-
1
-
-
0006160557
-
Chapter 4, anatomy of the visual sensory system
-
Glaser J.S. (Ed), Lippincott Williams and Wilkins, Philadelphia
-
Sadun A.A., and Glaser J.S. Chapter 4, anatomy of the visual sensory system. In: Glaser J.S. (Ed). Neuro-ophthalmology. 3rd Ed (1999), Lippincott Williams and Wilkins, Philadelphia 75-94
-
(1999)
Neuro-ophthalmology. 3rd Ed
, pp. 75-94
-
-
Sadun, A.A.1
Glaser, J.S.2
-
3
-
-
34250630964
-
Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
-
Carelli V., La Morgia C., Iommarini L., Carroccia R., Mattiazzi M., Sangiorgi S., Farne' S., Maresca A., Foscarini B., Lanzi L., Amadori M., Bellan M., and Valentino M.L. Mitochondrial optic neuropathies: how two genomes may kill the same cell type?. Biosci. Rep. 27 (2007) 173-184
-
(2007)
Biosci. Rep.
, vol.27
, pp. 173-184
-
-
Carelli, V.1
La Morgia, C.2
Iommarini, L.3
Carroccia, R.4
Mattiazzi, M.5
Sangiorgi, S.6
Farne', S.7
Maresca, A.8
Foscarini, B.9
Lanzi, L.10
Amadori, M.11
Bellan, M.12
Valentino, M.L.13
-
4
-
-
26444437758
-
Optic neuropathies-importance of spatial distribution of mitochondria as well as function
-
Yu-Wai-Man P., Chinnery P.F., and Griffiths P.G. Optic neuropathies-importance of spatial distribution of mitochondria as well as function. Med. Hypotheses 65 (2005) 1038-1042
-
(2005)
Med. Hypotheses
, vol.65
, pp. 1038-1042
-
-
Yu-Wai-Man, P.1
Chinnery, P.F.2
Griffiths, P.G.3
-
5
-
-
33748044052
-
Chapter 5. Mitochondrial ophthalmology
-
Di Mauro S., Hirano M., and Schon E. (Eds), Informa Healthcare Abingdon, Oxon, UK
-
Carelli V., Barboni P., and Sadun A.A. Chapter 5. Mitochondrial ophthalmology. In: Di Mauro S., Hirano M., and Schon E. (Eds). Mitochondrial medicine (2006), Informa Healthcare Abingdon, Oxon, UK 105-142
-
(2006)
Mitochondrial medicine
, pp. 105-142
-
-
Carelli, V.1
Barboni, P.2
Sadun, A.A.3
-
6
-
-
34447600937
-
Uber hereditare und congenital-angelegte Sehnervenleiden
-
Leber T. Uber hereditare und congenital-angelegte Sehnervenleiden. Arch. Ophthalmol. 17 (1871) 249-291
-
(1871)
Arch. Ophthalmol.
, vol.17
, pp. 249-291
-
-
Leber, T.1
-
7
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., Singh G., Lott M.T., Hodge J.A., Schurr T.G., Lezza A.M., Elsas L.J., and Nikoskelainen E.K. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
8
-
-
84924064715
-
Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families
-
Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol. Scand. 37 (1959) 1-146
-
(1959)
Acta Ophthalmol. Scand.
, vol.37
, pp. 1-146
-
-
Kjer, P.1
-
9
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander C., Votruba M., Pesch U.E.A., Thiselton D.L., Mayer S., Moore A., Rodriguez M., Kellner U., Leo-Kottler B., Auburger G., Bhattacharya S.S., and Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26 (2000) 211-215
-
(2000)
Nat. Genet.
, vol.26
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.A.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
Rodriguez, M.7
Kellner, U.8
Leo-Kottler, B.9
Auburger, G.10
Bhattacharya, S.S.11
Wissinger, B.12
-
10
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre C., Lenaers G., Griffoin J.-M., Gigarel N., Lorenzo C., Belenguer P., Pelloquin L., Grosgeorge J., Turc-Carel C., Perret E., Astarie-Dequeker C., Lasquellec L., Arnaud B., Ducommun B., Kaplan J., and Hamel C.P. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26 (2000) 207-210
-
(2000)
Nat. Genet.
, vol.26
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.-M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
Pelloquin, L.7
Grosgeorge, J.8
Turc-Carel, C.9
Perret, E.10
Astarie-Dequeker, C.11
Lasquellec, L.12
Arnaud, B.13
Ducommun, B.14
Kaplan, J.15
Hamel, C.P.16
-
11
-
-
62149149553
-
Inherited mitochondrial optic neuropathies
-
Yu-Wai-Man P., Griffiths P.G., Hudson G., and Chinnery P.F. Inherited mitochondrial optic neuropathies. J. Med. Genet. 46 3 (2009) 145-158
-
(2009)
J. Med. Genet.
, vol.46
, Issue.3
, pp. 145-158
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Hudson, G.3
Chinnery, P.F.4
-
12
-
-
33846301708
-
The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White
-
Ruiter E.M., Siers M.H., van den Elzen C., van Engelen B.G., Smeitink J.A., Rodenburg R.J., and Hol F.A. The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Eur. J. Hum. Genet. 15 (2007) 155-161
-
(2007)
Eur. J. Hum. Genet.
, vol.15
, pp. 155-161
-
-
Ruiter, E.M.1
Siers, M.H.2
van den Elzen, C.3
van Engelen, B.G.4
Smeitink, J.A.5
Rodenburg, R.J.6
Hol, F.A.7
-
13
-
-
0032707838
-
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
-
Pulkes T., Eunson L., Patterson V., Siddiqui A., Wood N.W., Nelson I.P., Morgan-Hughes J.A., and Hanna M.G. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann. Neurol. 46 (1999) 916-919
-
(1999)
Ann. Neurol.
, vol.46
, pp. 916-919
-
-
Pulkes, T.1
Eunson, L.2
Patterson, V.3
Siddiqui, A.4
Wood, N.W.5
Nelson, I.P.6
Morgan-Hughes, J.A.7
Hanna, M.G.8
-
14
-
-
34250315738
-
A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia
-
Spruijt L., Smeets H.J., Hendrickx A., Bettink-Remeijer M.W., Maat-Kievit A., Schoonderwoerd K.C., Sluiter W., de Coo I.F., and Hintzen R.Q. A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia. Arch. Neurol. 64 (2007) 890-893
-
(2007)
Arch. Neurol.
, vol.64
, pp. 890-893
-
-
Spruijt, L.1
Smeets, H.J.2
Hendrickx, A.3
Bettink-Remeijer, M.W.4
Maat-Kievit, A.5
Schoonderwoerd, K.C.6
Sluiter, W.7
de Coo, I.F.8
Hintzen, R.Q.9
-
15
-
-
18844406450
-
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation
-
Blakely E.L., de Silva R., King A., Schwarzer V., Harrower T., Dawidek G., Turnbull D.M., and Taylor R.W. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur. J. Hum. Genet. 13 (2005) 623-627
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 623-627
-
-
Blakely, E.L.1
de Silva, R.2
King, A.3
Schwarzer, V.4
Harrower, T.5
Dawidek, G.6
Turnbull, D.M.7
Taylor, R.W.8
-
16
-
-
33746862082
-
The 13042G → A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype
-
Valentino M.L., Barboni P., Rengo C., Achilli A., Torroni A., Lodi R., Tonon C., Barbiroli B., Fortuna F., Montagna P., Baruzzi A., and Carelli V. The 13042G → A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J. Med. Genet. 43 (2006) e38
-
(2006)
J. Med. Genet.
, vol.43
-
-
Valentino, M.L.1
Barboni, P.2
Rengo, C.3
Achilli, A.4
Torroni, A.5
Lodi, R.6
Tonon, C.7
Barbiroli, B.8
Fortuna, F.9
Montagna, P.10
Baruzzi, A.11
Carelli, V.12
-
17
-
-
58849095750
-
Visual system involvement in patients with Friedreich's ataxia
-
Fortuna F., Barboni P., Liguori R., Valentino M.L., Savini G., Gellera C., Mariotti C., Rizzo G., Tonon C., Manners D., Lodi R., Sadun A.A., and Carelli V. Visual system involvement in patients with Friedreich's ataxia. Brain 132 (2009) 116-123
-
(2009)
Brain
, vol.132
, pp. 116-123
-
-
Fortuna, F.1
Barboni, P.2
Liguori, R.3
Valentino, M.L.4
Savini, G.5
Gellera, C.6
Mariotti, C.7
Rizzo, G.8
Tonon, C.9
Manners, D.10
Lodi, R.11
Sadun, A.A.12
Carelli, V.13
-
18
-
-
17944399388
-
Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene
-
Tranebjaerg L., Jensen P.K., Van Ghelue M., Vnencak-Jones C.L., Sund S., Elgjo K., Jakobsen J., Lindal S., Warburg M., Fuglsang-Frederiksen A., and Skullerud K. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. Ophthalmic Genet. 22 (2001) 207-223
-
(2001)
Ophthalmic Genet.
, vol.22
, pp. 207-223
-
-
Tranebjaerg, L.1
Jensen, P.K.2
Van Ghelue, M.3
Vnencak-Jones, C.L.4
Sund, S.5
Elgjo, K.6
Jakobsen, J.7
Lindal, S.8
Warburg, M.9
Fuglsang-Frederiksen, A.10
Skullerud, K.11
-
19
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari G., De Fusco M., Ciarmatori S., Zeviani M., Mora M., Fernandez P., De Michele G., Filla A., Cocozza S., Marconi R., Dürr A., Fontaine B., and Ballabio A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93 (1998) 973-983
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
De Fusco, M.2
Ciarmatori, S.3
Zeviani, M.4
Mora, M.5
Fernandez, P.6
De Michele, G.7
Filla, A.8
Cocozza, S.9
Marconi, R.10
Dürr, A.11
Fontaine, B.12
Ballabio, A.13
-
20
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
-
Amati-Bonneau P., Valentino M.L., Reynier P., Gallardo M.E., Bornstein B., Boissière A., Campos Y., Rivera H., de la Aleja J.G., Carroccia R., Iommarini L., Labauge P., Figarella-Branger D., Marcorelles P., Furby A., Beauvais K., Letournel F., Liguori R., La Morgia C., Montagna P., Liguori M., Zanna C., Rugolo M., Cossarizza A., Wissinger B., Verny C., Schwarzenbacher R., Martín M.A., Arenas J., Ayuso C., Garesse R., Lenaers G., Bonneau D., and Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 131 (2008) 338-351
-
(2008)
Brain
, vol.131
, pp. 338-351
-
-
Amati-Bonneau, P.1
Valentino, M.L.2
Reynier, P.3
Gallardo, M.E.4
Bornstein, B.5
Boissière, A.6
Campos, Y.7
Rivera, H.8
de la Aleja, J.G.9
Carroccia, R.10
Iommarini, L.11
Labauge, P.12
Figarella-Branger, D.13
Marcorelles, P.14
Furby, A.15
Beauvais, K.16
Letournel, F.17
Liguori, R.18
La Morgia, C.19
Montagna, P.20
Liguori, M.21
Zanna, C.22
Rugolo, M.23
Cossarizza, A.24
Wissinger, B.25
Verny, C.26
Schwarzenbacher, R.27
Martín, M.A.28
Arenas, J.29
Ayuso, C.30
Garesse, R.31
Lenaers, G.32
Bonneau, D.33
Carelli, V.34
more..
-
21
-
-
38849151612
-
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
-
Hudson G., Amati-Bonneau P., Blakely E.L., Stewart J.D., He L., Schaefer A.M., Griffiths P.G., Ahlqvist K., Suomalainen A., Reynier P., McFarland R., Turnbull D.M., Chinnery P.F., and Taylor R.W. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 131 (2008) 329-337
-
(2008)
Brain
, vol.131
, pp. 329-337
-
-
Hudson, G.1
Amati-Bonneau, P.2
Blakely, E.L.3
Stewart, J.D.4
He, L.5
Schaefer, A.M.6
Griffiths, P.G.7
Ahlqvist, K.8
Suomalainen, A.9
Reynier, P.10
McFarland, R.11
Turnbull, D.M.12
Chinnery, P.F.13
Taylor, R.W.14
-
22
-
-
0141793758
-
Hereditary motor and sensory neuropathy type VI with optic atrophy
-
Voo I., Allf B.E., Udar N., Silva-Garcia R., Vance J., and Small K.W. Hereditary motor and sensory neuropathy type VI with optic atrophy. Am. J. Ophthalmol. 136 (2003) 670-677
-
(2003)
Am. J. Ophthalmol.
, vol.136
, pp. 670-677
-
-
Voo, I.1
Allf, B.E.2
Udar, N.3
Silva-Garcia, R.4
Vance, J.5
Small, K.W.6
-
23
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Züchner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., Zappia M., Nelis E., Patitucci A., Senderek J., Parman Y., Evgrafov O., Jonghe P.D., Takahashi Y., Tsuji S., Pericak-Vance M.A., Quattrone A., Battaloglu E., Polyakov A.V., Timmerman V., Schröder J.M., and Vance J.M. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36 (2004) 449-451
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Züchner, 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
Jonghe, P.D.13
Takahashi, Y.14
Tsuji, S.15
Pericak-Vance, M.A.16
Quattrone, A.17
Battaloglu, E.18
Polyakov, A.V.19
Timmerman, V.20
Schröder, J.M.21
Vance, J.M.22
more..
-
24
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
Züchner S., De Jonghe P., Jordanova A., Claeys K.G., Guergueltcheva V., Cherninkova S., Hamilton S.R., Van Stavern G., Krajewski K.M., Stajich J., Tournev I., Verhoeven K., Langerhorst C.T., de Visser M., Baas F., Bird T., Timmerman V., Shy M., and Vance J.M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 59 (2006) 276-281
-
(2006)
Ann. Neurol.
, vol.59
, pp. 276-281
-
-
Züchner, 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
-
25
-
-
0024582283
-
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia
-
Costeff H., Gadoth N., Apter N., Prialnic M., and Savir H. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology 39 (1989) 595-597
-
(1989)
Neurology
, vol.39
, pp. 595-597
-
-
Costeff, H.1
Gadoth, N.2
Apter, N.3
Prialnic, M.4
Savir, H.5
-
26
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y., Kleta R., Shaag A., Gahl W.A., and Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am. J. Hum. Genet. 69 (2001) 1218-1224
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
27
-
-
17644401441
-
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
-
Reynier P., Amati-Bonneau P., Verny C., Olichon A., Simard G., Guichet A., Bonnemains C., Malecaze F., Malinge M.C., Pelletier J.B., Calvas P., Dollfus H., Belenguer P., Malthièry Y., Lenaers G., and Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J. Med. Genet. 41 (2004) e110
-
(2004)
J. Med. Genet.
, vol.41
-
-
Reynier, P.1
Amati-Bonneau, P.2
Verny, C.3
Olichon, A.4
Simard, G.5
Guichet, A.6
Bonnemains, C.7
Malecaze, F.8
Malinge, M.C.9
Pelletier, J.B.10
Calvas, P.11
Dollfus, H.12
Belenguer, P.13
Malthièry, Y.14
Lenaers, G.15
Bonneau, D.16
-
28
-
-
17644393817
-
An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs
-
Verny C., Amati-Bonneau P., Dubas F., Malthiéry Y., Reynier P., and Bonneau D. An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs. Rev. Neurol. (Paris) 161 (2005) 451-454
-
(2005)
Rev. Neurol. (Paris)
, vol.161
, pp. 451-454
-
-
Verny, C.1
Amati-Bonneau, P.2
Dubas, F.3
Malthiéry, Y.4
Reynier, P.5
Bonneau, D.6
-
29
-
-
0025944560
-
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N., Bindoff L.A., McCullough D.A., Kubacka I., Poulton J., Mackey D., Taylor L., and Turnbull D.M. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am. J. Hum. Genet. 49 (1991) 939-950
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 939-950
-
-
Howell, N.1
Bindoff, L.A.2
McCullough, D.A.3
Kubacka, I.4
Poulton, J.5
Mackey, D.6
Taylor, L.7
Turnbull, D.M.8
-
30
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns D.R., Neufeld M.J., and Park R.D. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Comm. 187 (1992) 1551-1557
-
(1992)
Biochem. Biophys. Res. Comm.
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
31
-
-
0037322524
-
The epidemiology of Leber hereditary optic neuropathy in the North East of England
-
Man P.Y., Griffiths P.G., Brown D.T., Howell N., Turnbull D.M., and Chinnery P.F. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am. J. Hum. Genet. 72 (2003) 333-339
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 333-339
-
-
Man, P.Y.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
Chinnery, P.F.6
-
32
-
-
0015815660
-
Ocular fundus in acute Leber optic neuropathy
-
Smith J.L., Hoyt W.F., and Susac J.O. Ocular fundus in acute Leber optic neuropathy. Arch. Ophthalmol. 90 (1973) 349-354
-
(1973)
Arch. Ophthalmol.
, vol.90
, pp. 349-354
-
-
Smith, J.L.1
Hoyt, W.F.2
Susac, J.O.3
-
33
-
-
0020602931
-
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members
-
Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in affected family members. Arch. Ophthalmol. 101 (1983) 1059-1068
-
(1983)
Arch. Ophthalmol.
, vol.101
, pp. 1059-1068
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
-
34
-
-
0021255222
-
Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies
-
Nikoskelainen E., Hoyt W.F., Nummelin K., and Schatz H. Fundus findings in Leber's hereditary optic neuropathy. III. Fluorescein angiographic studies. Arch. Ophthalmol. 102 (1984) 981-989
-
(1984)
Arch. Ophthalmol.
, vol.102
, pp. 981-989
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
Schatz, H.4
-
35
-
-
0019989454
-
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members
-
Nikoskelainen E., Hoyt W.F., and Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. Arch. Ophthalmol. 100 (1982) 1597-1602
-
(1982)
Arch. Ophthalmol.
, vol.100
, pp. 1597-1602
-
-
Nikoskelainen, E.1
Hoyt, W.F.2
Nummelin, K.3
-
37
-
-
31144477018
-
Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy
-
Bose S., Dhillon N., Ross-Cisneros F.N., and Carelli V. Relative post-mortem sparing of afferent pupil fibers in a patient with 3460 Leber's hereditary optic neuropathy. Graefes Arch. Clin. Exp. Ophthalmol. 243 (2005) 1175-1179
-
(2005)
Graefes Arch. Clin. Exp. Ophthalmol.
, vol.243
, pp. 1175-1179
-
-
Bose, S.1
Dhillon, N.2
Ross-Cisneros, F.N.3
Carelli, V.4
-
38
-
-
0026554382
-
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
-
Stone E.M., Newman N.J., Miller N.R., Johns D.R., Lott M.T., and Wallace D.C. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J. Clin. Neuroophthalmol. 12 (1992) 10-14
-
(1992)
J. Clin. Neuroophthalmol.
, vol.12
, pp. 10-14
-
-
Stone, E.M.1
Newman, N.J.2
Miller, N.R.3
Johns, D.R.4
Lott, M.T.5
Wallace, D.C.6
-
39
-
-
0026746739
-
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
-
Mackey D., and Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am. J. Hum. Genet. 51 (1992) 1218-1228
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1218-1228
-
-
Mackey, D.1
Howell, N.2
-
40
-
-
0032192258
-
Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery
-
Pezzi P.P., De Negri A.M., Sadun F., Carelli V., and Leuzzi V. Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery. Pediatr. Neurol. 19 (1998) 308-312
-
(1998)
Pediatr. Neurol.
, vol.19
, pp. 308-312
-
-
Pezzi, P.P.1
De Negri, A.M.2
Sadun, F.3
Carelli, V.4
Leuzzi, V.5
-
41
-
-
0001626214
-
Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy
-
Sadun A.A., Kashima Y., Wurdeman A.E., Dao J., Heller K., and Sherman J. Morphological findings in the visual system in a case of Leber's hereditary optic neuropathy. Clin. Neurosci. 2 (1994) 165-172
-
(1994)
Clin. Neurosci.
, vol.2
, pp. 165-172
-
-
Sadun, A.A.1
Kashima, Y.2
Wurdeman, A.E.3
Dao, J.4
Heller, K.5
Sherman, J.6
-
42
-
-
0034520010
-
Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve
-
Sadun A.A., Win P.H., Ross-Cisneros F.N., Walker S.O., and Carelli V. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans. Am. Ophthalmol. Soc. 98 (2000) 223-232
-
(2000)
Trans. Am. Ophthalmol. Soc.
, vol.98
, pp. 223-232
-
-
Sadun, A.A.1
Win, P.H.2
Ross-Cisneros, F.N.3
Walker, S.O.4
Carelli, V.5
-
43
-
-
19944427648
-
Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy
-
Barboni P., Savini G., Valentino M.L., Montagna P., Cortelli P., De Negri A.M., Sadun F., Bianchi S., Longanesi L., Zanini M., De Vivo A., and Carelli V. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. Ophthalmology 112 (2005) 120-126
-
(2005)
Ophthalmology
, vol.112
, pp. 120-126
-
-
Barboni, P.1
Savini, G.2
Valentino, M.L.3
Montagna, P.4
Cortelli, P.5
De Negri, A.M.6
Sadun, F.7
Bianchi, S.8
Longanesi, L.9
Zanini, M.10
De Vivo, A.11
Carelli, V.12
-
44
-
-
16244413197
-
Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study
-
Savini G., Zanini M., Carelli V., Sadun A.A., Ross-Cisneros F.N., and Barboni P. Correlation between retinal nerve fibre layer thickness and optic nerve head size: an optical coherence tomography study. Br. J. Ophthalmol. 89 (2005) 489-492
-
(2005)
Br. J. Ophthalmol.
, vol.89
, pp. 489-492
-
-
Savini, G.1
Zanini, M.2
Carelli, V.3
Sadun, A.A.4
Ross-Cisneros, F.N.5
Barboni, P.6
-
45
-
-
33645344999
-
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees
-
Carelli V., Achilli A., Valentino M.L., Rengo C., Semino O., Pala M., Olivieri A., Mattiazzi M., Pallotti F., Carrara F., Zeviani M., Leuzzi V., Carducci C., Valle G., Simionati B., Mendieta L., Salomao S., Belfort Jr. R., Sadun A.A., and Torroni A. Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am. J. Hum. Genet. 78 (2006) 564-574
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 564-574
-
-
Carelli, V.1
Achilli, A.2
Valentino, M.L.3
Rengo, C.4
Semino, O.5
Pala, M.6
Olivieri, A.7
Mattiazzi, M.8
Pallotti, F.9
Carrara, F.10
Zeviani, M.11
Leuzzi, V.12
Carducci, C.13
Valle, G.14
Simionati, B.15
Mendieta, L.16
Salomao, S.17
Belfort Jr., R.18
Sadun, A.A.19
Torroni, A.20
more..
-
46
-
-
34547796899
-
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
-
Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort Jr. R., Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., and Chinnery P.F. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am. J. Hum. Genet. 81 (2007) 228-233
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 228-233
-
-
Hudson, G.1
Carelli, V.2
Spruijt, L.3
Gerards, M.4
Mowbray, C.5
Achilli, A.6
Pyle, A.7
Elson, J.8
Howell, N.9
La Morgia, C.10
Valentino, M.L.11
Huoponen, K.12
Savontaus, M.L.13
Nikoskelainen, E.14
Sadun, A.A.15
Salomao, S.R.16
Belfort Jr., R.17
Griffiths, P.18
Man, P.Y.19
de Coo, R.F.20
Horvath, R.21
Zeviani, M.22
Smeets, H.J.23
Torroni, A.24
Chinnery, P.F.25
more..
-
47
-
-
41649105167
-
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus
-
La Morgia C., Achilli A., Iommarini L., Barboni P., Pala M., Olivieri A., Zanna C., Vidoni S., Tonon C., Lodi R., Vetrugno R., Mostacci B., Liguori R., Carroccia R., Montagna P., Rugolo M., Torroni A., and Carelli V. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology 70 (2008) 762-770
-
(2008)
Neurology
, vol.70
, pp. 762-770
-
-
La Morgia, C.1
Achilli, A.2
Iommarini, L.3
Barboni, P.4
Pala, M.5
Olivieri, A.6
Zanna, C.7
Vidoni, S.8
Tonon, C.9
Lodi, R.10
Vetrugno, R.11
Mostacci, B.12
Liguori, R.13
Carroccia, R.14
Montagna, P.15
Rugolo, M.16
Torroni, A.17
Carelli, V.18
-
48
-
-
0037406049
-
Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction
-
Carelli V., Giordano C., and d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 19 (2003) 257-262
-
(2003)
Trends Genet.
, vol.19
, pp. 257-262
-
-
Carelli, V.1
Giordano, C.2
d'Amati, G.3
-
49
-
-
0025820109
-
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
-
Bu X.D., and Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 8198-8202
-
(1991)
Proc. Natl. Acad. Sci. U. S. A.
, vol.88
, pp. 8198-8202
-
-
Bu, X.D.1
Rotter, J.I.2
-
50
-
-
28144454984
-
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
-
Hudson G., Keers S., Yu W.M.P., Griffiths P., Huoponen K., Savontaus M.L., Nikoskelainen E., Zeviani M., Carrara F., Horvath R., Karcagi V., Spruijt L., de Coo I.F., Smeets H.J., and Chinnery P.F. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am. J. Hum. Genet. 77 (2005) 1086-1091
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 1086-1091
-
-
Hudson, G.1
Keers, S.2
Yu, W.M.P.3
Griffiths, P.4
Huoponen, K.5
Savontaus, M.L.6
Nikoskelainen, E.7
Zeviani, M.8
Carrara, F.9
Horvath, R.10
Karcagi, V.11
Spruijt, L.12
de Coo, I.F.13
Smeets, H.J.14
Chinnery, P.F.15
-
51
-
-
41149109085
-
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
-
Shankar S.P., Fingert J.H., Carelli V., Valentino M.L., King T.M., Daiger S.P., Salomao S.R., Berezovsky A., Belfort Jr. R., Braun T.A., Sheffield V.C., Sadun A.A., and Stone E.M. Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet. 29 (2008) 17-24
-
(2008)
Ophthalmic Genet.
, vol.29
, pp. 17-24
-
-
Shankar, S.P.1
Fingert, J.H.2
Carelli, V.3
Valentino, M.L.4
King, T.M.5
Daiger, S.P.6
Salomao, S.R.7
Berezovsky, A.8
Belfort Jr., R.9
Braun, T.A.10
Sheffield, V.C.11
Sadun, A.A.12
Stone, E.M.13
-
52
-
-
37548999745
-
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
-
Hudson G., Carelli V., Horvath R., Zeviani M., Smeets H.J., and Chinnery P.F. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Mol. Vis. 13 (2007) 2339-2343
-
(2007)
Mol. Vis.
, vol.13
, pp. 2339-2343
-
-
Hudson, G.1
Carelli, V.2
Horvath, R.3
Zeviani, M.4
Smeets, H.J.5
Chinnery, P.F.6
-
53
-
-
0042850443
-
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
-
Sadun A.A., Carelli V., Salomao S.R., Berezovsky A., Quiros P.A., Sadun F., DeNegri A.M., Andrade R., Moraes M., Passos A., Kjaer P., Pereira J., Valentino M.L., Schein S., and Belfort R. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am. J. Ophthalmol. 136 (2003) 231-238
-
(2003)
Am. J. Ophthalmol.
, vol.136
, pp. 231-238
-
-
Sadun, A.A.1
Carelli, V.2
Salomao, S.R.3
Berezovsky, A.4
Quiros, P.A.5
Sadun, F.6
DeNegri, A.M.7
Andrade, R.8
Moraes, M.9
Passos, A.10
Kjaer, P.11
Pereira, J.12
Valentino, M.L.13
Schein, S.14
Belfort, R.15
-
54
-
-
33846018053
-
Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
-
Carelli V., Franceschini F., Venturi S., Barboni P., Savini G., Barbieri G., Pirro E., La Morgia C., Valentino M.L., Zanardi F., Violante F.S., and Mattioli S. Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?. Environ. Health Perspect. 115 (2007) 113-115
-
(2007)
Environ. Health Perspect.
, vol.115
, pp. 113-115
-
-
Carelli, V.1
Franceschini, F.2
Venturi, S.3
Barboni, P.4
Savini, G.5
Barbieri, G.6
Pirro, E.7
La Morgia, C.8
Valentino, M.L.9
Zanardi, F.10
Violante, F.S.11
Mattioli, S.12
-
55
-
-
0037423202
-
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
-
Ghelli A., Zanna C., Porcelli A.M., Schapira A.H., Martinuzzi A., Carelli V., and Rugolo M. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J. Biol. Chem. 278 (2003) 4145-4150
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 4145-4150
-
-
Ghelli, A.1
Zanna, C.2
Porcelli, A.M.3
Schapira, A.H.4
Martinuzzi, A.5
Carelli, V.6
Rugolo, M.7
-
56
-
-
24644461049
-
Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and endonuclease G
-
Zanna C., Ghelli A., Porcelli A.M., Martinuzzi A., Carelli V., and Rugolo M. Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and endonuclease G. Apoptosis 10 (2005) 997-1007
-
(2005)
Apoptosis
, vol.10
, pp. 997-1007
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
Martinuzzi, A.4
Carelli, V.5
Rugolo, M.6
-
57
-
-
24044492019
-
Prophylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite
-
Newman N.J., Biousse V., David R., Bhatti M.T., Hamilton S.R., Farris B.K., Lesser R.L., Newman S.A., Turbin R.E., Chen K., and Keaney R.P. Prophylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. Am. J. Ophthalmol. 140 (2005) 407-415
-
(2005)
Am. J. Ophthalmol.
, vol.140
, pp. 407-415
-
-
Newman, N.J.1
Biousse, V.2
David, R.3
Bhatti, M.T.4
Hamilton, S.R.5
Farris, B.K.6
Lesser, R.L.7
Newman, S.A.8
Turbin, R.E.9
Chen, K.10
Keaney, R.P.11
-
58
-
-
0036369531
-
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease
-
Delettre C., Lenaers G., Pelloquin L., Belenguer P., and Hamel C.P. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol. Genet. Metab. 75 (2002) 97-107
-
(2002)
Mol. Genet. Metab.
, vol.75
, pp. 97-107
-
-
Delettre, C.1
Lenaers, G.2
Pelloquin, L.3
Belenguer, P.4
Hamel, C.P.5
-
59
-
-
53649086828
-
The natural history of OPA1-related autosomal dominant optic atrophy
-
Cohn A.C., Toomes C., Hewitt A.W., Kearns L.S., Inglehearn C.F., Craig J.E., and Mackey D.A. The natural history of OPA1-related autosomal dominant optic atrophy. Br. J. Ophthalmol. 92 (2008) 1333-1336
-
(2008)
Br. J. Ophthalmol.
, vol.92
, pp. 1333-1336
-
-
Cohn, A.C.1
Toomes, C.2
Hewitt, A.W.3
Kearns, L.S.4
Inglehearn, C.F.5
Craig, J.E.6
Mackey, D.A.7
-
60
-
-
0037235396
-
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
-
Votruba M., Thiselton D., and Bhattacharya S.S. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br. J. Ophthalmol. 87 (2003) 48-53
-
(2003)
Br. J. Ophthalmol.
, vol.87
, pp. 48-53
-
-
Votruba, M.1
Thiselton, D.2
Bhattacharya, S.S.3
-
61
-
-
33947360806
-
Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations
-
Cohn A.C., Toomes C., Potter C., Towns K.V., Hewitt A.W., Inglehearn C.F., Craig J.E., and Mackey D.A. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am. J. Ophthalmol. 143 (2007) 656-662
-
(2007)
Am. J. Ophthalmol.
, vol.143
, pp. 656-662
-
-
Cohn, A.C.1
Toomes, C.2
Potter, C.3
Towns, K.V.4
Hewitt, A.W.5
Inglehearn, C.F.6
Craig, J.E.7
Mackey, D.A.8
-
62
-
-
0020691778
-
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
-
Kjer P., Jensen O.A., and Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. (Copenh) 61 (1983) 300-312
-
(1983)
Acta Ophthalmol. (Copenh)
, vol.61
, pp. 300-312
-
-
Kjer, P.1
Jensen, O.A.2
Klinken, L.3
-
64
-
-
0033028406
-
Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3
-
Kerrison J.B., Arnould V.J., Ferraz Sallum J.M., Vagefi M.R., Barmada M.M., Li Y., Zhu D., and Maumenee I.H. Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3. Arch. Ophthalmol. 117 (1999) 805-810
-
(1999)
Arch. Ophthalmol.
, vol.117
, pp. 805-810
-
-
Kerrison, J.B.1
Arnould, V.J.2
Ferraz Sallum, J.M.3
Vagefi, M.R.4
Barmada, M.M.5
Li, Y.6
Zhu, D.7
Maumenee, I.H.8
-
65
-
-
26244441704
-
A third locus for dominant optic atrophy on chromosome 22q
-
Barbet F., Hakiki S., Orssaud C., Gerber S., Perrault I., Hanein S., Ducroq D., Dufier J.L., Munnich A., Kaplan J., and Rozet J.M. A third locus for dominant optic atrophy on chromosome 22q. J. Med. Genet. 42 (2005) e1
-
(2005)
J. Med. Genet.
, vol.42
-
-
Barbet, F.1
Hakiki, S.2
Orssaud, C.3
Gerber, S.4
Perrault, I.5
Hanein, S.6
Ducroq, D.7
Dufier, J.L.8
Munnich, A.9
Kaplan, J.10
Rozet, J.M.11
-
66
-
-
27744441594
-
eOPA1: an online database for OPA1 mutations
-
Ferre M., Amati-Bonneau P., Tourmen Y., Malthiery Y., and Reynier P. eOPA1: an online database for OPA1 mutations. Hum. Mutat. 25 (2005) 423-428
-
(2005)
Hum. Mutat.
, vol.25
, pp. 423-428
-
-
Ferre, M.1
Amati-Bonneau, P.2
Tourmen, Y.3
Malthiery, Y.4
Reynier, P.5
-
67
-
-
0742288598
-
The dynamin superfamily: universal membrane tubulation and fission molecules?
-
Praefcke G.J.K., and McMahon H.T. The dynamin superfamily: universal membrane tubulation and fission molecules?. Nat. Rev. 5 (2004) 133-147
-
(2004)
Nat. Rev.
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.K.1
McMahon, H.T.2
-
69
-
-
33745742425
-
Mitochondrial dynamics and disease, OPA1
-
Olichon A., Guillou E., Delettre C., Landes T., Arnauné-Pelloquin L., Emorine L.J., Mils V., Daloyau M., Hamel C., Amati-Bonneau P., Bonneau D., Reynier P., Lenaers G., and Belenguer P. Mitochondrial dynamics and disease, OPA1. Biochim. Biophys. Acta 1763 (2006) 500-509
-
(2006)
Biochim. Biophys. Acta
, vol.1763
, pp. 500-509
-
-
Olichon, A.1
Guillou, E.2
Delettre, C.3
Landes, T.4
Arnauné-Pelloquin, L.5
Emorine, L.J.6
Mils, V.7
Daloyau, M.8
Hamel, C.9
Amati-Bonneau, P.10
Bonneau, D.11
Reynier, P.12
Lenaers, G.13
Belenguer, P.14
-
70
-
-
0037424239
-
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
-
Olichon A., Baricault L., Gas N., Guillou E., Valette A., Belenguer P., and Lenaers G. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J. Biol. Chem. 278 (2003) 7743-7746
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 7743-7746
-
-
Olichon, A.1
Baricault, L.2
Gas, N.3
Guillou, E.4
Valette, A.5
Belenguer, P.6
Lenaers, G.7
-
71
-
-
33745699393
-
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion
-
Frezza C., Cipolat S., Martins de Brito O., Micaroni M., Beznoussenko G.V., Rudka T., Bartoli D., Polishuck R.S., Danial N.N., De Strooper B., and Scorrano L. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 126 (2006) 177-189
-
(2006)
Cell
, vol.126
, pp. 177-189
-
-
Frezza, C.1
Cipolat, S.2
Martins de Brito, O.3
Micaroni, M.4
Beznoussenko, G.V.5
Rudka, T.6
Bartoli, D.7
Polishuck, R.S.8
Danial, N.N.9
De Strooper, B.10
Scorrano, L.11
-
72
-
-
9144238312
-
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
-
Lodi R., Tonon C., Valentino M.L., Iotti S., Clementi V., Malucelli E., Barboni P., Longanesi L., Schimpf S., Wissinger B., Baruzzi A., Barbiroli B., and Carelli V. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann. Neurol. 56 (2004) 719-723
-
(2004)
Ann. Neurol.
, vol.56
, pp. 719-723
-
-
Lodi, R.1
Tonon, C.2
Valentino, M.L.3
Iotti, S.4
Clementi, V.5
Malucelli, E.6
Barboni, P.7
Longanesi, L.8
Schimpf, S.9
Wissinger, B.10
Baruzzi, A.11
Barbiroli, B.12
Carelli, V.13
-
73
-
-
38849190029
-
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion
-
Zanna C., Ghelli A., Porcelli A.M., Karbowski M., Youle R.J., Schimpf S., Wissinger B., Pinti M., Cossarizza A., Vidoni S., Valentino M.L., Rugolo M., and Carelli V. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 131 (2008) 352-367
-
(2008)
Brain
, vol.131
, pp. 352-367
-
-
Zanna, C.1
Ghelli, A.2
Porcelli, A.M.3
Karbowski, M.4
Youle, R.J.5
Schimpf, S.6
Wissinger, B.7
Pinti, M.8
Cossarizza, A.9
Vidoni, S.10
Valentino, M.L.11
Rugolo, M.12
Carelli, V.13
-
74
-
-
46749111893
-
Hereditary optic neuropathies share a common mitochondrial coupling defect
-
Chevrollier A., Guillet V., Loiseau D., Gueguen N., de Crescenzo M.A., Verny C., Ferre M., Dollfus H., Odent S., Milea D., Goizet C., Amati-Bonneau P., Procaccio V., Bonneau D., and Reynier P. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann. Neurol. 63 (2008) 794-798
-
(2008)
Ann. Neurol.
, vol.63
, pp. 794-798
-
-
Chevrollier, A.1
Guillet, V.2
Loiseau, D.3
Gueguen, N.4
de Crescenzo, M.A.5
Verny, C.6
Ferre, M.7
Dollfus, H.8
Odent, S.9
Milea, D.10
Goizet, C.11
Amati-Bonneau, P.12
Procaccio, V.13
Bonneau, D.14
Reynier, P.15
-
75
-
-
0030791665
-
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes
-
Chinnery P.F., Howell N., Lightowlers R.N., and Turnbull D.M. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120 (1997) 1713-1721
-
(1997)
Brain
, vol.120
, pp. 1713-1721
-
-
Chinnery, P.F.1
Howell, N.2
Lightowlers, R.N.3
Turnbull, D.M.4
-
77
-
-
0028566729
-
Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences
-
Cavanagh J.B., and Harding B.N. Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences. Brain 117 (1994) 1357-1376
-
(1994)
Brain
, vol.117
, pp. 1357-1376
-
-
Cavanagh, J.B.1
Harding, B.N.2
-
78
-
-
48249156188
-
Mitochondrial disorders in the nervous system
-
DiMauro S., and Schon E.A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 31 (2008) 91-123
-
(2008)
Annu. Rev. Neurosci.
, vol.31
, pp. 91-123
-
-
DiMauro, S.1
Schon, E.A.2
-
79
-
-
0028342847
-
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
-
Jun A.S., Brown M.D., and Wallace D.C. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc. Natl. Acad. Sci. U. S. A. 91 (1994) 6206-6210
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, pp. 6206-6210
-
-
Jun, A.S.1
Brown, M.D.2
Wallace, D.C.3
-
80
-
-
0033623822
-
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
-
Kirby D.M., Kahler S.G., Freckmann M.-L., Reddihough D., and Thorburn D.R. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann. Neurol. 48 (2000) 102-104
-
(2000)
Ann. Neurol.
, vol.48
, pp. 102-104
-
-
Kirby, D.M.1
Kahler, S.G.2
Freckmann, M.-L.3
Reddihough, D.4
Thorburn, D.R.5
-
81
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli F.M., Tanji K., Kulikova R., Shanske S., Vilarinho L., Hays A.P., and DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem. Biophys. Res. Commun. 238 (1997) 326-328
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
Tanji, K.2
Kulikova, R.3
Shanske, S.4
Vilarinho, L.5
Hays, A.P.6
DiMauro, S.7
-
82
-
-
0035112764
-
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
-
Corona P., Antozzi C., Carrara F., D'Incerti L., Lamantea E., Tiranti V., and Zeviani M. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann. Neurol. 49 (2001) 106-110
-
(2001)
Ann. Neurol.
, vol.49
, pp. 106-110
-
-
Corona, P.1
Antozzi, C.2
Carrara, F.3
D'Incerti, L.4
Lamantea, E.5
Tiranti, V.6
Zeviani, M.7
-
83
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
Funalot B., Reynier P., Vighetto A., Ranoux D., Bonnefont J.P., Godinot C., Malthiery Y., and Mas J.L. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann. Neurol. 52 (2002) 374-377
-
(2002)
Ann. Neurol.
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
Ranoux, D.4
Bonnefont, J.P.5
Godinot, C.6
Malthiery, Y.7
Mas, J.L.8
-
84
-
-
0001476920
-
Clinical picture of LHON
-
Nikoskelainen E.K. Clinical picture of LHON. Clin. Neurosci. 2 (1994) 115-120
-
(1994)
Clin. Neurosci.
, vol.2
, pp. 115-120
-
-
Nikoskelainen, E.K.1
-
85
-
-
0024343409
-
Vascular involvement in mitochondrial myopathy
-
Sakuta R., and Nonaka I. Vascular involvement in mitochondrial myopathy. Ann. Neurol. 25 (1989) 594-601
-
(1989)
Ann. Neurol.
, vol.25
, pp. 594-601
-
-
Sakuta, R.1
Nonaka, I.2
-
86
-
-
0025825012
-
Strongly succinate dehydrogenase reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Hasegawa H., Matsuoka T., Goto Y., and Nonaka I. Strongly succinate dehydrogenase reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann. Neurol. 29 (1991) 601-605
-
(1991)
Ann. Neurol.
, vol.29
, pp. 601-605
-
-
Hasegawa, H.1
Matsuoka, T.2
Goto, Y.3
Nonaka, I.4
-
87
-
-
54049142098
-
Friedreich ataxia
-
Pandolfo M. Friedreich ataxia. Arch. Neurol. 65 (2008) 1296-1303
-
(2008)
Arch. Neurol.
, vol.65
, pp. 1296-1303
-
-
Pandolfo, M.1
-
88
-
-
13344270899
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Moltò M.D., Pianese L., Cossée M., Cavalcanti F., Monros E., Rodius F., Duclos F., Monticelli A., Zara F., Cañizares J., Koutnikova H., Bidichandani S.I., Gellera C., Brice A., Trouillas P., De Michele G., Filla A., De Frutos R., Palau F., Patel P.I., Di Donato S., Mandel J.L., Cocozza S., Koenig M., and Pandolfo M. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271 (1996) 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Cañizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
89
-
-
0344820730
-
Friedreich's ataxia: point mutations and clinical presentation of compound Heterozygotes
-
Cossée M., Dürr A., Schmitt M., Dahl N., Trouillas P., Allinson P., Kostrzewa M., Nivelon Chevallier A., Gustavson K.H., Kohlschütter A., Müller U., Mandel J.L., Brice A., Koenig M., Cavalcanti F., Tammaro A., De Michele G., Filla A., Cocozza S., Labuda M., Montermini L., Poirier J., and Pandolfo M. Friedreich's ataxia: point mutations and clinical presentation of compound Heterozygotes. Ann. Neurol. 45 (1999) 200-206
-
(1999)
Ann. Neurol.
, vol.45
, pp. 200-206
-
-
Cossée, M.1
Dürr, A.2
Schmitt, M.3
Dahl, N.4
Trouillas, P.5
Allinson, P.6
Kostrzewa, M.7
Nivelon Chevallier, A.8
Gustavson, K.H.9
Kohlschütter, A.10
Müller, U.11
Mandel, J.L.12
Brice, A.13
Koenig, M.14
Cavalcanti, F.15
Tammaro, A.16
De Michele, G.17
Filla, A.18
Cocozza, S.19
Labuda, M.20
Montermini, L.21
Poirier, J.22
Pandolfo, M.23
more..
-
90
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rötig A., de Lonlay P., Chretien D., Foury F., Koenig M., Sidi D., Munnich A., and Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat. Genet. 17 (1997) 215-217
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rötig, A.1
de Lonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
91
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
-
Lodi R., Cooper J.M., Bradley J.L., Manners D., Styles P., Taylor D.J., and Schapira A.H. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 11492-11495
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 11492-11495
-
-
Lodi, R.1
Cooper, J.M.2
Bradley, J.L.3
Manners, D.4
Styles, P.5
Taylor, D.J.6
Schapira, A.H.7
-
92
-
-
0018956881
-
The incidence and nature of visual pathway involvement in Friedreich's ataxia, a clinical and visual evoked potential study of 22 patients
-
Carroll W.M., Kriss A., Baraitser M., Barrett G., and Halliday A.M. The incidence and nature of visual pathway involvement in Friedreich's ataxia, a clinical and visual evoked potential study of 22 patients. Brain 103 (1980) 413-434
-
(1980)
Brain
, vol.103
, pp. 413-434
-
-
Carroll, W.M.1
Kriss, A.2
Baraitser, M.3
Barrett, G.4
Halliday, A.M.5
-
93
-
-
84975519745
-
Visual loss and recovery in a patient with Friedreich ataxia
-
Givre S.J., Wall M., and Kardon R.H. Visual loss and recovery in a patient with Friedreich ataxia. J. Neuro-Ophthalmol. 20 (2000) 229-233
-
(2000)
J. Neuro-Ophthalmol.
, vol.20
, pp. 229-233
-
-
Givre, S.J.1
Wall, M.2
Kardon, R.H.3
-
94
-
-
33846978441
-
Catastrophic visual loss in a patient with Friedreich ataxia
-
Porter N., Downes S.M., Fratter C., Anslow P., and Nemeth A.H. Catastrophic visual loss in a patient with Friedreich ataxia. Arch. Ophthalmol. 125 (2007) 273-274
-
(2007)
Arch. Ophthalmol.
, vol.125
, pp. 273-274
-
-
Porter, N.1
Downes, S.M.2
Fratter, C.3
Anslow, P.4
Nemeth, A.H.5
-
95
-
-
0002923628
-
Sex-linked deafness of a possibly new type
-
Mohr J., and Mageroy K. Sex-linked deafness of a possibly new type. Acta Genet. Stat. Med. 10 (1960) 54-62
-
(1960)
Acta Genet. Stat. Med.
, vol.10
, pp. 54-62
-
-
Mohr, J.1
Mageroy, K.2
-
96
-
-
0028935319
-
A new X linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22
-
Tranebjaerg L., Schwartz C., Eriksen H., Andreasson S., Ponjavic V., Dahl A., Stevenson R.E., May M., Arena F., Barker D., et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures and mental deficiency is linked to Xq22. J. Med. Genet. 32 (1995) 257-263
-
(1995)
J. Med. Genet.
, vol.32
, pp. 257-263
-
-
Tranebjaerg, L.1
Schwartz, C.2
Eriksen, H.3
Andreasson, S.4
Ponjavic, V.5
Dahl, A.6
Stevenson, R.E.7
May, M.8
Arena, F.9
Barker, D.10
-
97
-
-
16044366597
-
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
-
Jin H., May M., Tranebjaerg L., Kendall E., Fontán G., Jackson J., Subramony S.H., Arena F., Lubs H., Smith S., Stevenson R., Schwartz C., and Vetrie D. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat. Genet. 14 (1996) 177-180
-
(1996)
Nat. Genet.
, vol.14
, pp. 177-180
-
-
Jin, H.1
May, M.2
Tranebjaerg, L.3
Kendall, E.4
Fontán, G.5
Jackson, J.6
Subramony, S.H.7
Arena, F.8
Lubs, H.9
Smith, S.10
Stevenson, R.11
Schwartz, C.12
Vetrie, D.13
-
98
-
-
0033514928
-
Human deafness dystonia syndrome is a mitochondrial disease
-
Koehler C.M., Leuenberger D., Merchant S., Renold A., Junne T., and Schatz G. Human deafness dystonia syndrome is a mitochondrial disease. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 2141-2146
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 2141-2146
-
-
Koehler, C.M.1
Leuenberger, D.2
Merchant, S.3
Renold, A.4
Junne, T.5
Schatz, G.6
-
99
-
-
34249873947
-
Translocation of proteins into mitochondria
-
Neupert W., and Herrmann J.M. Translocation of proteins into mitochondria. Annu. Rev. Biochem. 76 (2007) 723-749
-
(2007)
Annu. Rev. Biochem.
, vol.76
, pp. 723-749
-
-
Neupert, W.1
Herrmann, J.M.2
-
100
-
-
1842457707
-
Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene
-
Pizzuti A., Fabbrini G., Salehi L., Vacca L., Inghilleri M., Dallapiccola B., and Berardelli A. Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene. Neurology 62 (2004) 1021-1022
-
(2004)
Neurology
, vol.62
, pp. 1021-1022
-
-
Pizzuti, A.1
Fabbrini, G.2
Salehi, L.3
Vacca, L.4
Inghilleri, M.5
Dallapiccola, B.6
Berardelli, A.7
-
101
-
-
0036501592
-
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
-
Roesch K., Curran S.P., Tranebjaerg L., and Koehler C.M. Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. Hum. Mol. Genet. 11 (2002) 477-486
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 477-486
-
-
Roesch, K.1
Curran, S.P.2
Tranebjaerg, L.3
Koehler, C.M.4
-
102
-
-
0034795004
-
A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
-
Swerdlow R.H., and Wooten G.F. A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome. Ann. Neurol. 50 (2001) 537-540
-
(2001)
Ann. Neurol.
, vol.50
, pp. 537-540
-
-
Swerdlow, R.H.1
Wooten, G.F.2
-
103
-
-
0042767609
-
Clinical and molecular findings in a patient with a novel mutation in the deafness dystonia peptide (DDP1) gene
-
Binder J., Hofmann S., Kreisel S., Wöhrle J.C., Bäzner H., Krauss J.K., Hennerici M.G., and Bauer M.F. Clinical and molecular findings in a patient with a novel mutation in the deafness dystonia peptide (DDP1) gene. Brain 126 (2003) 1814-1820
-
(2003)
Brain
, vol.126
, pp. 1814-1820
-
-
Binder, J.1
Hofmann, S.2
Kreisel, S.3
Wöhrle, J.C.4
Bäzner, H.5
Krauss, J.K.6
Hennerici, M.G.7
Bauer, M.F.8
-
106
-
-
55549094109
-
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
-
Salinas S., Proukakis C., Crosby A., and Warner T.T. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 7 (2008) 1127-1138
-
(2008)
Lancet Neurol.
, vol.7
, pp. 1127-1138
-
-
Salinas, S.1
Proukakis, C.2
Crosby, A.3
Warner, T.T.4
-
107
-
-
0036984851
-
Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review
-
Makhoul J., Cordonnier M., and Van Nechel C. Optic neuropathy in Strumpell-Lorrain disease: presentation of a clinical case and literature review. Bull. Soc. Belge. Ophtalmol. 286 (2002) 9-14
-
(2002)
Bull. Soc. Belge. Ophtalmol.
, vol.286
, pp. 9-14
-
-
Makhoul, J.1
Cordonnier, M.2
Van Nechel, C.3
-
108
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen J.J., Dürr A., Cournu-Rebeix I., Georgopoulos C., Ang D., Nielsen M.N., Davoine C.S., Brice A., Fontaine B., Gregersen N., and Bross P. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70 (2002) 1328-1332
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
Dürr, A.2
Cournu-Rebeix, I.3
Georgopoulos, C.4
Ang, D.5
Nielsen, M.N.6
Davoine, C.S.7
Brice, A.8
Fontaine, B.9
Gregersen, N.10
Bross, P.11
-
109
-
-
33746554263
-
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
-
Züchner S., Wang G., Tran-Viet K.N., Nance M.A., Gaskell P.C., Vance J.M., Ashley-Koch A.E., and Pericak-Vance M.A. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79 (2006) 365-369
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 365-369
-
-
Züchner, S.1
Wang, G.2
Tran-Viet, K.N.3
Nance, M.A.4
Gaskell, P.C.5
Vance, J.M.6
Ashley-Koch, A.E.7
Pericak-Vance, M.A.8
-
110
-
-
0344736798
-
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia
-
Atorino L., Silvestri L., Koppen M., Cassina L., Ballabio A., Marconi R., Langer T., and Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J. Cell. Biol. 163 (2003) 777-787
-
(2003)
J. Cell. Biol.
, vol.163
, pp. 777-787
-
-
Atorino, L.1
Silvestri, L.2
Koppen, M.3
Cassina, L.4
Ballabio, A.5
Marconi, R.6
Langer, T.7
Casari, G.8
-
111
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F., Quattrini A., Pirozzi M., Valsecchi V., Dina G., Broccoli V., Auricchio A., Piemonte F., Tozzi G., Gaeta L., Casari G., Ballabio A., and Rugarli E.I. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J. Clin. Invest. 113 (2004) 231-242
-
(2004)
J. Clin. Invest.
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
Valsecchi, V.4
Dina, G.5
Broccoli, V.6
Auricchio, A.7
Piemonte, F.8
Tozzi, G.9
Gaeta, L.10
Casari, G.11
Ballabio, A.12
Rugarli, E.I.13
-
112
-
-
33744970020
-
Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia
-
Rugarli E.I., and Langer T. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol. Med. 12 (2006) 262-269
-
(2006)
Trends Mol. Med.
, vol.12
, pp. 262-269
-
-
Rugarli, E.I.1
Langer, T.2
-
113
-
-
33746299692
-
Regulation of mitochondrial morphology through proteolytic cleavage of OPA1
-
Ishihara N., Fujita Y., Oka T., and Mihara K. Regulation of mitochondrial morphology through proteolytic cleavage of OPA1. EMBO J. 25 (2006) 2966-2977
-
(2006)
EMBO J.
, vol.25
, pp. 2966-2977
-
-
Ishihara, N.1
Fujita, Y.2
Oka, T.3
Mihara, K.4
-
114
-
-
34548349869
-
OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria
-
Duvezin-Caubet S., Koppen M., Wagener J., Zick M., Israel L., Bernacchia A., Jagasia R., Rugarli E.I., Imhof A., Neupert W., Langer T., and Reichert A.S. OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria. Mol. Biol. Cell. 18 (2007) 3582-3590
-
(2007)
Mol. Biol. Cell.
, vol.18
, pp. 3582-3590
-
-
Duvezin-Caubet, S.1
Koppen, M.2
Wagener, J.3
Zick, M.4
Israel, L.5
Bernacchia, A.6
Jagasia, R.7
Rugarli, E.I.8
Imhof, A.9
Neupert, W.10
Langer, T.11
Reichert, A.S.12
-
115
-
-
43049117153
-
Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential
-
Guillery O., Malka F., Landes T., Guillou E., Blackstone C., Lombès A., Belenguer P., Arnoult D., and Rojo M. Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential. Biol. Cell. 100 (2008) 315-325
-
(2008)
Biol. Cell.
, vol.100
, pp. 315-325
-
-
Guillery, O.1
Malka, F.2
Landes, T.3
Guillou, E.4
Blackstone, C.5
Lombès, A.6
Belenguer, P.7
Arnoult, D.8
Rojo, M.9
-
116
-
-
34247525092
-
A lethal defect of mitochondrial and peroxisomal fission
-
Waterham H.R., Koster J., van Roermund C.W., Mooyer P.A., Wanders R.J., and Leonard J.V. A lethal defect of mitochondrial and peroxisomal fission. N. Engl. J. Med. 356 (2007) 1736-1741
-
(2007)
N. Engl. J. Med.
, vol.356
, pp. 1736-1741
-
-
Waterham, H.R.1
Koster, J.2
van Roermund, C.W.3
Mooyer, P.A.4
Wanders, R.J.5
Leonard, J.V.6
-
117
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA Deletions
-
Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA Deletions. Nat. Genet. 28 (2001) 211-212
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
118
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
-
Longley M.J., Clark S., Yu Wai Man C., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., and Chinnery P.F. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am. J. Hum. Genet. 78 (2006) 1026-1034
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Yu Wai Man, C.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
-
119
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink J.N., Li F.Y., Tiranti V., Nikali K., Yuan Q.P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., and Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 28 (2001) 223-231
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
120
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J., Juselius J.K., Tiranti V., Kyttälä A., Zeviani M., Comi G.P., Keränen S., Peltonen L., and Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289 (2000) 782-785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttälä, A.4
Zeviani, M.5
Comi, G.P.6
Keränen, S.7
Peltonen, L.8
Suomalainen, A.9
-
121
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I., Spinazzola A., and Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
122
-
-
33749001168
-
Mitochondrial DNA polymerase-gamma and human disease
-
Hudson G., and Chinnery P.F. Mitochondrial DNA polymerase-gamma and human disease. Hum. Mol. Genet. 15 Spec No 2 (2006) R244-R252
-
(2006)
Hum. Mol. Genet.
, vol.15
, Issue.Spec No 2
-
-
Hudson, G.1
Chinnery, P.F.2
-
123
-
-
23644432014
-
Thymidine phosphorylase mutations cause instability of mitochondrial DNA
-
Hirano M., Lagier-Tourenne C., Valentino M.L., Martí R., and Nishigaki Y. Thymidine phosphorylase mutations cause instability of mitochondrial DNA. Gene 354 (2005) 152-156
-
(2005)
Gene
, vol.354
, pp. 152-156
-
-
Hirano, M.1
Lagier-Tourenne, C.2
Valentino, M.L.3
Martí, R.4
Nishigaki, Y.5
-
124
-
-
0021223404
-
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome
-
Treft R.L., Sanborn G.E., Carey J., Swartz M., Crisp D., Wester D.C., and Creel D. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Ophthalmology 91 (1984) 908-915
-
(1984)
Ophthalmology
, vol.91
, pp. 908-915
-
-
Treft, R.L.1
Sanborn, G.E.2
Carey, J.3
Swartz, M.4
Crisp, D.5
Wester, D.C.6
Creel, D.7
-
125
-
-
0021920508
-
Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO)
-
Meire F., De Laey J.J., de Bie S., van Staey M., and Matton M.T. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic. Paediatr. Genet. 5 (1985) 91-97
-
(1985)
Ophthalmic. Paediatr. Genet.
, vol.5
, pp. 91-97
-
-
Meire, F.1
De Laey, J.J.2
de Bie, S.3
van Staey, M.4
Matton, M.T.5
-
126
-
-
7544246760
-
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1
-
Payne M., Yang Z., Katz B.J., Warner J.E., Weight C.J., Zhao Y., Pearson E.D., Treft R.L., Hillman T., Kennedy R.J., Meire F.M., and Zhang K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am. J. Ophthalmol. 138 (2004) 749-755
-
(2004)
Am. J. Ophthalmol.
, vol.138
, pp. 749-755
-
-
Payne, M.1
Yang, Z.2
Katz, B.J.3
Warner, J.E.4
Weight, C.J.5
Zhao, Y.6
Pearson, E.D.7
Treft, R.L.8
Hillman, T.9
Kennedy, R.J.10
Meire, F.M.11
Zhang, K.12
-
127
-
-
38849092044
-
OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape
-
Zeviani M. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain 131 (2008) 314-317
-
(2008)
Brain
, vol.131
, pp. 314-317
-
-
Zeviani, M.1
-
128
-
-
58149214318
-
OPA1 in multiple mitochondrial DNA deletion disorders
-
Stewart J.D., Hudson G., Yu-Wai-Man P., Blakeley E.L., He L., Horvath R., Maddison P., Wright A., Griffiths P.G., Turnbull D.M., Taylor R.W., and Chinnery P.F. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 71 (2008) 1829-1831
-
(2008)
Neurology
, vol.71
, pp. 1829-1831
-
-
Stewart, J.D.1
Hudson, G.2
Yu-Wai-Man, P.3
Blakeley, E.L.4
He, L.5
Horvath, R.6
Maddison, P.7
Wright, A.8
Griffiths, P.G.9
Turnbull, D.M.10
Taylor, R.W.11
Chinnery, P.F.12
-
129
-
-
38349073477
-
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease
-
Harrower T., Stewart J.D., Hudson G., Houlden H., Warner G., O'Donovan D.G., Findlay L.J., Taylor R.W., De Silva R., and Chinnery P.F. POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Arch. Neurol. 65 (2008) 133-136
-
(2008)
Arch. Neurol.
, vol.65
, pp. 133-136
-
-
Harrower, T.1
Stewart, J.D.2
Hudson, G.3
Houlden, H.4
Warner, G.5
O'Donovan, D.G.6
Findlay, L.J.7
Taylor, R.W.8
De Silva, R.9
Chinnery, P.F.10
-
130
-
-
34247638936
-
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
-
Loiseau D., Chevrollier A., Verny C., Guillet V., Gueguen N., Pou de Crescenzo M.A., Ferré M., Malinge M.C., Guichet A., Nicolas G., Amati-Bonneau P., Malthièry Y., Bonneau D., and Reynier P. Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann. Neurol. 61 (2007) 315-323
-
(2007)
Ann. Neurol.
, vol.61
, pp. 315-323
-
-
Loiseau, D.1
Chevrollier, A.2
Verny, C.3
Guillet, V.4
Gueguen, N.5
Pou de Crescenzo, M.A.6
Ferré, M.7
Malinge, M.C.8
Guichet, A.9
Nicolas, G.10
Amati-Bonneau, P.11
Malthièry, Y.12
Bonneau, D.13
Reynier, P.14
-
131
-
-
42749094176
-
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations
-
Amiott E.A., Lott P., Soto J., Kang P.B., McCaffery J.M., DiMauro S., Abel E.D., Flanigan K.M., Lawson V.H., and Shaw J.M. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. Exp. Neurol. 211 (2008) 115-127
-
(2008)
Exp. Neurol.
, vol.211
, pp. 115-127
-
-
Amiott, E.A.1
Lott, P.2
Soto, J.3
Kang, P.B.4
McCaffery, J.M.5
DiMauro, S.6
Abel, E.D.7
Flanigan, K.M.8
Lawson, V.H.9
Shaw, J.M.10
-
132
-
-
33846224191
-
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
-
Baloh R.H., Schmidt R.E., Pestronk A., and Milbrandt J. Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations. J. Neurosci. 27 (2007) 422-430
-
(2007)
J. Neurosci.
, vol.27
, pp. 422-430
-
-
Baloh, R.H.1
Schmidt, R.E.2
Pestronk, A.3
Milbrandt, J.4
-
133
-
-
0036375019
-
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings
-
Kleta R., Skovby F., Christensen E., Rosenberg T., Gahl W.A., and Anikster Y. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Mol. Genet. Metab. 76 (2002) 201-206
-
(2002)
Mol. Genet. Metab.
, vol.76
, pp. 201-206
-
-
Kleta, R.1
Skovby, F.2
Christensen, E.3
Rosenberg, T.4
Gahl, W.A.5
Anikster, Y.6
-
134
-
-
38849112595
-
A missense mutation in the murine Opa3 gene models human Costeff syndrome
-
Davies V.J., Powell K.A., White K.E., Yip W., Hogan V., Hollins A.J., Davies J.R., Piechota M., Brownstein D.G., Moat S.J., Nichols P.P., Wride M.A., Boulton M.E., and Votruba M. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131 (2008) 368-380
-
(2008)
Brain
, vol.131
, pp. 368-380
-
-
Davies, V.J.1
Powell, K.A.2
White, K.E.3
Yip, W.4
Hogan, V.5
Hollins, A.J.6
Davies, J.R.7
Piechota, M.8
Brownstein, D.G.9
Moat, S.J.10
Nichols, P.P.11
Wride, M.A.12
Boulton, M.E.13
Votruba, M.14
-
135
-
-
0033840193
-
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene
-
Birch-Machin M.A., Taylor R.W., Cochran B., Ackrell B.A., and Turnbull D.M. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann. Neurol. 48 (2000) 330-335
-
(2000)
Ann. Neurol.
, vol.48
, pp. 330-335
-
-
Birch-Machin, M.A.1
Taylor, R.W.2
Cochran, B.3
Ackrell, B.A.4
Turnbull, D.M.5
-
136
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
-
Bruno C., Martinuzzi A., Tang Y., Andreu A.L., Pallotti F., Bonilla E., Shanske S., Fu J., Sue C.M., Angelini C., DiMauro S., and Manfredi G. A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am. J. Hum. Genet. 65 (1999) 611-620
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 611-620
-
-
Bruno, C.1
Martinuzzi, A.2
Tang, Y.3
Andreu, A.L.4
Pallotti, F.5
Bonilla, E.6
Shanske, S.7
Fu, J.8
Sue, C.M.9
Angelini, C.10
DiMauro, S.11
Manfredi, G.12
-
137
-
-
59049097778
-
Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels
-
Porcelli A.M., Angelin A., Ghelli A., Mariani E., Martinuzzi A., Carelli V., Petronilli V., Bernardi P., and Rugolo M. Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels. J. Biol. Chem. 284 (2009) 2045-2052
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 2045-2052
-
-
Porcelli, A.M.1
Angelin, A.2
Ghelli, A.3
Mariani, E.4
Martinuzzi, A.5
Carelli, V.6
Petronilli, V.7
Bernardi, P.8
Rugolo, M.9
-
138
-
-
45349094984
-
Mitochondrial dynamics and apoptosis
-
Suen D.F., Norris K.L., and Youle R.J. Mitochondrial dynamics and apoptosis. Genes Dev. 22 (2008) 1577-1590
-
(2008)
Genes Dev.
, vol.22
, pp. 1577-1590
-
-
Suen, D.F.1
Norris, K.L.2
Youle, R.J.3
-
139
-
-
0036724369
-
Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation
-
Yen M.Y., Chen C.S., Wang A.G., and Wei Y.H. Increase of mitochondrial DNA in blood cells of patients with Leber's hereditary optic neuropathy with 11778 mutation. Br. J. Ophthalmol. 86 (2002) 1027-1030
-
(2002)
Br. J. Ophthalmol.
, vol.86
, pp. 1027-1030
-
-
Yen, M.Y.1
Chen, C.S.2
Wang, A.G.3
Wei, Y.H.4
-
140
-
-
15244364005
-
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy
-
Kim J.Y., Hwang J.M., Ko H.S., Seong M.W., Park B.J., and Park S.S. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64 (2005) 966-972
-
(2005)
Neurology
, vol.64
, pp. 966-972
-
-
Kim, J.Y.1
Hwang, J.M.2
Ko, H.S.3
Seong, M.W.4
Park, B.J.5
Park, S.S.6
-
141
-
-
33745757783
-
Critical dependence of neurons on mitochondrial dynamics
-
Chen H., and Chan D.C. Critical dependence of neurons on mitochondrial dynamics. Curr. Opin. Cell. Biol. 18 (2006) 453-459
-
(2006)
Curr. Opin. Cell. Biol.
, vol.18
, pp. 453-459
-
-
Chen, H.1
Chan, D.C.2
-
142
-
-
10944269186
-
The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses
-
Li Z., Okamoto K., Hayashi Y., and Sheng M. The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses. Cell 119 (2004) 873-887
-
(2004)
Cell
, vol.119
, pp. 873-887
-
-
Li, Z.1
Okamoto, K.2
Hayashi, Y.3
Sheng, M.4
-
143
-
-
50049118173
-
C.T. Moraes. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype
-
Wenz T., Diaz F., and Spiegelman B.M. C.T. Moraes. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell. Metab. 8 (2008) 249-256
-
(2008)
Cell. Metab.
, vol.8
, pp. 249-256
-
-
Wenz, T.1
Diaz, F.2
Spiegelman, B.M.3
|