-
1
-
-
0029054614
-
28th ENMC international workshop: mitochondrial diseases
-
Poulton J. 28th ENMC international workshop: mitochondrial diseases. Neuromuscul Disord 1995; 5: 345-346.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 345-346
-
-
Poulton, J.1
-
2
-
-
0030008371
-
Third International Congress on Human Mitochondrial Pathology (Euromit III): towards a better understanding of energy metabolism disorders
-
Possekel S, Boitier E, Marsac C, Degoul F. Third International Congress on Human Mitochondrial Pathology (Euromit III): towards a better understanding of energy metabolism disorders. Neuromuscul Disord 1996; 6: 215-218.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 215-218
-
-
Possekel, S.1
Boitier, E.2
Marsac, C.3
Degoul, F.4
-
3
-
-
0028936222
-
Ragged red fibers in normal aging and inflammatory myopathy
-
Rifai Z, Welle S, Kamp C, Thornton CA. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol 1995; 37: 24-29.
-
(1995)
Ann Neurol
, vol.37
, pp. 24-29
-
-
Rifai, Z.1
Welle, S.2
Kamp, C.3
Thornton, C.A.4
-
4
-
-
0027494110
-
Cytochrome c oxidase reaction improves histopathological assessment of zidovudine myopathy
-
Chariot P, Monnet I, Gherardi R. Cytochrome c oxidase reaction improves histopathological assessment of zidovudine myopathy. Ann Neurol 1993; 34: 561-565.
-
(1993)
Ann Neurol
, vol.34
, pp. 561-565
-
-
Chariot, P.1
Monnet, I.2
Gherardi, R.3
-
5
-
-
33749001168
-
Mitochondrial DNA polymerase-gamma and human disease
-
Hudson G, Chinnery PF. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet 2006; 15: R244-R252.
-
(2006)
Hum Mol Genet
, vol.15
, pp. R244-R252
-
-
Hudson, G.1
Chinnery, P.F.2
-
6
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V etal. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-785.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
-
7
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V etal. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28: 223-231.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
-
8
-
-
0025630063
-
Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies
-
Goto Y, Koga Y, Horai S, Nonaka I. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci 1990; 100: 63-69.
-
(1990)
J Neurol Sci
, vol.100
, pp. 63-69
-
-
Goto, Y.1
Koga, Y.2
Horai, S.3
Nonaka, I.4
-
9
-
-
77954742818
-
Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases
-
Choi BO, Hwang JH, Cho EM etal. Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases. Exp Mol Med 2010; 42: 446-455.
-
(2010)
Exp Mol Med
, vol.42
, pp. 446-455
-
-
Choi, B.O.1
Hwang, J.H.2
Cho, E.M.3
-
10
-
-
0027311861
-
The expanding clinical spectrum of mitochondrial diseases
-
De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev 1993; 15: 1-22.
-
(1993)
Brain Dev
, vol.15
, pp. 1-22
-
-
De Vivo, D.C.1
-
11
-
-
0942290696
-
Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation
-
Tarnopolsky MA, Baker SK, Myint T etal. Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation. Am J Med Genet 2004; 124A: 372-376.
-
(2004)
Am J Med Genet
, vol.124 A
, pp. 372-376
-
-
Tarnopolsky, M.A.1
Baker, S.K.2
Myint, T.3
-
12
-
-
0347600946
-
Mitochondrial DNA mutations in human colonic crypt stem cells
-
Taylor RW, Barron MJ, Borthwick GM etal. Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest 2003; 112: 1351-1360.
-
(2003)
J Clin Invest
, vol.112
, pp. 1351-1360
-
-
Taylor, R.W.1
Barron, M.J.2
Borthwick, G.M.3
-
14
-
-
0024395481
-
Focal cytochrome c oxidase deficiency in various neuromuscular diseases
-
Yamamoto M, Koga Y, Ohtaki E, Nonaka I. Focal cytochrome c oxidase deficiency in various neuromuscular diseases. J Neurol Sci 1989; 91: 207-213.
-
(1989)
J Neurol Sci
, vol.91
, pp. 207-213
-
-
Yamamoto, M.1
Koga, Y.2
Ohtaki, E.3
Nonaka, I.4
-
15
-
-
0025986459
-
Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients
-
Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 1991; 41: 1822-1828.
-
(1991)
Neurology
, vol.41
, pp. 1822-1828
-
-
Yamamoto, M.1
Clemens, P.R.2
Engel, A.G.3
-
16
-
-
0029068494
-
Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients
-
Laforet P, Lombès A, Eymard B etal. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. Neuromuscul Disord 1995; 5: 399-413.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 399-413
-
-
Laforet, P.1
Lombès, A.2
Eymard, B.3
-
17
-
-
0028952971
-
Contrasting histochemical features of various mitochondrial syndromes
-
Collins S, Byrne E, Dennett X. Contrasting histochemical features of various mitochondrial syndromes. Acta Neurol Scand 1995; 91: 287-293.
-
(1995)
Acta Neurol Scand
, vol.91
, pp. 287-293
-
-
Collins, S.1
Byrne, E.2
Dennett, X.3
-
18
-
-
0029010022
-
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases
-
Kawai H, Akaike M, Yokoi K etal. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve 1995; 18: 753-760.
-
(1995)
Muscle Nerve
, vol.18
, pp. 753-760
-
-
Kawai, H.1
Akaike, M.2
Yokoi, K.3
-
19
-
-
48549101970
-
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
-
Milone M, Brunetti-Pierri N, Tang LY etal. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 2008; 18: 626-632.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 626-632
-
-
Milone, M.1
Brunetti-Pierri, N.2
Tang, L.Y.3
-
20
-
-
0026708671
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation
-
Goto Y, Horai S, Matsuoka T etal. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. Neurology 1992; 42: 545-550.
-
(1992)
Neurology
, vol.42
, pp. 545-550
-
-
Goto, Y.1
Horai, S.2
Matsuoka, T.3
-
21
-
-
0033976350
-
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes
-
Koga Y, Koga A, Iwanaga R etal. Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes. Acta Neuropathol 2000; 99: 186-190.
-
(2000)
Acta Neuropathol
, vol.99
, pp. 186-190
-
-
Koga, Y.1
Koga, A.2
Iwanaga, R.3
-
22
-
-
0023690286
-
Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers
-
Yamamoto M, Nonaka I. Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. Acta Neuropathol 1988; 76: 558-563.
-
(1988)
Acta Neuropathol
, vol.76
, pp. 558-563
-
-
Yamamoto, M.1
Nonaka, I.2
-
23
-
-
10644225224
-
Pathology of skeletal muscle in mitochondrial disorders
-
Bourgeois JM, Tarnopolsky MA. Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion 2004; 4: 441-452.
-
(2004)
Mitochondrion
, vol.4
, pp. 441-452
-
-
Bourgeois, J.M.1
Tarnopolsky, M.A.2
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