-
1
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
-
Pavlakis SG, Philips PC, DiMauro S, DeVivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes A distinctive clinical syndrome . Ann Neurol. 16:1984;481-487.
-
(1984)
Ann Neurol
, vol.16
, pp. 481-487
-
-
Pavlakis, S.G.1
Philips, P.C.2
DiMauro, S.3
DeVivo, D.C.4
Rowland, L.P.5
-
2
-
-
0025666322
-
A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y, Nonaka I, Horai S. A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348:1990;651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
3
-
-
0026906885
-
Mutation in mitochondrial tRNA Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland JM, Lemkes HH, Ruitenbeek W, et al. Mutation in mitochondrial tRNA Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1:1992;368-371.
-
(1992)
Nat Genet
, vol.1
, pp. 368-371
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Ruitenbeek, W.3
-
4
-
-
0027268334
-
MELAS point mutation with unusual clinical presentation
-
Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S. MELAS point mutation with unusual clinical presentation. Neuromuscul Disord. 3:1993;191-193.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 191-193
-
-
Shanske, A.L.1
Shanske, S.2
Silvestri, G.3
Tanji, K.4
Wertheim, D.5
Lipper, S.6
-
5
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
Kadowaki T, Kadowaki H, Mori Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med. 330:1994;962-968.
-
(1994)
N Engl J Med
, vol.330
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
-
6
-
-
0026708671
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): A correlative study on clinical features and mitochondrial DNA mutation
-
Goto Y, Horai S, Matsuoka T, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) A correlative study on clinical features and mitochondrial DNA mutation . Neurology. 42:1992;545-550.
-
(1992)
Neurology
, vol.42
, pp. 545-550
-
-
Goto, Y.1
Horai, S.2
Matsuoka, T.3
-
7
-
-
0030015798
-
The A to G transition at nt 3243 of the mitochondrial tRNA Leu(UUR) may cause an MERRF syndrome
-
Fabrizi GM, Cardaloli E, Grieco GS, et al. The A to G transition at nt 3243 of the mitochondrial tRNA Leu(UUR) may cause an MERRF syndrome. J Neurol Neurosurg Psychiatry. 61:1996;45-51.
-
(1996)
J Neurol Neurosurg Psychiatry
, vol.61
, pp. 45-51
-
-
Fabrizi, G.M.1
Cardaloli, E.2
Grieco, G.S.3
-
8
-
-
0029953124
-
A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation
-
Verma A, Morales CT, Shebert RT, Bradley WG. A MERRF/PEO overlap syndrome associated with the mitochondrial DNA 3243 mutation. Neurology. 46:1996;1334-1336.
-
(1996)
Neurology
, vol.46
, pp. 1334-1336
-
-
Verma, A.1
Morales, C.T.2
Shebert, R.T.3
Bradley, W.G.4
-
9
-
-
0028148863
-
Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
Sato W, Tanaka M, Sugiyama S, et al. Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Am Heart J. 128:1994;733-741.
-
(1994)
Am Heart J
, vol.128
, pp. 733-741
-
-
Sato, W.1
Tanaka, M.2
Sugiyama, S.3
-
10
-
-
0029971235
-
The expanding clinical phenotype of the tRNA Leu(UUR) A→G mutation at nt 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy
-
Feigenbaum A, Chitayat D, Robinson B, et al. The expanding clinical phenotype of the tRNA Leu(UUR) A→G mutation at nt 3243 of mitochondrial DNA Diabetic embryopathy associated with mitochondrial cytopathy . Am J Med Genet. 62:1996;404-409.
-
(1996)
Am J Med Genet
, vol.62
, pp. 404-409
-
-
Feigenbaum, A.1
Chitayat, D.2
Robinson, B.3
-
11
-
-
0026795527
-
MELAS: An original case and clinical criteria for diagnosis
-
Hirano M, Ricci E, Koenigsberger MR, et al. MELAS An original case and clinical criteria for diagnosis . Neuromuscul Disord. 2:1992;125-135.
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 125-135
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, M.R.3
-
12
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes CT, Ciacci F, Silvestri G, et al. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromuscul Disord. 3:1993;43-50.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
-
13
-
-
0026585685
-
Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia
-
Quade A, Zierz S, Klingmüller D. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Invest Med. 70:1992;396-402.
-
(1992)
Clin Invest Med
, vol.70
, pp. 396-402
-
-
Quade, A.1
Zierz, S.2
Klingmüller, D.3
-
14
-
-
0029978895
-
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism
-
Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stalberg E. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve. 19:1996;751-757.
-
(1996)
Muscle Nerve
, vol.19
, pp. 751-757
-
-
Melberg, A.1
Lundberg, P.O.2
Henriksson, K.G.3
Olsson, Y.4
Stalberg, E.5
-
15
-
-
0028965237
-
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of complex III deficiency treated with vitamins K3 and C
-
Toscano A, Fazio MC, Vita G, et al. Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of complex III deficiency treated with vitamins K3 and C. Neurology. 242:1995;203-209.
-
(1995)
Neurology
, vol.242
, pp. 203-209
-
-
Toscano, A.1
Fazio, M.C.2
Vita, G.3
-
16
-
-
0027462797
-
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke
-
Mosewich RK, Donat JR, DiMauro S, et al. The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. Arch Neurol. 50:1993;275-278.
-
(1993)
Arch Neurol
, vol.50
, pp. 275-278
-
-
Mosewich, R.K.1
Donat, J.R.2
DiMauro, S.3
|