-
1
-
-
1442269709
-
Eucaryotic chromosomes and gene expression
-
Stryer L, ed. New York: W H Freeman and Company
-
Stryer L. Eucaryotic chromosomes and gene expression. In: Stryer L, ed. Biochemistry, 3rd edn. New York: W H Freeman and Company; 1988; 823-50.
-
(1988)
Biochemistry, 3rd Edn.
, pp. 823-850
-
-
Stryer, L.1
-
2
-
-
78651128209
-
Intramitochondrial fibres with DNA characteristics. I. Fixation and electron staining reactions
-
Nass S, Nass MMK. Intramitochondrial fibres with DNA characteristics. I. Fixation and electron staining reactions. J Cell Biol 1963; 19: 593-612.
-
(1963)
J Cell Biol
, vol.19
, pp. 593-612
-
-
Nass, S.1
Nass, M.M.K.2
-
3
-
-
78651121728
-
Intramitochondrial fibres with DNA characteristics. II. Enzymatic and other hydrolytic treatments
-
Nass S, Nass MMK. Intramitochondrial fibres with DNA characteristics. II. Enzymatic and other hydrolytic treatments. J Cell Biol 1963; 19: 613-29.
-
(1963)
J Cell Biol
, vol.19
, pp. 613-629
-
-
Nass, S.1
Nass, M.M.K.2
-
4
-
-
0013957553
-
The circularity of mitochondrial DNA
-
Nass MMK. The circularity of mitochondrial DNA. Proc Natl Acad Sci USA 1966; 56: 1215-22.
-
(1966)
Proc Natl Acad Sci USA
, vol.56
, pp. 1215-1222
-
-
Nass, M.M.K.1
-
5
-
-
0014021945
-
Circular mitochondrial DNA
-
Van Bruggen EFJ, Borst P, Ruttenburg GJCM, Gruber M, Kroon AM. Circular mitochondrial DNA. Biochem Biophys Acta 1963; 119: 437-9.
-
(1963)
Biochem Biophys Acta
, vol.119
, pp. 437-439
-
-
Van Bruggen, E.F.J.1
Borst, P.2
Ruttenburg, G.J.C.M.3
Gruber, M.4
Kroon, A.M.5
-
6
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J et al. Sequence and organization of the 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
De Bruijn, M.H.L.4
Coulson, A.R.5
Drouin, J.6
-
8
-
-
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: 717-19.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
9
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott M, Hodge JA, Schurr TG, Lezza AM et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988; 242: 1427-30.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
-
10
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease or a syndrome? Light and electron-microscopic studies of two cases and a review of the literature
-
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease or a syndrome? Light and electron-microscopic studies of two cases and a review of the literature. J Neurol Sci 1980; 47: 117-33.
-
(1980)
J Neurol Sci
, vol.47
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, K.3
Tsubaki, T.4
-
11
-
-
0021929746
-
Maternally inherited mitochondrial myopathy and myoclonic epilepsy
-
Rosing HS, Hopkins LC, Wallace DC, Epstein CM, Weidenheim K. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol 1985; 17: 228-37.
-
(1985)
Ann Neurol
, vol.17
, pp. 228-237
-
-
Rosing, H.S.1
Hopkins, L.C.2
Wallace, D.C.3
Epstein, C.M.4
Weidenheim, K.5
-
12
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP. Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike 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
De Vivo, D.C.4
Rowland, L.P.5
-
13
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
-
Shoffner JM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell 1990; 61: 931-7.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Ams, L.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
14
-
-
0025666322
-
(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
(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
-
15
-
-
0031840929
-
MITOMAP: Human mitochondrial genome database - 1998 Update
-
Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC. MITOMAP: human mitochondrial genome database - 1998 update. Nucleic Acids Res 1998; 26: 112-15.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 112-115
-
-
Kogelnik, A.M.1
Lott, M.T.2
Brown, M.D.3
Navathe, S.B.4
Wallace, D.C.5
-
16
-
-
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: 717-19.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
17
-
-
0025869411
-
Mitochondrial DNA abnormalities in human disease
-
Byrne E. Mitochondrial DNA abnormalities in human disease. Med J Aust 1991; 154: 646-7.
-
(1991)
Med J Aust
, vol.154
, pp. 646-647
-
-
Byrne, E.1
-
18
-
-
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 Bases of Inherited Disease, Vol. 1, 7th edn. New York: McGraw-Hill; 1995; 1535-1609.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, Vol. 1, 7th Edn.
, vol.1
, pp. 1535-1609
-
-
Shoffner, J.M.1
Wallace, D.C.2
-
19
-
-
0028068126
-
Rapid and non-invasive screening of patients with mitochondrial myopathy
-
Kotsimbos N, Jean-Francois MJB, Huizing M, Kapsa RMI, Lertrit P, Siregar NC et al. Rapid and non-invasive screening of patients with mitochondrial myopathy. Hum Mutat 1994; 4: 132-5.
-
(1994)
Hum Mutat
, vol.4
, pp. 132-135
-
-
Kotsimbos, N.1
Jean-Francois, M.J.B.2
Huizing, M.3
Kapsa, R.M.I.4
Lertrit, P.5
Siregar, N.C.6
-
21
-
-
0036897159
-
Lighting strikes twice: Leber's hereditary optic neuropathy families with two pathogenic mtDNA mutations
-
Howell N, Miller NR, Mackey DA, Arnold A, Hernstadt C, Williams IM et al. Lighting strikes twice: Leber's 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
Hernstadt, C.5
Williams, I.M.6
-
22
-
-
0031824802
-
Clinical and laboratory findings in referrals for mitochondrial DNA analysis
-
Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child 1998; 79: 22-7.
-
(1998)
Arch Dis Child
, vol.79
, pp. 22-27
-
-
Lamont, P.J.1
Surtees, R.2
Woodward, C.E.3
Leonard, J.V.4
Wood, N.W.5
Harding, A.E.6
-
23
-
-
0031935230
-
Myoclonus epilepsy with ragged red fibres and multiple mtDNA deletions
-
Blumethal DT, Shanske S, Schochet SS, Santorelli FM, Di Mauro S, Jaynesm M et al. Myoclonus epilepsy with ragged red fibres and multiple mtDNA deletions. Neurology 1998; 50: 524-5.
-
(1998)
Neurology
, vol.50
, pp. 524-525
-
-
Blumethal, D.T.1
Shanske, S.2
Schochet, S.S.3
Santorelli, F.M.4
Di Mauro, S.5
Jaynesm, M.6
-
24
-
-
0035019225
-
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders
-
Sternberg D, Chatzoglou E, Laforet P, Fayet G, Jardel C, Blondy P et al. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 2001; 124: 984-94.
-
(2001)
Brain
, vol.124
, pp. 984-994
-
-
Sternberg, D.1
Chatzoglou, E.2
Laforet, P.3
Fayet, G.4
Jardel, C.5
Blondy, P.6
-
25
-
-
0035182136
-
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
-
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J et al. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain 2001; 124: 209-13.
-
(2001)
Brain
, vol.124
, pp. 209-213
-
-
Chinnery, P.F.1
Brown, D.T.2
Andrews, R.M.3
Singh-Kler, R.4
Riordan-Eva, P.5
Lindley, J.6
-
26
-
-
0032569876
-
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
-
Sue CM, Quigley A, Katsabanis S, Kapsa R, Crimmins DS, Byrne E et al. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. J Neurol Sci 1998; 161: 36-9.
-
(1998)
J Neurol Sci
, vol.161
, pp. 36-39
-
-
Sue, C.M.1
Quigley, A.2
Katsabanis, S.3
Kapsa, R.4
Crimmins, D.S.5
Byrne, E.6
-
27
-
-
0026016757
-
Mitochondrial encephlomyopathies: Correlation between neuropathological findings and defects in mitochondrial DNA
-
McKelvie PA, Morely JB, Byrne E, Marzuki S. Mitochondrial encephlomyopathies: correlation between neuropathological findings and defects in mitochondrial DNA. J Neurol Sci 1991; 102: 51-60.
-
(1991)
J Neurol Sci
, vol.102
, pp. 51-60
-
-
McKelvie, P.A.1
Morely, J.B.2
Byrne, E.3
Marzuki, S.4
-
28
-
-
0026526358
-
Tissue segregation of a heteroplasmic mtDNa in MERRF (myoclonic epilepsy with ragged red fibres) encephalomyopathy
-
Lertrit P, Noer AS, Byrne E, Marzuki S. Tissue segregation of a heteroplasmic mtDNA in MERRF (myoclonic epilepsy with ragged red fibres) encephalomyopathy. Hum Genet 1992; 90: 251-4.
-
(1992)
Hum Genet
, vol.90
, pp. 251-254
-
-
Lertrit, P.1
Noer, A.S.2
Byrne, E.3
Marzuki, S.4
-
29
-
-
0035199683
-
A novel clinical phenotype of myopathy, sensorimotor neuropathy, infertility, and hypogonadism with multiple mitochondrial DNA deletions
-
Quigley A, Reardon K, Kapsa R, Dennett X, Byrne E, Thyagarajan D. A novel clinical phenotype of myopathy, sensorimotor neuropathy, infertility, and hypogonadism with multiple mitochondrial DNA deletions. J Clin Neuromus Dis 2001; 3: 77-82.
-
(2001)
J Clin Neuromus Dis
, vol.3
, pp. 77-82
-
-
Quigley, A.1
Reardon, K.2
Kapsa, R.3
Dennett, X.4
Byrne, E.5
Thyagarajan, D.6
-
31
-
-
1442294301
-
The spectrum of mitochondrial disease. A primary care physician's guide
-
online publication, cited April 1999
-
Naviaux RK. The spectrum of mitochondrial disease. A primary care physician's guide. Exceptional parents magazines [online publication, cited April 1999] Available from: URL: http://biochemgen.ucsd.edu/mmdc/ep-3-10.pdf
-
Exceptional Parents Magazines
-
-
Naviaux, R.K.1
-
32
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial mutations
-
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT et al. The epidemiology of pathogenic mitochondrial mutations. Ann Neurol 2000; 48: 188-93.
-
(2000)
Ann Neurol
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
-
33
-
-
0035892808
-
Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
-
Brown MD, Allen JC, Van Stavern GP, Newman NJ, Wallace D. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Hum Genet 2001; 104: 331-8.
-
(2001)
Am J Hum Genet
, vol.104
, pp. 331-338
-
-
Brown, M.D.1
Allen, J.C.2
Van Stavern, G.P.3
Newman, N.J.4
Wallace, D.5
-
34
-
-
0031712755
-
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring
-
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998; 121: 1889-94.
-
(1998)
Brain
, vol.121
, pp. 1889-1894
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
Turnbull, D.M.4
-
35
-
-
0027525492
-
Mitochondrial encephalomyopathies
-
Di Mauro S, Moraes T. Mitochondrial encephalomyopathies. Arch Neurol 1993; 50: 1197-1208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
Di Mauro, S.1
Moraes, T.2
-
36
-
-
0343575524
-
Mitochondrial myopathy
-
Feldmann E, ed. St Louis: Mosby-Year Book
-
Di Mauro S. Mitochondrial myopathy. In: Feldmann E, ed. Current Diagnosis in Neurology. St Louis: Mosby-Year Book; 1994; 340-45.
-
(1994)
Current Diagnosis in Neurology
, pp. 340-345
-
-
Di Mauro, S.1
|