-
1
-
-
78651128209
-
Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions
-
Nass MM, Nass S. Intramitochondrial fibers with DNA characteristics. I. Fixation and electron staining reactions. J Cell Biol 1963;19:593-611.
-
(1963)
J Cell Biol
, vol.19
, pp. 593-611
-
-
Nass, M.M.1
Nass, S.2
-
2
-
-
0019423856
-
Sequence and organization of human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of human mitochondrial genome. Nature 1981;290:457-65.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
3
-
-
0025371499
-
Oxidative phosphorylation diseases. Disorders of two genomes
-
Harris H, Hirschhorn K, eds. Plenum
-
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. Disorders of two genomes. In: Harris H, Hirschhorn K, eds. Advances in Human Genetics. Plenum, 1990;19:267-330.
-
(1990)
Advances in Human Genetics
, vol.19
, pp. 267-330
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
4
-
-
0025328563
-
Mitochondrial myopathy with a defect of mitochondrial protein transport
-
Schapira AHV, Cooper JM, Morgan-Hughes JA, et al. Mitochondrial myopathy with a defect of mitochondrial protein transport. N Engl J Med 1990;323:37.
-
(1990)
N Engl J Med
, vol.323
, pp. 37
-
-
Schapira, A.H.V.1
Cooper, J.M.2
Morgan-Hughes, J.A.3
-
5
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial disease
-
Moraes CT, Shanske S, Tritschler HJ, et al. MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial disease. Am J Hum Genet 1991;48:492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
6
-
-
0003093471
-
Mitochondrial diseases
-
Engel AG, Franzini-Armstrong C. New York: McGraw-Hill
-
nd edition. New York: McGraw-Hill, 1994:1622-3.
-
(1994)
nd Edition
, vol.2
, pp. 1622-1623
-
-
Morgan-Hughes, J.A.1
-
7
-
-
33749470927
-
Metabolic myopathies
-
Rowland LP, DiMauro S, eds. Elsevier Science
-
DiMauro S, Tonin P, Servidei S. Metabolic myopathies. In: Rowland LP, DiMauro S, eds. Myopathies, Handbook of Clinical Neurology. Elsevier Science, 1992;18:496-7.
-
(1992)
Myopathies, Handbook of Clinical Neurology
, vol.18
, pp. 496-497
-
-
DiMauro, S.1
Tonin, P.2
Servidei, S.3
-
8
-
-
33846064419
-
Mitochondrial genes in degenerative diseases, cancer and aging
-
Rimon DL, Connor JM, Pyeritz RE, Korf BR, eds. London: Churchill Livingstone
-
th edition. London: Churchill Livingstone, 2002;1:299-409.
-
(2002)
th Edition
, vol.1
, pp. 299-409
-
-
Wallace, D.C.1
Lott, M.T.2
-
9
-
-
0027311193
-
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA
-
Graf WD, Sumi SM, Copass MK, et al. Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA. Ann Neurol 1993;33:640-45.
-
(1993)
Ann Neurol
, vol.33
, pp. 640-645
-
-
Graf, W.D.1
Sumi, S.M.2
Copass, M.K.3
-
10
-
-
78651126508
-
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical, and morphological study
-
Luft R, Ikkos D, Palmieri G, Emster L, Afzelius B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest 1962;41:1776-804.
-
(1962)
J Clin Invest
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Emster, L.4
Afzelius, B.5
-
11
-
-
0001698695
-
Rapid examination of muscle tissue: An improved trichrome method for fresh-frozen biopsy sections
-
Engel WK, Cunningham GC. Rapid examination of muscle tissue: an improved trichrome method for fresh-frozen biopsy sections. Neurology 1963;13:919-23.
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunningham, G.C.2
-
12
-
-
0000027470
-
Human myopathy with giant abnormal mitochondria
-
Shy GM, Gonatas NK. Human myopathy with giant abnormal mitochondria. Science 1964;145:493-6.
-
(1964)
Science
, vol.145
, pp. 493-496
-
-
Shy, G.M.1
Gonatas, N.K.2
-
13
-
-
0013887753
-
Two childhood myopathies with abnormal mitochondria: I. Megoconial myopathy. II. Pleoconial myopathy
-
Shy GM, Gonatas NK, Perez M. Two childhood myopathies with abnormal mitochondria: I. Megoconial myopathy. II. Pleoconial myopathy. Brain 1966;89:133-58.
-
(1966)
Brain
, vol.89
, pp. 133-158
-
-
Shy, G.M.1
Gonatas, N.K.2
Perez, M.3
-
14
-
-
0017346294
-
Mitochondrial encephalomyopathies: A group of neuromuscular disorders with defects in oxidative metabolism
-
Shapira Y, Harel S, Russell A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci 1977;13:161-4.
-
(1977)
Isr J Med Sci
, vol.13
, pp. 161-164
-
-
Shapira, Y.1
Harel, S.2
Russell, A.3
-
15
-
-
0033988154
-
Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA
-
Thajeb P, Lee HC, Pang CY, Jeng CM, Huang SF, Wei YH. Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA. Chin Med J (Taipei) 2000;63:71-6.
-
(2000)
Chin Med J (Taipei)
, vol.63
, pp. 71-76
-
-
Thajeb, P.1
Lee, H.C.2
Pang, C.Y.3
Jeng, C.M.4
Huang, S.F.5
Wei, Y.H.6
-
16
-
-
0001294889
-
Mitochondria and neuroophthalmologic diseases
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
th edition. New York: McGraw-Hill, 2001:2425-509.
-
(2001)
th Edition
, vol.2
, pp. 2425-2509
-
-
Wallace, D.C.1
Lott, M.T.2
Brown, M.D.3
Kerstann, K.4
-
17
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717.
-
(1988)
Nature
, vol.331
, pp. 717
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
18
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-9.
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
Nakase, H.4
Zeviani, M.5
DiMauro, S.6
-
19
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-9.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
-
20
-
-
0024317560
-
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
-
Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC. Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci USA 1989;86:7952-6.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Voljavec, A.S.3
Soueidan, S.A.4
Costigan, D.A.5
Wallace, D.C.6
-
22
-
-
0027288377
-
The mitochondrial DNA transfer RNA(Lys)A to G(3243) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
Hammans SR, Sweeney MG, Brockington M, et al. The mitochondrial DNA transfer RNA(Lys)A to G(3243) mutation and the syndrome of myoclonic epilepsy with ragged-red fibers (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993;116:617-32.
-
(1993)
Brain
, vol.116
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
-
23
-
-
0029077496
-
The mitochondrial DNA transfer RNALeu(UUR) A to G(3243) mutation. A clinical and genetic study
-
Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE. The mitochondrial DNA transfer RNALeu(UUR) A to G(3243) mutation. A clinical and genetic study. Brain 1995;118:721-34.
-
(1995)
Brain
, vol.118
, pp. 721-734
-
-
Hammans, S.R.1
Sweeney, M.G.2
Hanna, M.G.3
Brockington, M.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
24
-
-
0030791665
-
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
-
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713-21.
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
Turnbull, D.M.4
-
25
-
-
0242300145
-
MELAS with point mutations involving tRNALeu (A3243G) and tRNAGlu (14693G)
-
Tzen CY, Thajeb P, Wu TY, Chen SC. MELAS with point mutations involving tRNALeu (A3243G) and tRNAGlu (14693G). Muscle Nerve 2003;28:575-81.
-
(2003)
Muscle Nerve
, vol.28
, pp. 575-581
-
-
Tzen, C.Y.1
Thajeb, P.2
Wu, T.Y.3
Chen, S.C.4
-
26
-
-
33646089407
-
Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA
-
Thajeb P, Ma YS, Tzen CY, Chuang CK, Wu TY, Chen SC, Wei YH. Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3,399 bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA. Clin Neurol Neurosurg 2006;108:407-10.
-
(2006)
Clin Neurol Neurosurg
, vol.108
, pp. 407-410
-
-
Thajeb, P.1
Ma, Y.S.2
Tzen, C.Y.3
Chuang, C.K.4
Wu, T.Y.5
Chen, S.C.6
Wei, Y.H.7
-
27
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: A distinctive clinical syndrome
-
Pavlakis SG, Phillips PC, DiMauro S, deVivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481-8.
-
(1984)
Ann Neurol
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
Dimauro, S.3
Devivo, D.C.4
Rowland, L.P.5
-
28
-
-
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
-
29
-
-
11144288974
-
Cerebral lactic acidosis correlates with neurological impairment in MELAS
-
Abe K. Cerebral lactic acidosis correlates with neurological impairment in MELAS. Neurology 2004;63:2458.
-
(2004)
Neurology
, vol.63
, pp. 2458
-
-
Abe, K.1
-
30
-
-
2442547630
-
Koshevnikov syndrome in a patient with MELAS plus syndrome: Electron microscopic and neuroimage studies
-
Thajeb P, Huang KM, Chi EY, Shih CC, Su ML, Huang JS. Koshevnikov syndrome in a patient with MELAS plus syndrome: electron microscopic and neuroimage studies. Chin Med J (Taipei) 1997;110:726-30.
-
(1997)
Chin Med J (Taipei)
, vol.110
, pp. 726-730
-
-
Thajeb, P.1
Huang, K.M.2
Chi, E.Y.3
Shih, C.C.4
Su, M.L.5
Huang, J.S.6
-
31
-
-
25144506627
-
Basal ganglia calcification in mitochondrial disorders
-
Finsterer J, Kopsa W. Basal ganglia calcification in mitochondrial disorders. Metab Brain Dis 2005;20:219-26.
-
(2005)
Metab Brain Dis
, vol.20
, pp. 219-226
-
-
Finsterer, J.1
Kopsa, W.2
-
32
-
-
0141790126
-
Roles for imaging in understanding the pathophysiology, clinical evaluation, and management of patients with mitochondrial disease
-
Parry A, Matthews PM. Roles for imaging in understanding the pathophysiology, clinical evaluation, and management of patients with mitochondrial disease. J Neuroimaging 2003;13:293-302.
-
(2003)
J Neuroimaging
, vol.13
, pp. 293-302
-
-
Parry, A.1
Matthews, P.M.2
-
33
-
-
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, Davis PH. Deep white matter pathologic features in watershed regions: a novel pattern of central nervous system involvement in MELAS. Arch Neurol 2005;62:1154-6.
-
(2005)
Arch Neurol
, vol.62
, pp. 1154-1156
-
-
Apostolova, L.G.1
White, M.2
Moore, S.A.3
Davis, P.H.4
-
34
-
-
12844250726
-
White matter involvement in mitochondrial diseases
-
Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Luckman Y, Lev D. White matter involvement in mitochondrial diseases. Mol Genet Metab 2005;84:127-36.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 127-136
-
-
Lerman-Sagie, T.1
Leshinsky-Silver, E.2
Watemberg, N.3
Luckman, Y.4
Lev, D.5
-
36
-
-
0034000525
-
Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT
-
Peng NJ, Liu RS, Li JY, et al. Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT. Neuroradiology 2000;42:26-29.
-
(2000)
Neuroradiology
, vol.42
, pp. 26-29
-
-
Peng, N.J.1
Liu, R.S.2
Li, J.Y.3
-
37
-
-
22044446263
-
Brain SPECT studies in patients with A3243G mutation of the mitochondrial DNA
-
Thajeb P, Wu MC, Shih BF, Tzen CY, Chiang MF, Yuan RY. Brain SPECT studies in patients with A3243G mutation of the mitochondrial DNA. Ann N Y Acad Sci 2005;1042:48-54.
-
(2005)
Ann N Y Acad Sci
, vol.1042
, pp. 48-54
-
-
Thajeb, P.1
Wu, M.C.2
Shih, B.F.3
Tzen, C.Y.4
Chiang, M.F.5
Yuan, R.Y.6
-
38
-
-
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 1990;348:651-3.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
39
-
-
0027163613
-
Ophthalmologic manifestations in MELAS syndrome
-
Fang W, Huang CC, Lee CC, et al. Ophthalmologic manifestations in MELAS syndrome. Arch Neurol 1993;50:977-80.
-
(1993)
Arch Neurol
, vol.50
, pp. 977-980
-
-
Fang, W.1
Huang, C.C.2
Lee, C.C.3
-
40
-
-
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 1993;43:1586-90.
-
(1993)
Neurology
, vol.43
, pp. 1586-1590
-
-
Macmillan, C.1
Lach, B.2
Shoubridge, E.A.3
-
41
-
-
0028072138
-
MELAS syndrome correlation between clinical features and molecular genetic analysis
-
Liou CW, Huang CC, Chee EC, et al. MELAS syndrome correlation between clinical features and molecular genetic analysis. Acta Neurol Scand 1994;90:354-9.
-
(1994)
Acta Neurol Scand
, vol.90
, pp. 354-359
-
-
Liou, C.W.1
Huang, C.C.2
Chee, E.C.3
-
42
-
-
22044457090
-
The study of A3243G and G13513A mitochondria DNA point mutation in patients with cerebral infarction
-
Zhang Y, Li JF, Wang FY, Li CX. The study of A3243G and G13513A mitochondria DNA point mutation in patients with cerebral infarction. Chin Med J (Beijing) 2001;114:129-35.
-
(2001)
Chin Med J (Beijing)
, vol.114
, pp. 129-135
-
-
Zhang, Y.1
Li, J.F.2
Wang, F.Y.3
Li, C.X.4
-
43
-
-
0027419495
-
Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
-
Tokunago M, Mita S, Sakuta R, Nonaka I, Araki S. Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Ann Neurol 1993;33:275-80.
-
(1993)
Ann Neurol
, vol.33
, pp. 275-280
-
-
Tokunago, M.1
Mita, S.2
Sakuta, R.3
Nonaka, I.4
Araki, S.5
-
44
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Shoffner JM, Wallace DC. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw-Hill, 1995:1535-609.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1535-1609
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
45
-
-
0026764974
-
The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations
-
Kobayashi Y, Ichihashi K, Ohta S, et al. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations. J Inherit Metab Dis 1992;15:803-8.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 803-808
-
-
Kobayashi, Y.1
Ichihashi, K.2
Ohta, S.3
-
46
-
-
0027190874
-
Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
-
Silvestri G, Ciafaloni E, Santorelli FM, et al. Clinical features associated with the A to G transition at nucleotide 8344 of mtDNA ("MERRF mutation"). Neurology 1993;43:1200-6.
-
(1993)
Neurology
, vol.43
, pp. 1200-1206
-
-
Silvestri, G.1
Ciafaloni, E.2
Santorelli, F.M.3
-
47
-
-
0027158055
-
Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients
-
Tanno Y, Yoneda M, Tanaka K, et al. Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients. Neurology 1993;43:1198-200.
-
(1993)
Neurology
, vol.43
, pp. 1198-1200
-
-
Tanno, Y.1
Yoneda, M.2
Tanaka, K.3
-
48
-
-
1542573338
-
Mitochondrial encephalomyopathies: Gene mutation
-
Servidei S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul Disord 2004;14:107-16.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 107-116
-
-
Servidei, S.1
-
49
-
-
26944466776
-
The expanding phenotype of mitochondrial myopathy
-
DiMauro S, Gurgel-Giannetti J. The expanding phenotype of mitochondrial myopathy. Curr Opin Neurol 2005;18:538-42.
-
(2005)
Curr Opin Neurol
, vol.18
, pp. 538-542
-
-
DiMauro, S.1
Gurgel-Giannetti, J.2
-
50
-
-
0029135075
-
CPEO and carnitine deficiency overlapping in MELAS syndrome
-
Hsu CC, Chuang YH, Tsai JL, et al. CPEO and carnitine deficiency overlapping in MELAS syndrome. Acta Neurol Scand 1995;92:252-5.
-
(1995)
Acta Neurol Scand
, vol.92
, pp. 252-255
-
-
Hsu, C.C.1
Chuang, Y.H.2
Tsai, J.L.3
-
51
-
-
84924635809
-
Retinitis pigmentosa, external ophthalmoplegia and complete heart block
-
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Ophthalmology 1958;60:280-9.
-
(1958)
Ophthalmology
, vol.60
, pp. 280-289
-
-
Kearns, T.P.1
Sayre, G.P.2
-
52
-
-
0034943837
-
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
-
Seneca S, Verhelst H, deMeirleir L, et al. A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001;58:1113-8.
-
(2001)
Arch Neurol
, vol.58
, pp. 1113-1118
-
-
Seneca, S.1
Verhelst, H.2
DeMeirleir, L.3
-
53
-
-
0025840368
-
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?
-
Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW, DiMauro S. Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? Am J Med Genet 1991;41:301-5.
-
(1991)
Am J Med Genet
, vol.41
, pp. 301-305
-
-
Moraes, C.T.1
Zeviani, M.2
Schon, E.A.3
Hickman, R.O.4
Vlcek, B.W.5
DiMauro, S.6
-
54
-
-
0000376151
-
Subacute necrotizing encephalomyelopathy in an infant
-
Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216-21.
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 216-221
-
-
Leigh, D.1
-
56
-
-
0015293286
-
Subacute necrotizing encephalomyelopathy (Leigh's disease): A consideration of clinical features and etiology
-
Pincus JH. Subacute necrotizing encephalomyelopathy (Leigh's disease): a consideration of clinical features and etiology. Dev Med Child Neurol 1972;14:87-101.
-
(1972)
Dev Med Child Neurol
, vol.14
, pp. 87-101
-
-
Pincus, J.H.1
-
57
-
-
0015898671
-
Leigh's syndrome: The adult form of subacute necrotizing encephalomyelopathy with predilection for the brainstem
-
Sipe JC. Leigh's syndrome: the adult form of subacute necrotizing encephalomyelopathy with predilection for the brainstem. Neurology 1973;23:1030-8.
-
(1973)
Neurology
, vol.23
, pp. 1030-1038
-
-
Sipe, J.C.1
-
58
-
-
0014317136
-
Leigh's encephalomyelopathy: An inborn error of gluconeogenesis
-
Hommes FA, Polman HA, Reerink JD. Leigh's encephalomyelopathy: an inborn error of gluconeogenesis. Arch Dis Child 1968;43:423-6.
-
(1968)
Arch Dis Child
, vol.43
, pp. 423-426
-
-
Hommes, F.A.1
Polman, H.A.2
Reerink, J.D.3
-
59
-
-
0036895391
-
Co-enzyme Q-responsive Leigh's encephalopathy in two sisters
-
Van Maldergem L, Trijbels F, DiMauro S, et al. Co-enzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol 2002;52:750-4.
-
(2002)
Ann Neurol
, vol.52
, pp. 750-754
-
-
Van Maldergem, L.1
Trijbels, F.2
DiMauro, S.3
-
60
-
-
1942453308
-
The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved byantioxidants
-
Mattiazzi M, Vijayvergiya C, Gajewski CD, et al. The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved byantioxidants. Hum Mol Genet 2004;13:869-79.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 869-879
-
-
Mattiazzi, M.1
Vijayvergiya, C.2
Gajewski, C.D.3
-
61
-
-
0034484786
-
Mitochondrial DNA point mutation T9176C in Leigh syndrome
-
Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S. Mitochondrial DNA point mutation T9176C in Leigh syndrome. J Child Neurol 2000;15:830-3.
-
(2000)
J Child Neurol
, vol.15
, pp. 830-833
-
-
Wilson, C.J.1
Wood, N.W.2
Leonard, J.V.3
Surtees, R.4
Rahman, S.5
-
62
-
-
0036592883
-
Neuropathologic and clinical features in eight Chinese patients with Leigh disease
-
Jiang YW, Qin J, Yuan Y, Qi Y, Wu XR. Neuropathologic and clinical features in eight Chinese patients with Leigh disease. J Child Neurol 2002;17:450-2.
-
(2002)
J Child Neurol
, vol.17
, pp. 450-452
-
-
Jiang, Y.W.1
Qin, J.2
Yuan, Y.3
Qi, Y.4
Wu, X.R.5
-
63
-
-
0036224544
-
White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation
-
Lev D, Yanoov-Sharav M, Watemberg N, Leshinsky-Silver E, Lerman-Sagie T. White matter abnormalities in Leber's hereditary optic neuropathy due to the 3460 mitochondrial DNA mutation. Eur J Paediatr Neurol 2002;6:121-3.
-
(2002)
Eur J Paediatr Neurol
, vol.6
, pp. 121-123
-
-
Lev, D.1
Yanoov-Sharav, M.2
Watemberg, N.3
Leshinsky-Silver, E.4
Lerman-Sagie, T.5
-
64
-
-
11144275225
-
Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease
-
Morimoto N, Nagano I, Deguchi K, et al. Leber hereditary optic neuropathy with chorea and dementia resembling Huntington disease. Neurology 2004;63:2451-2.
-
(2004)
Neurology
, vol.63
, pp. 2451-2452
-
-
Morimoto, N.1
Nagano, I.2
Deguchi, K.3
-
65
-
-
0034700807
-
Mitochondrial respiratory chain disorders I: Mitochondrial DNA defects
-
Leonard JV, Schapira AHV. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000;355:299-304.
-
(2000)
Lancet
, vol.355
, pp. 299-304
-
-
Leonard, J.V.1
Schapira, A.H.V.2
-
66
-
-
0035154001
-
Phenotype variability in 130 adult patients with respiratory chain disorder
-
Finsterer J, Jarius C, Eichberger, Jaksch M. Phenotype variability in 130 adult patients with respiratory chain disorder. J Inher Metab Dis 2001;24:560-76.
-
(2001)
J Inher Metab Dis
, vol.24
, pp. 560-576
-
-
Finsterer, J.1
Jarius, C.2
Eichberger3
Jaksch, M.4
-
68
-
-
0036897159
-
Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations
-
Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. J Neuroophthalmol 2002;22:262-9.
-
(2002)
J Neuroophthalmol
, vol.22
, pp. 262-269
-
-
Howell, N.1
Miller, N.R.2
Mackey, D.A.3
Arnold, A.4
Herrnstadt, C.5
Williams, I.M.6
Kubacka, I.7
-
69
-
-
9144233107
-
The ND1 gene of complex 1 is a mutational hotspot for Leber's hereditary optic neuropathy
-
Valentino ML, Barboni P, Ghelli A, et al. The ND1 gene of complex 1 is a mutational hotspot for Leber's hereditary optic neuropathy. Ann Neurol 2004;56:631-41.
-
(2004)
Ann Neurol
, vol.56
, pp. 631-641
-
-
Valentino, M.L.1
Barboni, P.2
Ghelli, A.3
-
70
-
-
0036259160
-
Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
-
Lodi R, Carelli V, Cortelli P, et al. Phosphorous MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2002;72:805-7.
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.72
, pp. 805-807
-
-
Lodi, R.1
Carelli, V.2
Cortelli, P.3
-
71
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721-7.
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
-
72
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
73
-
-
20844450579
-
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation
-
Said G, Lacroix C, Plante-Bordeneuve V, et al. Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. J Neurol 2005;252:655-62.
-
(2005)
J Neurol
, vol.252
, pp. 655-662
-
-
Said, G.1
Lacroix, C.2
Plante-Bordeneuve, V.3
-
74
-
-
0346025687
-
ND5 is a hotspot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy
-
Nishigaki Y, Marti R, Hirano M. ND5 is a hotspot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet 2004;13:91-101.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 91-101
-
-
Nishigaki, Y.1
Marti, R.2
Hirano, M.3
-
75
-
-
0037167531
-
Multiple mtDNA deletions with features of MNGIE
-
Vissing J, Ravn K, Danielsen ER, et al. Multiple mtDNA deletions with features of MNGIE. Neurology 2002;59:926-9.
-
(2002)
Neurology
, vol.59
, pp. 926-929
-
-
Vissing, J.1
Ravn, K.2
Danielsen, E.R.3
-
77
-
-
0025807222
-
Maternally inherited myopathy and cardiomyopathy: Association with mutation in mitochondrial DNA tRNA (Leu) (UUR)
-
Zeviani M, Gellera C, Antozzi C, et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA (Leu) (UUR). Lancet 1991;338:143-7.
-
(1991)
Lancet
, vol.338
, pp. 143-147
-
-
Zeviani, M.1
Gellera, C.2
Antozzi, C.3
-
78
-
-
0025274663
-
Mitochondrial myopathy caused by long-term zidovudine therapy
-
Dalakas MC, Illa I, Pezeshkpour GH, et al. Mitochondrial myopathy caused by long-term zidovudine therapy. N Engl J Med 1990;322:1098.
-
(1990)
N Engl J Med
, vol.322
, pp. 1098
-
-
Dalakas, M.C.1
Illa, I.2
Pezeshkpour, G.H.3
-
79
-
-
0030031395
-
Sporadic ME/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA
-
Campos Y, Martin MA, Lorenzo G, Aparicio M, Cabello A, Arenas J. Sporadic ME/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. Muscle Nerve 1996;19:187-90.
-
(1996)
Muscle Nerve
, vol.19
, pp. 187-190
-
-
Campos, Y.1
Martin, M.A.2
Lorenzo, G.3
Aparicio, M.4
Cabello, A.5
Arenas, J.6
-
80
-
-
0032707838
-
The mitochondrial DNA G13513A transition in ND5 is associated with LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
-
Pulkes T, Eunson L, Patterson V, et al. The mitochondrial DNA G13513A transition in ND5 is associated with LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 1999;46:916-9.
-
(1999)
Ann Neurol
, vol.46
, pp. 916-919
-
-
Pulkes, T.1
Eunson, L.2
Patterson, V.3
-
81
-
-
10744223599
-
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome
-
Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 2003;60:1857-61.
-
(2003)
Neurology
, vol.60
, pp. 1857-1861
-
-
Crimi, M.1
Galbiati, S.2
Moroni, I.3
-
82
-
-
18544364815
-
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome
-
Mancuso M, Ferraris S, Pancrudo J, et al. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Arch Neurol 2005;62:745-7.
-
(2005)
Arch Neurol
, vol.62
, pp. 745-747
-
-
Mancuso, M.1
Ferraris, S.2
Pancrudo, J.3
-
83
-
-
0025953999
-
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
-
Ciafaloni E, Ricci E, Servidei S, et al. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991;41:1663-4.
-
(1991)
Neurology
, vol.41
, pp. 1663-1664
-
-
Ciafaloni, E.1
Ricci, E.2
Servidei, S.3
-
84
-
-
0027751319
-
Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies
-
Shiraiwa N, Ishii A, Iwamoto H, Mizusawa H, Kagawa Y, Ohta S. Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies. J Neurol Sci 1993;120:174-9.
-
(1993)
J Neurol Sci
, vol.120
, pp. 174-179
-
-
Shiraiwa, N.1
Ishii, A.2
Iwamoto, H.3
Mizusawa, H.4
Kagawa, Y.5
Ohta, S.6
-
85
-
-
0028834240
-
Quantitation of heteroplasmy of mitochondrial tRNA(Leu(UUR)) gene using PCR-SSCP
-
Tanno Y, Yoneda M, Tanaka K, et al. Quantitation of heteroplasmy of mitochondrial tRNA(Leu(UUR)) gene using PCR-SSCP. Muscle Nerve 1995;18:1390-7.
-
(1995)
Muscle Nerve
, vol.18
, pp. 1390-1397
-
-
Tanno, Y.1
Yoneda, M.2
Tanaka, K.3
|