-
1
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
Di Mauro S, Moraes CT. Mitochondrial encephalomyopathies. Arch Neurol 50: 1197-1208, 1993.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
Di Mauro, S.1
Moraes, C.T.2
-
2
-
-
0025009303
-
Kearns-Sayre syndrome presenting as a renal tubular acidosis
-
Eviatar L, Shanske S, Gauthier B, et al. Kearns-Sayre syndrome presenting as a renal tubular acidosis. Neurology 40: 1761-1763, 1990.
-
(1990)
Neurology
, vol.40
, pp. 1761-1763
-
-
Eviatar, L.1
Shanske, S.2
Gauthier, B.3
-
3
-
-
0025314193
-
Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome
-
Goto Y, Itami N, Kajii N, Tochimaru H, Endo M, Horai S. Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome. J Pediatr 116: 904-910, 1990.
-
(1990)
J Pediatr
, vol.116
, pp. 904-910
-
-
Goto, Y.1
Itami, N.2
Kajii, N.3
Tochimaru, H.4
Endo, M.5
Horai, S.6
-
4
-
-
0026041854
-
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion
-
Majander A, Suomalainen A, Vettenranta K, et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res 30: 327-330, 1991.
-
(1991)
Pediatr Res
, vol.30
, pp. 327-330
-
-
Majander, A.1
Suomalainen, A.2
Vettenranta, K.3
-
5
-
-
0028288589
-
Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome
-
Niaudet P, Heidet L, Munnich A, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 8: 164-168, 1994.
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 164-168
-
-
Niaudet, P.1
Heidet, L.2
Munnich, A.3
-
7
-
-
10544228132
-
Mitochondrial encephalomyopathies preceded by de Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis
-
Mochizuki H, Joh K, Kawame H, et al. Mitochondrial encephalomyopathies preceded by de Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis. Clin Nephrol 46: 347-352, 1996.
-
(1996)
Clin Nephrol
, vol.46
, pp. 347-352
-
-
Mochizuki, H.1
Joh, K.2
Kawame, H.3
-
8
-
-
0027055141
-
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extraneuromuscular abnormalities
-
Ban S, Mori N, Saito K, Mizukami K. Suzuki T, Shiraishi H. An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extraneuromuscular abnormalities. Acta Pathol Jpn 42: 818-825, 1992.
-
(1992)
Acta Pathol Jpn
, vol.42
, pp. 818-825
-
-
Ban, S.1
Mori, N.2
Saito, K.3
Mizukami, K.4
Suzuki, T.5
Shiraishi, H.6
-
9
-
-
0024433287
-
Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS)
-
Yoneda M, Tanaka M, Nishikimi M, et al. Pleiotropic molecular defects in energy-transducing complexes in mitochondrial encephalomyopathy (MELAS). J Neurol Sci 92: 143-158, 1989.
-
(1989)
J Neurol Sci
, vol.92
, pp. 143-158
-
-
Yoneda, M.1
Tanaka, M.2
Nishikimi, M.3
-
10
-
-
0027366560
-
Successful mitral valve replacement for MELAS
-
Matsusita T, Sano T, Nakano S, Matsuda H, Okada S. Successful mitral valve replacement for MELAS. Pediatr Neurol 9: 391-393, 1993.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 391-393
-
-
Matsusita, T.1
Sano, T.2
Nakano, S.3
Matsuda, H.4
Okada, S.5
-
11
-
-
0027939581
-
LEU(UUR) gene: A study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
-
LEU(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diabetologia 37: 818-825, 1994.
-
(1994)
Diabetologia
, vol.37
, pp. 818-825
-
-
Suzuki, S.1
Hinokio, Y.2
Hirai, S.3
-
12
-
-
0030358021
-
Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy
-
Hsieh F, Gohh R, Dworkin L. Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. J Am Soc Nephrol 7: 647-652, 1996.
-
(1996)
J Am Soc Nephrol
, vol.7
, pp. 647-652
-
-
Hsieh, F.1
Gohh, R.2
Dworkin, L.3
-
13
-
-
0029200419
-
Kidney involvement in mitochondrial disorders
-
Rötig A, Lehnert A, Rustin P, et al. Kidney involvement in mitochondrial disorders. Adv Nephrol 24: 367-378, 1995.
-
(1995)
Adv Nephrol
, vol.24
, pp. 367-378
-
-
Rötig, A.1
Lehnert, A.2
Rustin, P.3
-
14
-
-
0028908586
-
Deletion of mitochondrial DNA in a patient with chronic tubulointerstitial nephritis
-
Rötig A, Goutieres F, Niaudet P, et al. Deletion of mitochondrial DNA in a patient with chronic tubulointerstitial nephritis. J Pediatr 126: 597-601, 1995.
-
(1995)
J Pediatr
, vol.126
, pp. 597-601
-
-
Rötig, A.1
Goutieres, F.2
Niaudet, P.3
-
15
-
-
0026569283
-
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia
-
Rötig A, Bessis J-L, Romero N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 50: 364-370, 1992.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 364-370
-
-
Rötig, A.1
Bessis, J.-L.2
Romero, N.3
-
16
-
-
0030471049
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with chronic renal failure: Report of mother-child cases
-
in Japanese, Abstract in English
-
Ihara M, Tanaka H, Yashiro M, Nishimura Y. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with chronic renal failure: Report of mother-child cases. Rinshosinkeigaku (Clin Neurol) 36: 1069-1073, 1996 (in Japanese, Abstract in English).
-
(1996)
Rinshosinkeigaku (Clin Neurol)
, vol.36
, pp. 1069-1073
-
-
Ihara, M.1
Tanaka, H.2
Yashiro, M.3
Nishimura, Y.4
-
17
-
-
0030171199
-
Follow-up studies and disorders of endocrinologie function in MELAS syndrome
-
Robeck S, Stefan H, Engelhardt A, Neundörfer B. Follow-up studies and disorders of endocrinologie function in MELAS syndrome. Nervenarzt 67: 465-470, 1996.
-
(1996)
Nervenarzt
, vol.67
, pp. 465-470
-
-
Robeck, S.1
Stefan, H.2
Engelhardt, A.3
Neundörfer, B.4
-
18
-
-
0033546906
-
Age and cause of death in mitochondrial diseases
-
Klopstock T, Jaksch M, Gasser T. Age and cause of death in mitochondrial diseases. Neurology 53: 855-857, 1999.
-
(1999)
Neurology
, vol.53
, pp. 855-857
-
-
Klopstock, T.1
Jaksch, M.2
Gasser, T.3
-
20
-
-
0025666322
-
leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
21
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
-
see comments
-
Reardon W, Ross RJ, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379, 1992 (see comments).
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.J.2
Sweeney, M.G.3
-
22
-
-
0026906885
-
leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1: 368-371, 1992.
-
(1992)
Nat Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
-
23
-
-
0027474253
-
Mitochondrial gene mutation in insulin-deficient type of diabetes mellitus
-
letter
-
Kadowaki H, Tobe K, Mori Y, et al. Mitochondrial gene mutation in insulin-deficient type of diabetes mellitus. Lancet 341: 893-894, 1993 (letter).
-
(1993)
Lancet
, vol.341
, pp. 893-894
-
-
Kadowaki, H.1
Tobe, K.2
Mori, Y.3
-
26
-
-
0031774828
-
A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation
-
Kurogouchi F, Oguchi T, Mawatari E, et al. A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation. Am J Nephrol 18: 551-556, 1998.
-
(1998)
Am J Nephrol
, vol.18
, pp. 551-556
-
-
Kurogouchi, F.1
Oguchi, T.2
Mawatari, E.3
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