-
1
-
-
16844363195
-
Ocular motility findings in chronic progressive external ophthalmoplegia
-
Richardson C, Smith T, Schaefer A, Turnbull D, Griffiths P. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye. 2005;19:258-263.
-
(2005)
Eye
, vol.19
, pp. 258-263
-
-
Richardson, C.1
Smith, T.2
Schaefer, A.3
Turnbull, D.4
Griffiths, P.5
-
3
-
-
31544479265
-
Update on chronic progressive external ophthal-moplegia
-
Bau V, Zierz S. Update on chronic progressive external ophthal-moplegia. Strabismus. 2005;13:133-142.
-
(2005)
Strabismus
, vol.13
, pp. 133-142
-
-
Bau, V.1
Zierz, S.2
-
4
-
-
33745410626
-
Mitochondrial disease
-
Schapira AH. Mitochondrial disease. Lancet. 2006;368:70-82.
-
(2006)
Lancet
, vol.368
, pp. 70-82
-
-
Schapira, A.H.1
-
5
-
-
0023883150
-
Deletions of muscle mito-chondrial DNA in patients with mitochondrial myopathies
-
Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mito-chondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331:717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
6
-
-
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. 1993;3:43-50.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
-
7
-
-
0032481279
-
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
-
Taylor RW, Chinnery PF, Bates MJ, et al. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem Biophys Res Commun. 1998;243: 47-51.
-
(1998)
Biochem Biophys Res Commun
, vol.243
, pp. 47-51
-
-
Taylor, R.W.1
Chinnery, P.F.2
Bates, M.J.3
-
8
-
-
0036787013
-
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
-
Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Dis-ord. 2002;12:659-664.
-
(2002)
Neuromuscul Dis-ord
, vol.12
, pp. 659-664
-
-
Taylor, R.W.1
Schaefer, A.M.2
McFarland, R.3
Maddison, P.4
Turnbull, D.M.5
-
9
-
-
0035956482
-
ANT1, twinkle, POLG, and TP: New genes open our eyes to ophthalmoplegia
-
Hirano M, DiMauro S. ANT1, twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology. 2001;57:2163-2165.
-
(2001)
Neurology
, vol.57
, pp. 2163-2165
-
-
Hirano, M.1
Dimauro, S.2
-
10
-
-
1542328875
-
The diagnosis of mitochondrial muscle disease
-
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscul Dis-ord. 2004;14:237-245.
-
(2004)
Neuromuscul Dis-ord
, vol.14
, pp. 237-245
-
-
Taylor, R.W.1
Schaefer, A.M.2
Barron, M.J.3
McFarland, R.4
Turnbull, D.M.5
-
11
-
-
34347256160
-
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not form. 3243A3G
-
Durham SE, Samuels DC, Cree LM, Chinnery PF. Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m. 3243A3G. Am J Hum Genet. 2007;81:189-195.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 189-195
-
-
Durham, S.E.1
Samuels, D.C.2
Cree, L.M.3
Chinnery, P.F.4
-
12
-
-
0025276996
-
Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease
-
Shoubridge EA, Karpati G, Hastings KE. Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease. Cell. 1990;62:43-49.
-
(1990)
Cell
, vol.62
, pp. 43-49
-
-
Shoubridge, E.A.1
Karpati, G.2
Hastings, K.E.3
-
13
-
-
17044456392
-
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
-
He L, Chinnery PF, Durham SE, et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res. 2002;30:e68.
-
(2002)
Nucleic Acids Res
, vol.e68
, pp. 30
-
-
He, L.1
Chinnery, P.F.2
Durham, S.E.3
-
14
-
-
0027249847
-
Diagrammatic representation of strabismus
-
Vivian AJ, Morris RJ. Diagrammatic representation of strabismus. Eye. 1993;7:565-571.
-
(1993)
Eye
, vol.7
, pp. 565-571
-
-
Vivian, A.J.1
Morris, R.J.2
-
15
-
-
34248391402
-
Comparative study of the subjective and objective grading of ptosis surgery outcomes
-
Taherian K, Atkinson PL, Shekarchian M, Scally AJ. Comparative study of the subjective and objective grading of ptosis surgery outcomes. Eye. 2007;21:639-642.
-
(2007)
Eye
, vol.21
, pp. 639-642
-
-
Taherian, K.1
Atkinson, P.L.2
Shekarchian, M.3
Scally, A.J.4
-
16
-
-
0024459635
-
Methods of microphotometric assay of suc-cinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle
-
Old SL, Johnson MA. Methods of microphotometric assay of suc-cinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J. 1989;21:545-555.
-
(1989)
Histochem J
, vol.21
, pp. 545-555
-
-
Old, S.L.1
Johnson, M.A.2
-
17
-
-
0347600946
-
Mitochondrial DNA mutations in human colonic crypt stem cells
-
Taylor RW, Barron MJ, Borthwick GM, et al. 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
-
18
-
-
34548656405
-
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells
-
Krishnan KJ, Bender A, Taylor RW, Turnbull DM. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem. 2007;370:127-129.
-
(2007)
Anal Biochem
, vol.370
, pp. 127-129
-
-
Krishnan, K.J.1
Bender, A.2
Taylor, R.W.3
Turnbull, D.M.4
-
19
-
-
13444256467
-
MITOMAP: A human mitochondrial genome database: 2004 update
-
Brandon MC, Lott MT, Nguyen KC, et al. MITOMAP: a human mitochondrial genome database: 2004 update. Nucleic Acids Res. 2005;33:D611-D613.
-
(2005)
Nucleic Acids Res
, vol.33
-
-
Brandon, M.C.1
Lott, M.T.2
Nguyen, K.C.3
-
20
-
-
33846428420
-
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A3G mtDNA mutation
-
Pyle A, Taylor RW, Durham SE, et al. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A3G mtDNA mutation. J Med Genet. 2007;44:69-74.
-
(2007)
J Med Genet
, vol.44
, pp. 69-74
-
-
Pyle, A.1
Taylor, R.W.2
Durham, S.E.3
-
21
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290:457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
22
-
-
0028140454
-
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mito-chondrial myopathy
-
Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mito-chondrial myopathy. Hum Mol Genet. 1994;3:13-19.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 13-19
-
-
Sciacco, M.1
Bonilla, E.2
Schon, E.A.3
Dimauro, S.4
Moraes, C.T.5
-
23
-
-
33646413955
-
Assessment of visual function in chronic progressive external oph-thalmoplegia
-
Yu Wai Man CY, Smith T, Chinnery PF, Turnbull DM, Griffiths PG. Assessment of visual function in chronic progressive external oph-thalmoplegia. Eye. 2006;20:564-568.
-
(2006)
Eye
, vol.20
, pp. 564-568
-
-
Yu Wai Man, C.Y.1
Smith, T.2
Chinnery, P.F.3
Turnbull, D.M.4
Griffiths, P.G.5
-
24
-
-
0022574885
-
Mitochondrial morphometrics of histochemically identified human extraocular muscle fibers
-
Carry MR, Ringel SP, Starcevich JM. Mitochondrial morphometrics of histochemically identified human extraocular muscle fibers. Anat Rec. 1986;214:8-16.
-
(1986)
Anat Rec
, vol.214
, pp. 8-16
-
-
Carry, M.R.1
Ringel, S.P.2
Starcevich, J.M.3
-
25
-
-
0020582455
-
Fatigue resistance of human extraocular muscles
-
Fuchs AF, Binder MD. Fatigue resistance of human extraocular muscles. J Neurophysiol. 1983;49:28-34.
-
(1983)
J Neurophysiol
, vol.49
, pp. 28-34
-
-
Fuchs, A.F.1
Binder, M.D.2
-
26
-
-
0024182263
-
Structural organization of the extraocular muscles
-
Spencer RF, Porter JD. Structural organization of the extraocular muscles. Rev Oculomotor Res. 1988;2:33-79.
-
(1988)
Rev Oculomotor Res
, vol.2
, pp. 33-79
-
-
Spencer, R.F.1
Porter, J.D.2
-
27
-
-
0015324888
-
Blood flow in extraocular muscle of cat
-
Wooten GF, Reis DJ. Blood flow in extraocular muscle of cat. Arch Neurol. 1972;26:350-352.
-
(1972)
Arch Neurol
, vol.26
, pp. 350-352
-
-
Wooten, G.F.1
Reis, D.J.2
-
28
-
-
0014780151
-
Oculomotor unit behavior in the monkey
-
Robinson DA. Oculomotor unit behavior in the monkey. J Neuro-physiol. 1970;33:393-403.
-
(1970)
J Neuro-physiol
, vol.33
, pp. 393-403
-
-
Robinson, D.A.1
-
29
-
-
0025673968
-
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: An age-related alteration
-
Muller-Hocker J. Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. J Neurol Sci. 1990;100:14-21.
-
(1990)
J Neurol Sci
, vol.100
, pp. 14-21
-
-
Muller-Hocker, J.1
-
30
-
-
0026728212
-
Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing: A cytochemical-immunohistochemical study
-
Muller-Hocker J, Schneiderbanger K, Stefani FH, Kadenbach B. Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing: a cytochemical-immunohistochemical study. Mutat Res. 1992;275:115-124.
-
(1992)
Mutat Res
, vol.275
, pp. 115-124
-
-
Muller-Hocker, J.1
Schneiderbanger, K.2
Stefani, F.H.3
Kadenbach, B.4
-
31
-
-
77955863883
-
Somatic mito-chondrial DNA deletions accumulate to high levels in aging human extraocular muscles
-
Yu-Wai-Man P, Lai-Cheong J, Borthwick GM, et al. Somatic mito-chondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Invest Ophthalmol Vis Sci. 2010;51:3347-3353.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 3347-3353
-
-
Yu-Wai-Man, P.1
Lai-Cheong, J.2
Borthwick, G.M.3
-
32
-
-
0029834809
-
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
-
Moslemi AR, Melberg A, Holme E, Oldfors A. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann Neurol. 1996;40: 707-713.
-
(1996)
Ann Neurol
, vol.40
, pp. 707-713
-
-
Moslemi, A.R.1
Melberg, A.2
Holme, E.3
Oldfors, A.4
-
33
-
-
33646375711
-
High levels of mitochon-drial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender A, Krishnan KJ, Morris CM, et al. High levels of mitochon-drial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet. 2006;38:515-517.
-
(2006)
Nat Genet
, vol.38
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
-
34
-
-
38749102795
-
Nature of mitochondrial DNA deletions in substantia nigra neurons
-
Reeve AK, Krishnan KJ, Elson JL, et al. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am J Hum Genet. 2008;82:228-235.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 228-235
-
-
Reeve, A.K.1
Krishnan, K.J.2
Elson, J.L.3
-
35
-
-
0022924341
-
The origins and insertions of the extraocular muscles: Development, histologic features, and clinical significance
-
Sevel D. The origins and insertions of the extraocular muscles: development, histologic features, and clinical significance. Trans Am Ophthalmol Soc. 1986;84:488-526.
-
(1986)
Trans Am Ophthalmol Soc
, vol.84
, pp. 488-526
-
-
Sevel, D.1
-
36
-
-
0029997931
-
Muscles of a different 'color': The unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease
-
Porter JD, Baker RS. Muscles of a different 'color': the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease. Neurology. 1996;46:30-37.
-
(1996)
Neurology
, vol.46
, pp. 30-37
-
-
Porter, J.D.1
Baker, R.S.2
-
37
-
-
0030926104
-
Reversal of a mito-chondrial DNA defect in human skeletal muscle
-
Clark KM, Bindoff LA, Lightowlers RN, et al. Reversal of a mito-chondrial DNA defect in human skeletal muscle. Nat Genet. 1997; 16:222-224.
-
(1997)
Nat Genet
, vol.16
, pp. 222-224
-
-
Clark, K.M.1
Bindoff, L.A.2
Lightowlers, R.N.3
-
38
-
-
0029658242
-
A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy
-
Fu K, Hartlen R, Johns T, Genge A, Karpati G, Shoubridge EA. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet. 1996;5:1835-1840.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1835-1840
-
-
Fu, K.1
Hartlen, R.2
Johns, T.3
Genge, A.4
Karpati, G.5
Shoubridge, E.A.6
-
39
-
-
0033401240
-
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmo-plegia and Kearns-Sayre syndrome
-
Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmo-plegia and Kearns-Sayre syndrome. Eye. 1999;13:769-772.
-
(1999)
Eye
, vol.13
, pp. 769-772
-
-
Andrews, R.M.1
Griffiths, P.G.2
Chinnery, P.F.3
Turnbull, D.M.4
-
40
-
-
33846839516
-
Bupivacaine injection of eye muscles to treat strabismus
-
Scott AB, Alexander DE, Miller JM. Bupivacaine injection of eye muscles to treat strabismus. Br J Ophthalmol. 2007;91:146-148.
-
(2007)
Br J Ophthalmol
, vol.91
, pp. 146-148
-
-
Scott, A.B.1
Alexander, D.E.2
Miller, J.M.3
|