 397-400
-
(2002)
Pediatr Neurol
, vol.27
, pp. 397-400
-
-
Sakuta, R.1
Honzawa, S.2
Murakami, N.3
-
39
-
-
34548258173
-
A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, ence-phalopathy, and complex I deficiency
-
Wong LJ, Yim D, Bai RK et al. A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, ence-phalopathy, and complex I deficiency. J Med Genet 2006; 43: e46
-
(2006)
J Med Genet
, vol.43
-
-
Wong, L.J.1
Yim, D.2
Bai, R.K.3
-
40
-
-
0026566806
-
-
Mizukami K, Sasaki M, Suzuki Tet al. Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.ActaNeuropathol 1992; 83:449-452
-
Mizukami K, Sasaki M, Suzuki Tet al. Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.ActaNeuropathol 1992; 83:449-452
-
-
-
-
41
-
-
0025666322
-
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyo-pathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyo-pathies. Nature 1990; 348: 651-653
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
42
-
-
38149109128
-
-
Chou HF, Liang WC, Zhang Qet al. Clinical and genetic features in a ME-LAS-child with a 3271T>C mutation. Pediatr Neurol 2008; 38: 143-146
-
Chou HF, Liang WC, Zhang Qet al. Clinical and genetic features in a ME-LAS-child with a 3271T>C mutation. Pediatr Neurol 2008; 38: 143-146
-
-
-
-
43
-
-
41349100269
-
Melas associated with mutations in the polg1 gene
-
Tzoulis C, BindoffLA.Melas associated with mutations in the polg1 gene. Neurology 2008; 70: 1054
-
(2008)
Neurology
, vol.70
, pp. 1054
-
-
Tzoulis, C.1
BindoffLA2
-
44
-
-
40849083528
-
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: Evidence from 12 cases
-
Shanske S, Coku J, Lu J et al. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 2008; 65: 368-372
-
(2008)
Arch Neurol
, vol.65
, pp. 368-372
-
-
Shanske, S.1
Coku, J.2
Lu, J.3
-
45
-
-
40249107577
-
Effect of L-arginine on synaptosomal mitochondrial function
-
Hirata K, Akita Y, Povalko N et al. Effect of L-arginine on synaptosomal mitochondrial function. Brain Dev 2008; 30: 238-245
-
(2008)
Brain Dev
, vol.30
, pp. 238-245
-
-
Hirata, K.1
Akita, Y.2
Povalko, N.3
-
46
-
-
33847643298
-
-
Koga Y, Akita Y, Nishioka Jet al. MELAS and L-arginine therapy. Mitochondrion 2007; 7: 133-139
-
Koga Y, Akita Y, Nishioka Jet al. MELAS and L-arginine therapy. Mitochondrion 2007; 7: 133-139
-
-
-
-
47
-
-
33745648369
-
Endothelial dysfunction in MELAS improved by l-arginine supplementation
-
Koga Y, Akita Y, Junko N et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology 2006; 66: 1766-1769
-
(2006)
Neurology
, vol.66
, pp. 1766-1769
-
-
Koga, Y.1
Akita, Y.2
Junko, N.3
-
48
-
-
13844321746
-
-
Koga Y, Akita Y, Nishioka Jet al. L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology 2005; 64: 710- 712
-
Koga Y, Akita Y, Nishioka Jet al. L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology 2005; 64: 710- 712
-
-
-
-
49
-
-
0037066134
-
Ueki Ietal. Effects of L-arginine on the acute phase of strokes in three patients with MELAS
-
Koga Y,Ishibashi M, Ueki Ietal. Effects of L-arginine on the acute phase of strokes in three patients with MELAS. Neurology 2002; 58: 827-828
-
(2002)
Neurology
, vol.58
, pp. 827-828
-
-
Koga, Y.1
Ishibashi, M.2
-
50
-
-
4444325550
-
Mori Metal. Beneficial effect of L-arginine for stroke-like episode in MELAS
-
Kubota M, Sakakihara Y, Mori Metal. Beneficial effect of L-arginine for stroke-like episode in MELAS. Brain Dev 2004; 26: 481-483
-
(2004)
Brain Dev
, vol.26
, pp. 481-483
-
-
Kubota, M.1
Sakakihara, Y.2
-
51
-
-
84977577844
-
-
Sproule DM, Dyme J, Coku Jet al. Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene(m.3243A>G). J Inherit Metab Dis 2008;(in press)
-
Sproule DM, Dyme J, Coku Jet al. Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene(m.3243A>G). J Inherit Metab Dis 2008;(in press)
-
-
-
-
52
-
-
29544436107
-
Platelet mitochondrial evaluation during cytochrome c and dichloroacetate treatments of MELAS
-
Nakano K, Tarashima M, Tachikawa E et al. Platelet mitochondrial evaluation during cytochrome c and dichloroacetate treatments of MELAS. Mitochondrion 2005; 5: 426-433
-
(2005)
Mitochondrion
, vol.5
, pp. 426-433
-
-
Nakano, K.1
Tarashima, M.2
Tachikawa, E.3
-
53
-
-
23444434131
-
A case of stroke-like episode of MELAS of which progressive spread would be prevented by edara-vone
-
Maeda K, Tatsumi M, Tahara M et al A case of stroke-like episode of MELAS of which progressive spread would be prevented by edara-vone. Rinsho Shinkeigaku 2005; 45: 416-421
-
(2005)
Rinsho Shinkeigaku
, vol.45
, pp. 416-421
-
-
Maeda, K.1
Tatsumi, M.2
Tahara, M.3
-
54
-
-
0031797123
-
-
Maruyama S, Yamada T, Ishimoto Yet al. A case of MELAS showing CSF pleocytosis associated with stroke-like episodes. Rinsho Shinkeigaku 1998; 38: 641-644
-
Maruyama S, Yamada T, Ishimoto Yet al. A case of MELAS showing CSF pleocytosis associated with stroke-like episodes. Rinsho Shinkeigaku 1998; 38: 641-644
-
-
-
-
55
-
-
37748999512
-
Mitochondrial complex I ence-phalomyopathy and cerebral 5-methyltetrahydrofolate deficiency
-
Ramaekers VT, Weis J, Sequeira JM et al. Mitochondrial complex I ence-phalomyopathy and cerebral 5-methyltetrahydrofolate deficiency. Neuropediatrics 2007; 38: 184-187
-
(2007)
Neuropediatrics
, vol.38
, pp. 184-187
-
-
Ramaekers, V.T.1
Weis, J.2
Sequeira, J.M.3
-
56
-
-
40849131523
-
Evaluation of long-term treatment of children with congenital lactic acidosis with dichloro-acetate
-
Stacpoole PW, Gilbert LR, Neiberger RE et al. Evaluation of long-term treatment of children with congenital lactic acidosis with dichloro-acetate. Pediatrics 2008; 121: e1223-e1228
-
(2008)
Pediatrics
, vol.121
-
-
Stacpoole, P.W.1
Gilbert, L.R.2
Neiberger, R.E.3
-
57
-
-
34447630233
-
Continuous venovenous hemodia-filtration for life-threatening mitochondrial myopathy with lactic aci-dosis and rhabdomyolysis
-
Inoue S, Nagayama M, Aoki H et al. Continuous venovenous hemodia-filtration for life-threatening mitochondrial myopathy with lactic aci-dosis and rhabdomyolysis. J Intensive Care Med 2007; 22: 240-244
-
(2007)
J Intensive Care Med
, vol.22
, pp. 240-244
-
-
Inoue, S.1
Nagayama, M.2
Aoki, H.3
-
58
-
-
34247849275
-
Statins provoking MELAS syndrome. A case report
-
Thomas JE, Lee N, Thompson PD. Statins provoking MELAS syndrome. A case report. Eur Neurol 2007; 57: 232-235
-
(2007)
Eur Neurol
, vol.57
, pp. 232-235
-
-
Thomas, J.E.1
Lee, N.2
Thompson, P.D.3
-
59
-
-
33847632882
-
Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA
-
Lin CM, Thajeb P. Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA. Metab Brain Dis 2007; 22: 105-109
-
(2007)
Metab Brain Dis
, vol.22
, pp. 105-109
-
-
Lin, C.M.1
Thajeb, P.2
-
60
-
-
37849038090
-
MELAS masquerading as a systemic vasculitis
-
Carroll MB.MELAS masquerading as a systemic vasculitis. J Clin Rheumatol 2007; 13: 334-337
-
(2007)
J Clin Rheumatol
, vol.13
, pp. 334-337
-
-
Carroll, M.B.1
-
61
-
-
33846265321
-
Mitochondrial encephalopathy, lactic aci-dosis and stroke-like syndrome(MELAS): A case report, presentation, and management
-
Patel IB, Sidani M, Zoorob R.Mitochondrial encephalopathy, lactic aci-dosis and stroke-like syndrome(MELAS): a case report, presentation, and management. South Med J2007; 100: 70- 72
-
South Med
, vol.J2007
, Issue.100
, pp. 70-72
-
-
Patel, I.B.1
Sidani, M.2
Zoorob, R.3
-
62
-
-
37849038344
-
MELAS syndrome in a patient with a point mutation in MTTS1
-
Lindberg C, MoslemiAR, OldforsA.MELAS syndrome in a patient with a point mutation in MTTS1. Acta Neurol Scand 2008; 117: 128-132
-
(2008)
Acta Neurol Scand
, vol.117
, pp. 128-132
-
-
Lindberg, C.1
MoslemiAR2
OldforsA3
-
63
-
-
23944464890
-
-
Nakagaki H, Furuya J, Santa Yet al. A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism. Rinsho Shinkeigaku 2005;45: 502-505
-
Nakagaki H, Furuya J, Santa Yet al. A case of MELAS presenting juvenile-onset hyperglycemic chorea-ballism. Rinsho Shinkeigaku 2005;45: 502-505
-
-
-
-
64
-
-
36148988778
-
Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA
-
HenningF, Oey PL, Oerlemans WG et al. Small-fiber neuropathy and the 3243A>G mutation in mitochondrial DNA. J Neurol 2007; 254: 1281-1282
-
(2007)
J Neurol
, vol.254
, pp. 1281-1282
-
-
Henning, F.1
Oey, P.L.2
Oerlemans, W.G.3
-
65
-
-
0034522769
-
Endocrine disorders in two sisters affected by MELAS syndrome
-
Balestri P, Grosso S.Endocrine disorders in two sisters affected by MELAS syndrome. J Child Neurol 2000; 15: 755-758
-
(2000)
J Child Neurol
, vol.15
, pp. 755-758
-
-
Balestri, P.1
Grosso, S.2
-
66
-
-
0027715020
-
-
Morten KJ, Cooper JM, Brown GKet al. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993; 2:2081-2087
-
Morten KJ, Cooper JM, Brown GKet al. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993; 2:2081-2087
-
-
-
-
67
-
-
33846118043
-
Cardiac involvement in adults with m.3243A>G MELAS gene mutation
-
Vydt TC, de Coo RF, Soliman OI et al. Cardiac involvement in adults with m.3243A>G MELAS gene mutation. Am J Cardiol 2007; 99: 264-269
-
(2007)
Am J Cardiol
, vol.99
, pp. 264-269
-
-
Vydt, T.C.1
de Coo, R.F.2
Soliman, O.I.3
-
68
-
-
38749123431
-
Inappropriate intracranial hemody- namics in the natural course of MELAS
-
Nishioka J, Akita Y, Yatsuga S et al. Inappropriate intracranial hemody- namics in the natural course of MELAS. Brain Dev 2008; 30: 100-105
-
(2008)
Brain Dev
, vol.30
, pp. 100-105
-
-
Nishioka, J.1
Akita, Y.2
Yatsuga, S.3
-
69
-
-
6944255619
-
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS
-
Menotti F, Brega A, Diegoli M et al. A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Ital Heart J 2004; 5: 460-465
-
(2004)
Ital Heart J
, vol.5
, pp. 460-465
-
-
Menotti, F.1
Brega, A.2
Diegoli, M.3
-
70
-
-
0027427537
-
Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene
-
Sweeney MG, Bundey S, Brockington M et al. Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene. Q J Med 1993; 86: 709-713
-
(1993)
Q J Med
, vol.86
, pp. 709-713
-
-
Sweeney, M.G.1
Bundey, S.2
Brockington, M.3
-
71
-
-
0042329580
-
-
Jeppesen TD, Schwartz M, Hansen Ket al. Late onset of stroke-like episode associated with a 3256C->int mutation of mitochondrial DNA. J Neurol Sci 2003; 214: 17-20
-
Jeppesen TD, Schwartz M, Hansen Ket al. Late onset of stroke-like episode associated with a 3256C->int mutation of mitochondrial DNA. J Neurol Sci 2003; 214: 17-20
-
-
-
-
72
-
-
0026004614
-
A new mtDNA mutation associated with mi-tochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes(MELAS)
-
Goto Y, Nonaka I, Horai S. A new mtDNA mutation associated with mi-tochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes(MELAS). Biochim Biophys Acta 1991; 1097: 238-240
-
(1991)
Biochim Biophys Acta
, vol.1097
, pp. 238-240
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
73
-
-
34447636774
-
-
MalfattiE, BugianiM, Invernizzi Fet al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 2007; 130: 1894-1904
-
MalfattiE, BugianiM, Invernizzi Fet al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 2007; 130: 1894-1904
-
-
-
-
74
-
-
4744344532
-
OhtakeAetal. Mutations of the mitochondrial ND1 gene asacause of MELAS
-
Kirby DM, McFarland R, OhtakeAetal. Mutations of the mitochondrial ND1 gene asacause of MELAS. J Med Genet 2004; 41: 784-789
-
(2004)
J Med Genet
, vol.41
, pp. 784-789
-
-
Kirby, D.M.1
McFarland, R.2
-
75
-
-
39149109578
-
Isolated cytochrome c oxidase deficiency as a cause of MELAS
-
Rossmanith W, FreilingerM, Roka J et al. Isolated cytochrome c oxidase deficiency as a cause of MELAS. J Med Genet 2008; 45: 117-121
-
(2008)
J Med Genet
, vol.45
, pp. 117-121
-
-
Rossmanith, W.1
Freilinger, M.2
Roka, J.3
-
76
-
-
0026641790
-
Jean-Francois MJetal. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes(MELAS) syndrome affects the ND4 subunit of the respiratory complex I
-
Lertrit P, Noer AS, Jean-Francois MJetal. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes(MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Am J Hum Genet 1992; 51: 457-468
-
(1992)
Am J Hum Genet
, vol.51
, pp. 457-468
-
-
Lertrit, P.1
Noer, A.S.2
-
77
-
-
33846307742
-
Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2(CUN) in a patient with the clinical features of MELAS
-
Abu-Amero KK, Ozand PT, Al-Dhalaan H. Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2(CUN) in a patient with the clinical features of MELAS. J Child Neurol 2006; 21: 971-972
-
(2006)
J Child Neurol
, vol.21
, pp. 971-972
-
-
Abu-Amero, K.K.1
Ozand, P.T.2
Al-Dhalaan, H.3
-
78
-
-
0037235874
-
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
-
Liolitsa D, Rahman S, Benton S et al. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol 2003; 53: 128-132
-
(2003)
Ann Neurol
, vol.53
, pp. 128-132
-
-
Liolitsa, D.1
Rahman, S.2
Benton, S.3
-
79
-
-
14844312924
-
Kaufmann Petal. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
-
Naini AB, LuJ, Kaufmann Petal. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Arch Neurol 2005; 62:473-476
-
(2005)
Arch Neurol
, vol.62
, pp. 473-476
-
-
Naini, A.B.1
Lu, J.2
-
80
-
-
10744223599
-
A missense mutation in the mito-chondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
-
Crimi M, Galbiati S, Moroni I et al. A missense mutation in the mito-chondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 2003; 60: 1857-1861
-
(2003)
Neurology
, vol.60
, pp. 1857-1861
-
-
Crimi, M.1
Galbiati, S.2
Moroni, I.3
-
81
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli FM, Tanji K, Kulikova R et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem BiophysRes Commun 1997; 238: 326-328
-
(1997)
Biochem BiophysRes Commun
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
-
83
-
-
34248586627
-
Rokicka Aetal. MELAS associated with mutations in the POLG1 gene
-
Deschauer M, Tennant S, Rokicka Aetal. MELAS associated with mutations in the POLG1 gene. Neurology 2007; 68: 1741-1742
-
(2007)
Neurology
, vol.68
, pp. 1741-1742
-
-
Deschauer, M.1
Tennant, S.2
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