-
1
-
-
0038412816
-
Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mtDNA deletion
-
Bene J, Nádasi E, Kosztolányi G, et al: Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mtDNA deletion. Eur J Hum Genet 11: 375-379, 2003
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 375-379
-
-
Bene, J.1
Nádasi, E.2
Kosztolányi, G.3
-
2
-
-
0034956801
-
Epidemiology and treatment of mitochondrial disorders
-
Chinnery PF, Turnbull DM: Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 106: 94-101, 2001
-
(2001)
Am J Med Genet
, vol.106
, pp. 94-101
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
3
-
-
0028818655
-
Clinical spectrum of the MELAS mutation in a large pedigree
-
Damian MS, Seibel P, Reichmann H, et al: Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 92: 409-415, 1995
-
(1995)
Acta Neurol Scand
, vol.92
, pp. 409-415
-
-
Damian, M.S.1
Seibel, P.2
Reichmann, H.3
-
4
-
-
0034444472
-
Mitochondrial encephalomyopathies: Therapeutic approaches
-
DiMauro S, Hirano M, Schon EA: Mitochondrial encephalomyopathies: therapeutic approaches. Neurol Sci 21: S901-S908, 2000
-
(2000)
Neurol Sci
, vol.21
-
-
Dimauro, S.1
Hirano, M.2
Schon, E.A.3
-
5
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro S, Schon EA: Mitochondrial DNA mutations in human disease. Am J Med Genet 106: 18-26, 2001
-
(2001)
Am J Med Genet
, vol.106
, pp. 18-26
-
-
Dimauro, S.1
Schon, E.A.2
-
6
-
-
0036372802
-
Clinical features and genetics of myoclonic epilepsy with ragged red fibers
-
DiMauro S, Hirano M, Kaufmann P, et al: Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 89: 217-229, 2002
-
(2002)
Adv Neurol
, vol.89
, pp. 217-229
-
-
Dimauro, S.1
Hirano, M.2
Kaufmann, P.3
-
7
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S, Schon EA: Mitochondrial respiratory-chain diseases. N Engl J Med 348: 2656-2668, 2003
-
(2003)
N Engl J Med
, vol.348
, pp. 2656-2668
-
-
Dimauro, S.1
Schon, E.A.2
-
8
-
-
0033058511
-
Mitochondrial deafness mutations reviewed
-
Fischel-Ghodsian N: Mitochondrial deafness mutations reviewed. Hum Mut 13: 261-270, 1999
-
(1999)
Hum Mut
, vol.13
, pp. 261-270
-
-
Fischel-Ghodsian, N.1
-
10
-
-
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: 651-653, 1990
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.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: 125-135, 1992
-
(1992)
Neuromuscul Disord
, vol.2
, pp. 125-135
-
-
Hirano, M.1
Ricci, E.2
Koenigsberger, M.R.3
-
12
-
-
0036428316
-
Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
-
Huang CC, Kuo HC, Chu CC, et al: Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci 9: 527-533, 2002
-
(2002)
J Biomed Sci
, vol.9
, pp. 527-533
-
-
Huang, C.C.1
Kuo, H.C.2
Chu, C.C.3
-
14
-
-
0031418573
-
Mitochondrial deafness
-
Jacobs HT: Mitochondrial deafness. Ann Med 29: 438-491, 1997
-
(1997)
Ann Med
, vol.29
, pp. 438-491
-
-
Jacobs, H.T.1
-
15
-
-
0025534162
-
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
Kobayashi Y, Momoi MY, Tominaga K, et al: A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822, 1990
-
(1990)
Biochem Biophys Res Commun
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
-
16
-
-
16544392067
-
The A3243G mitochondrial DNA mutation in a Hungarian family
-
Komlósi K, Bene J, Havasi V, et al: The A3243G mitochondrial DNA mutation in a Hungarian family (In Hungarian). Orv Heti 35: 1805-1809, 2004
-
(2004)
Orv Heti
, vol.35
, pp. 1805-1809
-
-
Komlósi, K.1
Bene, J.2
Havasi, V.3
-
17
-
-
0030758778
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy
-
Lam CW, Lau CH, Williams JC, et al.: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr 156: 562-564, 1997
-
(1997)
Eur J Pediatr
, vol.156
, pp. 562-564
-
-
Lam, C.W.1
Lau, C.H.2
Williams, J.C.3
-
18
-
-
0027328501
-
Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation
-
Macmillan C, Lach B, Shoubridge EA: Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 43: 1586-1590, 1993
-
(1993)
Neurology
, vol.43
, pp. 1586-1590
-
-
Macmillan, C.1
Lach, B.2
Shoubridge, E.A.3
-
19
-
-
0027957559
-
Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues
-
Matthews PM, Hopkin J, Brown RM, et al: Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 31: 41-44, 1994
-
(1994)
J Med Genet
, vol.31
, pp. 41-44
-
-
Matthews, P.M.1
Hopkin, J.2
Brown, R.M.3
-
21
-
-
0023889006
-
MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission
-
Montagna P, Gallassi R, Medori R, et al: MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38: 751-754, 1998
-
(1998)
Neurology
, vol.38
, pp. 751-754
-
-
Montagna, P.1
Gallassi, R.2
Medori, R.3
-
22
-
-
0034951326
-
Clinical spectrum and diagnosis of mitochondrial disorders
-
Munnich A, Rustin P: Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106: 4-17, 2001
-
(2001)
Am J Med Genet
, vol.106
, pp. 4-17
-
-
Munnich, A.1
Rustin, P.2
-
24
-
-
0032516823
-
Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome
-
Ozawa M, Nonaka I, Goto Y: Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome. J Neurol Sci 159: 170-175, 1998
-
(1998)
J Neurol Sci
, vol.159
, pp. 170-175
-
-
Ozawa, M.1
Nonaka, I.2
Goto, Y.3
-
25
-
-
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 16: 481-488, 1984
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
Dimauro, S.3
-
26
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant TR, Agapian JV, Bohlman MC, et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4: 289-294, 1993
-
(1993)
Nat Genet
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
Agapian, J.V.2
Bohlman, M.C.3
-
27
-
-
0036857387
-
Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)
-
Pronicki M, Sykut-Cegielska J, Mierzewska H, et al: Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation). Med Sci Monit 8: CR767-CR773, 2002
-
(2002)
Med Sci Monit
, vol.8
-
-
Pronicki, M.1
Sykut-Cegielska, J.2
Mierzewska, H.3
-
28
-
-
0026462744
-
Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
-
Reardon W, Ross RJM, Sweeney MG, et al: Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379, 1992
-
(1992)
Lancet
, vol.340
, pp. 1376-1379
-
-
Reardon, W.1
Ross, R.J.M.2
Sweeney, M.G.3
-
29
-
-
0031053733
-
Maternally inherited cardiomyopathy: A new phenotype associated with the a to G at nt.3243 of mitochondrial DNA (MELAS mutation)
-
Silvestri G, Bertini E, Servidei S, et al: Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 20: 221-225, 1997
-
(1997)
Muscle Nerve
, vol.20
, pp. 221-225
-
-
Silvestri, G.1
Bertini, E.2
Servidei, S.3
-
30
-
-
0041622781
-
Temporal bone histopathology and quantitative analysis of mitochondrial DNA in MELAS
-
Takahashi K, Merchant SN, Miyazawa T, et al: Temporal bone histopathology and quantitative analysis of mitochondrial DNA in MELAS. Laryngoscope 113: 1362-1368, 2003
-
(2003)
Laryngoscope
, vol.113
, pp. 1362-1368
-
-
Takahashi, K.1
Merchant, S.N.2
Miyazawa, T.3
-
31
-
-
0034949930
-
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
-
Thorburn DR, Dahl HH: Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 106: 102-114, 2001
-
(2001)
Am J Med Genet
, vol.106
, pp. 102-114
-
-
Thorburn, D.R.1
Dahl, H.H.2
-
32
-
-
0026906885
-
(UUR) gene in a large pedigree with maternally transmitted Type II diabetes mellitus and deafness
-
(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.W.1
Lemkes, H.H.P.J.2
Ruitenbeek, W.3
-
33
-
-
0034643491
-
Genetic causes of hearing loss
-
Willems PJ: Genetic causes of hearing loss. N Engl J Med 342: 1101-1109, 2000
-
(2000)
N Engl J Med
, vol.342
, pp. 1101-1109
-
-
Willems, P.J.1
-
34
-
-
0033549028
-
Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation
-
Yamasoba T, Tsukuda K, Oka Y, et al: Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation. Neurology 52: 1705-1707, 1999
-
(1999)
Neurology
, vol.52
, pp. 1705-1707
-
-
Yamasoba, T.1
Tsukuda, K.2
Oka, Y.3
|