-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
DOI 10.1038/290457a0
-
Anderson S, Bankier A T., Barrell B G. et al. Sequence and organization of the human mitochondrial genome. Nature 1981 290 5806 457-465 (Pubitemid 11159074)
-
(1981)
Nature
, vol.290
, Issue.5806
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
77956627297
-
Mitochondrial disease: Recognising more than just the tip of the iceberg
-
Sue C M. Mitochondrial disease: recognising more than just the tip of the iceberg. Med J Aust 2010 193 4 195-196
-
(2010)
Med J Aust
, vol.193
, Issue.4
, pp. 195-196
-
-
Sue, C.M.1
-
3
-
-
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, Ernster 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 9 1776-1804
-
(1962)
J Clin Invest
, vol.41
, Issue.9
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
4
-
-
0016921885
-
Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case
-
DiMauro S, Bonilla E, Lee C P. et al. Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci 1976 27 2 217-232
-
(1976)
J Neurol Sci
, vol.27
, Issue.2
, pp. 217-232
-
-
Dimauro, S.1
Bonilla, E.2
Lee, C.P.3
-
5
-
-
0001698695
-
Rapid examination of muscle tissue. An improved trichrome method for fresh-frozen biopsy sections
-
Engel W K., Cunningham G G. Rapid examination of muscle tissue. An improved trichrome method for fresh-frozen biopsy sections. Neurology 1963 13 919-923
-
(1963)
Neurology
, vol.13
, pp. 919-923
-
-
Engel, W.K.1
Cunningham, G.G.2
-
6
-
-
0000027470
-
Human myopathy with giant abnormal mitochondria
-
Shy G M., Gonatas N K. Human myopathy with giant abnormal mitochondria. Science 1964 145 3631 493-496
-
(1964)
Science
, vol.145
, Issue.3631
, pp. 493-496
-
-
Shy, G.M.1
Gonatas, N.K.2
-
7
-
-
0013887753
-
Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy
-
Shy G M., Gonatas N K., Perez M. Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain 1966 89 1 133-158
-
(1966)
Brain
, vol.89
, Issue.1
, pp. 133-158
-
-
Shy, G.M.1
Gonatas, N.K.2
Perez, M.3
-
8
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
DOI 10.1038/331717a0
-
Holt I J., Harding A E., Morgan-Hughes J A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988 331 6158 717-719 (Pubitemid 18062238)
-
(1988)
Nature
, vol.331
, Issue.6158
, 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 D C., Singh G, Lott M T. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988 242 4884 1427-1430 (Pubitemid 19008070)
-
(1988)
Science
, vol.242
, Issue.4884
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, G.T.5
Lezza, A.M.S.6
Elsas II, L.J.7
Nikoskelainen, E.K.8
-
10
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
DOI 10.1093/nar/gkl927
-
Ruiz-Pesini E, Lott M T., Procaccio V et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007 35 Suppl 1 D823-D828 (Pubitemid 46056316)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.SUPPL. 1
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
Poole, J.C.4
Brandon, M.C.5
Mishmar, D.6
Yi, C.7
Kreuziger, J.8
Baldi, P.9
Wallace, D.C.10
-
11
-
-
0037158599
-
Paternal inheritance of mitochondrial DNA
-
Schwartz M, Vissing J. Paternal inheritance of mitochondrial DNA. N Engl J Med 2002 347 8 576-580
-
(2002)
N Engl J Med
, vol.347
, Issue.8
, pp. 576-580
-
-
Schwartz, M.1
Vissing, J.2
-
12
-
-
0025968499
-
In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria
-
Chomyn A, Meola G, Bresolin N, Lai S T., Scarlato G, Attardi G. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol 1991 11 4 2236-2244 (Pubitemid 21895596)
-
(1991)
Molecular and Cellular Biology
, vol.11
, Issue.4
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
13
-
-
0028326541
-
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
-
Petruzzella V, Moraes C T., Sano M C., Bonilla E, DiMauro S, Schon E A. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 1994 3 3 449-454 (Pubitemid 24083906)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.3
, pp. 449-454
-
-
Petruzzella, V.1
Moraes, C.T.2
Sano, M.C.3
Bonilla, E.4
DiMauro, S.5
Schon, E.A.6
-
14
-
-
0002082551
-
-
In: Rosenberg R. N. Prusiner S. B. DiMauro S. Barchi R. L. eds. The Molecular and Genetic Basis of Neurological Disease Boston, MA Butterworth-Heinemann
-
DiMauro S. Mitochondrial encephalomyopathies. In: Rosenberg R N. Prusiner S B. DiMauro S Barchi R L. eds. The Molecular and Genetic Basis of Neurological Disease. Boston, MA Butterworth-Heinemann 1993 665-694
-
(1993)
Mitochondrial Encephalomyopathies
, pp. 665-694
-
-
Dimauro, S.1
-
15
-
-
0027288377
-
8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA
-
Hammans S R., Sweeney M G., Brockington M et al. The mitochondrial DNA transfer RNA(Lys)A>G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain 1993 116 Pt 3 617-632 (Pubitemid 23203641)
-
(1993)
Brain
, vol.116
, Issue.3
, pp. 617-632
-
-
Hammans, S.R.1
Sweeney, M.G.2
Brockington, M.3
Lennox, G.G.4
Lawton, N.F.5
Kennedy, C.R.6
Morgan-Hughes, J.A.7
Harding, A.E.8
-
16
-
-
0029077496
-
The mitochondrial DNA transfer RNALeu(UUR) A>G(3243) mutation. A clinical and genetic study
-
Hammans S R., Sweeney M G., Hanna M G., Brockington M, Morgan-Hughes J A., Harding A E. The mitochondrial DNA transfer RNALeu(UUR) A>G(3243) mutation. A clinical and genetic study. Brain 1995 118 Pt 3 721-734
-
(1995)
Brain
, vol.118
, Issue.PART 3
, 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
-
17
-
-
0033498227
-
Infantile encephalopathy associated with the MELAS A3243G mutation
-
Sue C M., Bruno C, Andreu A L. et al. Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr 1999 134 6 696-700 (Pubitemid 30186811)
-
(1999)
Journal of Pediatrics
, vol.134
, Issue.6
, pp. 696-700
-
-
Sue, C.M.1
Bruno, C.2
Andreu, A.L.3
Cargan, A.4
Mendell, J.R.5
Tsao, C.-Y.6
Luquette, M.7
Paolicchi, J.8
Shanske, S.9
DiMauro, S.10
De Vivo, D.C.11
-
18
-
-
0034010157
-
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
-
DOI 10.1002/1531-8249(200003)47:3< 381::AID-ANA17>3.0.CO;2-2
-
Chinnery P F., Taylor D J., Brown D T., Manners D, Styles P, Lodi R. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann Neurol 2000 47 3 381-384 (Pubitemid 30141851)
-
(2000)
Annals of Neurology
, vol.47
, Issue.3
, pp. 381-384
-
-
Chinnery, P.F.1
Taylor, D.J.2
Brown, D.T.3
Manners, D.4
Styles, P.5
Lodi, R.6
-
19
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon E A., Rizzuto R, Moraes C T., Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989 244 4902 346-349 (Pubitemid 19117872)
-
(1989)
Science
, vol.244
, Issue.4902
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
Nakase, H.4
Zeviani, M.5
DiMauro, S.6
-
20
-
-
0036020222
-
Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements
-
DOI 10.1016/S1096-7192(02)00024-0, PII S1096719202000240
-
Rocher C, Letellier T, Copeland W C., Lestienne P. Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. Mol Genet Metab 2002 76 2 123-132 (Pubitemid 34757135)
-
(2002)
Molecular Genetics and Metabolism
, vol.76
, Issue.2
, pp. 123-132
-
-
Rocher, C.1
Letellier, T.2
Copeland, W.C.3
Lestienne, P.4
-
21
-
-
18544387713
-
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome
-
DOI 10.1086/342482
-
Shanske S, Tang Y, Hirano M et al. Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with Pearson syndrome. Am J Hum Genet 2002 71 3 679-683 (Pubitemid 34970141)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.3
, pp. 679-683
-
-
Shanske, S.1
Tang, Y.2
Hirano, M.3
Nishigaki, Y.4
Tanji, K.5
Bonilla, E.6
Sue, C.7
Krishna, S.8
Carlo, J.R.9
Willner, J.10
Schon, E.A.11
DiMauro, S.12
-
22
-
-
0024499802
-
Duplications of mitochondrial DNA in mitochondrial myopathy
-
Poulton J, Deadman M E., Gardiner R M. Duplications of mitochondrial DNA in mitochondrial myopathy. Lancet 1989 1 8632 236-240 (Pubitemid 19045468)
-
(1989)
Lancet
, vol.1
, Issue.8632
, pp. 236-240
-
-
Poulton, J.1
Deadman, M.E.2
Gardiner, R.M.3
-
23
-
-
0027403570
-
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
-
Poulton J, Deadman M E., Bindoff L, Morten K, Land J, Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet 1993 2 1 23-30 (Pubitemid 23060743)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.1
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
Morten, K.4
Land, J.5
Brown, G.6
-
24
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
DOI 10.1038/339309a0
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989 339 6222 309-311 (Pubitemid 19130698)
-
(1989)
Nature
, vol.339
, Issue.6222
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
25
-
-
0025250482
-
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: A new autosomal dominant disease
-
Zeviani M, Bresolin N, Gellera C et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990 47 6 904-914 (Pubitemid 120024058)
-
(1990)
American Journal of Human Genetics
, vol.47
, Issue.6
, pp. 904-914
-
-
Zeviani, M.1
Bresolin, N.2
Gellera, C.3
Bordoni, A.4
Pannacci, M.5
Amati, P.6
Moggio, M.7
Servidei, S.8
Scarlato, G.9
DiDonato, S.10
-
26
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearne-Sayre syndrome
-
Moraes C T., DiMauro S, Zeviani M et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989 320 20 1293-1299 (Pubitemid 19140403)
-
(1989)
New England Journal of Medicine
, vol.320
, Issue.20
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
Bonilla, E.8
Werneck, L.C.9
Servidei, S.10
Nonaka, I.11
Koga, Y.12
Spiro, A.J.13
Brownell, A.K.W.14
Schmidt, B.15
Schotland, D.L.16
Zupanc, M.17
DeVivo, D.C.18
-
27
-
-
0030176430
-
Detection and analysis of mitochondrial DNA deletions by whole genome PCR
-
DOI 10.1006/bmme.1996.0040
-
Tengan C H., Moraes C T. Detection and analysis of mitochondrial DNA deletions by whole genome PCR. Biochem Mol Med 1996 58 1 130-134 (Pubitemid 26235230)
-
(1996)
Biochemical and Molecular Medicine
, vol.58
, Issue.1
, pp. 130-134
-
-
Tengan, C.H.1
Moraes, C.T.2
-
28
-
-
17044456392
-
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
-
He L, Chinnery P F., Durham S E. et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002 30 14 e68
-
(2002)
Nucleic Acids Res
, vol.30
, Issue.14
-
-
He, L.1
Chinnery, P.F.2
Durham, S.E.3
-
29
-
-
0032569876
-
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
-
DOI 10.1016/S0022-510X(98)00179-8, PII S0022510X98001798
-
Sue C M., Quigley A, Katsabanis S et al. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles. J Neurol Sci 1998 161 1 36-39 (Pubitemid 28559181)
-
(1998)
Journal of the Neurological Sciences
, vol.161
, Issue.1
, pp. 36-39
-
-
Sue, C.M.1
Quigley, A.2
Katsabanis, S.3
Kapsa, R.4
Crimmins, D.S.5
Byrne, E.6
Morris, J.G.L.7
-
30
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
-
Pavlakis S G., Phillips P C., DiMauro S, De Vivo D C., Rowland L P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984 16 4 481-488 (Pubitemid 14021826)
-
(1984)
Annals of Neurology
, vol.16
, Issue.4
, pp. 481-488
-
-
Pavlakis, S.G.1
Phillips, P.C.2
DiMauro, S.3
-
31
-
-
0025666322
-
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 6302 651-653 (Pubitemid 120015131)
-
(1990)
Nature
, vol.348
, Issue.6302
, pp. 651-653
-
-
Goto, Y.-I.1
Nonaka, I.2
Horai, S.3
-
32
-
-
0029072327
-
Clinical features of MELAS and mitochondrial DNA mutations
-
Goto Y. Clinical features of MELAS and mitochondrial DNA mutations. Muscle Nerve 1995 3 12 S107-S112
-
(1995)
Muscle Nerve
, vol.3
, Issue.12
-
-
Goto, Y.1
-
33
-
-
0031874059
-
Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: Implications for pathogenesis
-
Sue C M., Crimmins D S., Soo Y S. et al. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. J Neurol Neurosurg Psychiatry 1998 65 2 233-240
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.65
, Issue.2
, pp. 233-240
-
-
Sue, C.M.1
Crimmins, D.S.2
Soo, Y.S.3
-
34
-
-
0031914941
-
Cochlear origin of hearing loss in MELAS syndrome
-
DOI 10.1002/ana.410430313
-
Sue C M., Lipsett L J., Crimmins D S. et al. Cochlear origin of hearing loss in MELAS syndrome. Ann Neurol 1998 43 3 350-359 (Pubitemid 28113598)
-
(1998)
Annals of Neurology
, vol.43
, Issue.3
, pp. 350-359
-
-
Sue, C.M.1
Lipsett, L.J.2
Crimmins, D.S.3
Tsang, C.S.4
Boyages, S.C.5
Presgrave, C.M.6
Gibson, W.P.R.7
Byrne, E.8
Morris, J.G.L.9
-
35
-
-
0028328317
-
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
-
DOI 10.1056/NEJM199404073301403
-
Kadowaki T, Kadowaki H, Mori Y et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 1994 330 14 962-968 (Pubitemid 24103594)
-
(1994)
New England Journal of Medicine
, vol.330
, Issue.14
, pp. 962-968
-
-
Kadowaki, T.1
Kadowaki, H.2
Mori, Y.3
Tobe, K.4
Sakuta, R.5
Suzuki, Y.6
Tanabe, Y.7
Sakura, H.8
Awata, T.9
Goto, Y.-I.10
Hayakawa, T.11
Matsuoka, K.12
Kawamori, R.13
Kamada, T.14
Horai, S.15
Nonaka, I.16
Hagura, R.17
Akanuma, Y.18
Yazaki, Y.19
-
36
-
-
0028365102
-
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu)(UUR) gene
-
van den Ouweland J M., Lemkes H H., Trembath R C. et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu)(UUR) gene. Diabetes 1994 43 6 746-751
-
(1994)
Diabetes
, vol.43
, Issue.6
, pp. 746-751
-
-
Van Den Ouweland, J.M.1
Lemkes, H.H.2
Trembath, R.C.3
-
37
-
-
0027335882
-
A typical clinical presentations associated with the melas mutation at position 3243 of human mitochondrial DNA
-
DOI 10.1016/0960-8966(93)90040-Q
-
Moraes C T., 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 1 43-50 (Pubitemid 23186180)
-
(1993)
Neuromuscular Disorders
, vol.3
, Issue.1
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
Shanske, S.4
Sciacco, M.5
Hirano, M.6
Schon, E.A.7
Bonilla, E.8
DiMauro, S.9
-
38
-
-
0027752796
-
MELAS syndrome masquerading as herpes simplex encephalitis
-
Johns D R., Stein A G., Wityk R. MELAS syndrome masquerading as herpes simplex encephalitis. Neurology 1993 43 12 2471-2473 (Pubitemid 24004529)
-
(1993)
Neurology
, vol.43
, Issue.12
, pp. 2471-2473
-
-
Johns, D.R.1
Stein, A.G.2
Wityk, R.3
-
39
-
-
0027216950
-
Mitochondrial encephalomyopathy: Variable clinical expression within a single kindred
-
Crimmins D, Morris J G., Walker G L. et al. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. J Neurol Neurosurg Psychiatry 1993 56 8 900-905 (Pubitemid 23246152)
-
(1993)
Journal of Neurology Neurosurgery and Psychiatry
, vol.56
, Issue.8
, pp. 900-905
-
-
Crimmins, D.1
Morris, J.G.L.2
Walker, G.L.3
Sue, C.M.4
Byrne, E.5
Stevens, S.6
Jean-Francis, B.7
Yiannikas, C.8
Pamphlett, R.9
-
40
-
-
0018885541
-
Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): Disease entity or a syndrome? Light- and electron-microscopic studies of two cases and review of literature
-
DOI 10.1016/0022-510X(80)90031-3
-
Fukuhara N, Tokiguchi S, Shirakawa K, Tsubaki T. Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature. J Neurol Sci 1980 47 1 117-133 (Pubitemid 10082950)
-
(1980)
Journal of the Neurological Sciences
, vol.47
, Issue.1
, pp. 117-133
-
-
Fukuhara, N.1
Tokiguchi, S.2
Shirakawa, K.3
Tsubaki, T.4
-
41
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner J M., Lott M T., Lezza AMS, Seibel P, Ballinger S W., Wallace D C. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990 61 6 931-937
-
(1990)
Cell
, vol.61
, Issue.6
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.S.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
42
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T - - G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y, Christodoulou J, Feigenbaum A et al. Heteroplasmic mtDNA mutation (T - - G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992 50 4 852-858
-
(1992)
Am J Hum Genet
, vol.50
, Issue.4
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
-
43
-
-
0141535366
-
Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease
-
DOI 10.1002/ana.10687
-
Kirby D M., Boneh A, Chow C W. et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol 2003 54 4 473-478 (Pubitemid 37176542)
-
(2003)
Annals of Neurology
, vol.54
, Issue.4
, pp. 473-478
-
-
Kirby, D.M.1
Boneh, A.2
Chow, C.W.3
Ohtake, A.4
Ryan, M.T.5
Thyagarajan, D.6
Thorburn, D.R.7
-
44
-
-
33846008430
-
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing leigh syndrome and dystonia
-
DOI 10.1002/ajmg.a.31565
-
Sarzi E, Brown M D., Lebon S et al. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A 2007 143 1 33-41 (Pubitemid 46051469)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.1
, pp. 33-41
-
-
Sarzi, E.1
Brown, M.D.2
Lebon, S.3
Chretien, D.4
Munnich, A.5
Rotig, A.6
Procaccio, V.7
-
46
-
-
0030060823
-
Use of transmitochondrial cybrids to assign a complex i defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
-
Jun A S., Trounce I A., Brown M D., Shoffner J M., Wallace D C. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol 1996 16 3 771-777
-
(1996)
Mol Cell Biol
, vol.16
, Issue.3
, pp. 771-777
-
-
Jun, A.S.1
Trounce, I.A.2
Brown, M.D.3
Shoffner, J.M.4
Wallace, D.C.5
-
47
-
-
33947278405
-
Population prevalence of the MELAS A3243G mutation
-
DOI 10.1016/j.mito.2006.12.004, PII S1567724907000037
-
Manwaring N, Jones M M., Wang J J. et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007 7 3 230-233 (Pubitemid 46420125)
-
(2007)
Mitochondrion
, vol.7
, Issue.3
, pp. 230-233
-
-
Manwaring, N.1
Jones, M.M.2
Wang, J.J.3
Rochtchina, E.4
Howard, C.5
Mitchell, P.6
Sue, C.M.7
-
48
-
-
59749096341
-
Prevalence of mitochondrial 1555A>G mutation in adults of European descent
-
Vandebona H, Mitchell P, Manwaring N et al. Prevalence of mitochondrial 1555A>G mutation in adults of European descent. N Engl J Med 2009 360 6 642-644
-
(2009)
N Engl J Med
, vol.360
, Issue.6
, pp. 642-644
-
-
Vandebona, H.1
Mitchell, P.2
Manwaring, N.3
-
49
-
-
23644436319
-
Disorders of nuclear-mitochondrial intergenomic signaling
-
DOI 10.1016/j.gene.2005.03.025, PII S0378111905001769
-
Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2005 354 162-168 (Pubitemid 41116697)
-
(2005)
Gene
, vol.354
, Issue.1-2 SPEC. ISSUE
, pp. 162-168
-
-
Spinazzola, A.1
Zeviani, M.2
-
50
-
-
46349103594
-
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
-
DOI 10.1016/j.cell.2008.06.016, PII S009286740800768X
-
Pagliarini D J., Calvo S E., Chang B et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008 134 1 112-123 (Pubitemid 351916708)
-
(2008)
Cell
, vol.134
, Issue.1
, pp. 112-123
-
-
Pagliarini, D.J.1
Calvo, S.E.2
Chang, B.3
Sheth, S.A.4
Vafai, S.B.5
Ong, S.-E.6
Walford, G.A.7
Sugiana, C.8
Boneh, A.9
Chen, W.K.10
Hill, D.E.11
Vidal, M.12
Evans, J.G.13
Thorburn, D.R.14
Carr, S.A.15
Mootha, V.K.16
-
51
-
-
58149349815
-
Mitochondrial medicine: Entering the era of treatment
-
Koene S, Smeitink J. Mitochondrial medicine: entering the era of treatment. J Intern Med 2009 265 2 193-209
-
(2009)
J Intern Med
, vol.265
, Issue.2
, pp. 193-209
-
-
Koene, S.1
Smeitink, J.2
-
52
-
-
77956255221
-
Molecular genetics of mitochondrial disorders
-
Wong L-JC. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev 2010 16 2 154-162
-
(2010)
Dev Disabil Res Rev
, vol.16
, Issue.2
, pp. 154-162
-
-
Wong, L.-J.1
-
53
-
-
13244277454
-
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
-
Quinzii C M., Kattah A G., Naini A et al. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology 2005 64 3 539-541 (Pubitemid 40189878)
-
(2005)
Neurology
, vol.64
, Issue.3
, pp. 539-541
-
-
Quinzii, C.M.1
Kattah, A.G.2
Naini, A.3
Akman, H.O.4
Mootha, V.K.5
DiMauro, S.6
Hirano, M.7
-
54
-
-
33847347629
-
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
-
DOI 10.1172/JCI29089
-
Mollet J, Giurgea I, Schlemmer D et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest 2007 117 3 765-772 (Pubitemid 46348535)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.3
, pp. 765-772
-
-
Mollet, J.1
Giurgea, I.2
Schlemmer, D.3
Dallner, G.4
Chretien, D.5
Delahodde, A.6
Bacq, D.7
De Lonlay, P.8
Munnich, A.9
Rotig, A.10
-
55
-
-
41149121580
-
10 Deficiency
-
DOI 10.1016/j.ajhg.2007.12.024, PII S0002929708001523
-
Lagier-Tourenne C, Tazir M, Lpez L C. et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008 82 3 661-672 (Pubitemid 351735958)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.3
, pp. 661-672
-
-
Lagier-Tourenne, C.1
Tazir, M.2
Lopez, L.C.3
Quinzii, C.M.4
Assoum, M.5
Drouot, N.6
Busso, C.7
Makri, S.8
Ali-Pacha, L.9
Benhassine, T.10
Anheim, M.11
Lynch, D.R.12
Thibault, C.13
Plewniak, F.14
Bianchetti, L.15
Tranchant, C.16
Poch, O.17
DiMauro, S.18
Mandel, J.-L.19
Barros, M.H.20
Hirano, M.21
Koenig, M.22
more..
-
56
-
-
41149134880
-
CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures
-
DOI 10.1016/j.ajhg.2007.12.022, PII S000292970800147X
-
Mollet J, Delahodde A, Serre V et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008 82 3 623-630 (Pubitemid 351735957)
-
(2008)
American Journal of Human Genetics
, vol.82
, Issue.3
, pp. 623-630
-
-
Mollet, J.1
Delahodde, A.2
Serre, V.3
Chretien, D.4
Schlemmer, D.5
Lombes, A.6
Boddaert, N.7
Desguerre, I.8
De Lonlay, P.9
Ogier De Baulny, H.10
Munnich, A.11
Rotig, A.12
-
57
-
-
31544480133
-
10 deficiency
-
DOI 10.1086/500092
-
Quinzii C, Naini A, Salviati L et al. A mutation in para-hydroxybenzoate- polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet 2006 78 2 345-349 (Pubitemid 43157573)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 345-349
-
-
Quinzii, C.1
Naini, A.2
Salviati, L.3
Trevisson, E.4
Navas, P.5
DiMauro, S.6
Hirano, M.7
-
58
-
-
34248171499
-
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
-
DOI 10.1093/brain/awm054
-
Gempel K, Topaloglu H, Talim B et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007 130 Pt 8 2037-2044 (Pubitemid 47236610)
-
(2007)
Brain
, vol.130
, Issue.8
, pp. 2037-2044
-
-
Gempel, K.1
Topaloglu, H.2
Talim, B.3
Schneiderat, P.4
Schoser, B.G.H.5
Hans, V.H.6
Palmafy, B.7
Kale, G.8
Tokatli, A.9
Quinzii, C.10
Hirano, M.11
Naini, A.12
DiMauro, S.13
Prokisch, H.14
Lochmuller, H.15
Horvath, R.16
-
59
-
-
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 5402 689-692
-
(1999)
Science
, vol.283
, Issue.5402
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
60
-
-
23644432014
-
Thymidine phosphorylase mutations cause instability of mitochondrial DNA
-
DOI 10.1016/j.gene.2005.04.041, PII S0378111905001976
-
Hirano M, Lagier-Tourenne C, Valentino M L., Mart R, Nishigaki Y. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene 2005 354 152-156 (Pubitemid 41116695)
-
(2005)
Gene
, vol.354
, Issue.1-2 SPEC. ISSUE
, pp. 152-156
-
-
Hirano, M.1
Lagier-Tourenne, C.2
Valentino, M.L.3
Marti, R.4
Nishigaki, Y.5
-
61
-
-
33750306390
-
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE
-
DOI 10.1212/01.wnl.0000240853.97716.24, PII 0000611420061024000029
-
Hirano M, Mart R, Casali C et al. Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Neurology 2006 67 8 1458-1460 (Pubitemid 44632073)
-
(2006)
Neurology
, vol.67
, Issue.8
, pp. 1458-1460
-
-
Hirano, M.1
Marti, R.2
Casali, C.3
Tadesse, S.4
Uldrick, T.5
Fine, B.6
Escolar, D.M.7
Valentino, M.L.8
Nishino, I.9
Hesdorffer, C.10
Schwartz, J.11
Hawks, R.G.12
Martone, D.L.13
Cairo, M.S.14
DiMauro, S.15
Stanzani, M.16
Garvin Jr., J.H.17
Savage, D.G.18
-
62
-
-
84856200000
-
-
In: DiMauro S. Hirano M. Schon E. eds. Mitochondrial Medicine London Informa Healthcare
-
DiMauro S, Hirano M, Kaufmann P, Mann J J. Mitochondrial psychiatry. In: DiMauro S Hirano M Schon E eds. Mitochondrial Medicine. London Informa Healthcare 2006 261-277
-
(2006)
Mitochondrial Psychiatry
, pp. 261-277
-
-
Dimauro, S.1
Hirano, M.2
Kaufmann, P.3
Mann, J.J.4
-
63
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
-
DOI 10.1093/brain/awl088
-
Horvath R, Hudson G, Ferrari G et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006 129 Pt 7 1674-1684 (Pubitemid 43999402)
-
(2006)
Brain
, vol.129
, Issue.7
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
Futterer, N.4
Ahola, S.5
Lamantea, E.6
Prokisch, H.7
Lochmuller, H.8
McFarland, R.9
Ramesh, V.10
Klopstock, T.11
Freisinger, P.12
Salvi, F.13
Mayr, J.A.14
Santer, R.15
Tesarova, M.16
Zeman, J.17
Udd, B.18
Taylor, R.W.19
Turnbull, D.20
Hanna, M.21
Fialho, D.22
Suomalainen, A.23
Zeviani, M.24
Chinnery, P.F.25
more..
-
64
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
-
DOI 10.1086/504303
-
Longley M J., Clark S, Yu Wai Man C et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006 78 6 1026-1034 (Pubitemid 43787693)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.6
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Man, C.Y.W.3
Hudson, G.4
Durham, S.E.5
Taylor, R.W.6
Nightingale, S.7
Turnbull, D.M.8
Copeland, W.C.9
Chinnery, P.F.10
-
65
-
-
0033046823
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
-
DOI 10.1023/A:1005568609936
-
Barth P G., Wanders R J., Vreken P, Janssen E A., Lam J, Baas F. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 1999 22 4 555-567 (Pubitemid 29281043)
-
(1999)
Journal of Inherited Metabolic Disease
, vol.22
, Issue.4
, pp. 555-567
-
-
Barth, P.G.1
Wanders, R.J.A.2
Vreken, P.3
Janssen, E.A.M.4
Lam, J.5
Baas, F.6
-
66
-
-
0344413426
-
Mitochondrial fission in apoptosis, neurodegeneration and aging
-
DOI 10.1016/j.ceb.2003.10.015
-
Bossy-Wetzel E, Barsoum M J., Godzik A, Schwarzenbacher R, Lipton S A. Mitochondrial fission in apoptosis, neurodegeneration and aging. Curr Opin Cell Biol 2003 15 6 706-716 (Pubitemid 37487964)
-
(2003)
Current Opinion in Cell Biology
, vol.15
, Issue.6
, pp. 706-716
-
-
Bossy-Wetzel, E.1
Barsoum, M.J.2
Godzik, A.3
Schwarzenbacher, R.4
Lipton, S.A.5
-
67
-
-
4644258352
-
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
-
Fichera M, Lo Giudice M, Falco M et al. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 2004 63 6 1108-1110 (Pubitemid 39287929)
-
(2004)
Neurology
, vol.63
, Issue.6
, pp. 1108-1110
-
-
Fichera, M.1
Lo Giudice, M.2
Falco, M.3
Sturnio, M.4
Amata, S.5
Calabrese, O.6
Bigoni, S.7
Calzolari, E.8
Neri, M.9
-
68
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C, Lenaers G, Griffoin J-M et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000 26 2 207-210
-
(2000)
Nat Genet
, vol.26
, Issue.2
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.-M.3
-
69
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
DOI 10.1038/ng1341
-
Züchner S, Mersiyanova I V., Muglia M et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004 36 5 449-451 (Pubitemid 38620027)
-
(2004)
Nature Genetics
, vol.36
, Issue.5
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
Zappia, M.7
Nelis, E.8
Patitucci, A.9
Senderek, J.10
Parman, Y.11
Evgrafov, O.12
De Jonghe, P.13
Takahashi, Y.14
Tsuji, S.15
Pericak-Vance, M.A.16
Quattrone, A.17
Battologlu, E.18
Polyakov, A.V.19
Timmerman, V.20
Schroder, J.M.21
Vance, J.M.22
more..
-
70
-
-
22544465572
-
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
-
DOI 10.1212/01.wnl.0000168898.76071.70
-
Lawson V H., Graham B V., Flanigan K M. Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 2005 65 2 197-204 (Pubitemid 41022361)
-
(2005)
Neurology
, vol.65
, Issue.2
, pp. 197-204
-
-
Lawson, V.H.1
Graham, B.V.2
Flanigan, K.M.3
-
71
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
DOI 10.1002/ana.20797
-
Züchner S, De Jonghe P, Jordanova A et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006 59 2 276-281 (Pubitemid 43202480)
-
(2006)
Annals of Neurology
, vol.59
, Issue.2
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
Claeys, K.G.4
Guergueltcheva, V.5
Cherninkova, S.6
Hamilton, S.R.7
Van Stavern, G.8
Krajewski, K.M.9
Stajich, J.10
Tournev, I.11
Verhoeven, K.12
Langerhorst, C.T.13
De Visser, M.14
Baas, F.15
Bird, T.16
Timmerman, V.17
Shy, M.18
Vance, J.M.19
|