-
1
-
-
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., 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.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
-
2
-
-
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., Boissiere 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., Martin 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
Boissiere, 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
Martin, M.A.28
Arenas, J.29
Ayuso, C.30
Garesse, R.31
Lenaers, G.32
Bonneau, D.33
Carelli, V.34
more..
-
3
-
-
44849143066
-
Reversible optic neuropathy with OPA1 exon 5b mutation
-
Cornille K., Milea D., Amati-Bonneau P., Procaccio V., Zazoun L., Guillet V., El Achouri G., Delettre C., Gueguen N., Loiseau D., Muller A., Ferre M., Chevrollier A., Wallace D.C., Bonneau D., Hamel C., Reynier P., and Lenaers G. Reversible optic neuropathy with OPA1 exon 5b mutation. Ann. Neurol. 63 (2008) 667-671
-
(2008)
Ann. Neurol.
, vol.63
, pp. 667-671
-
-
Cornille, K.1
Milea, D.2
Amati-Bonneau, P.3
Procaccio, V.4
Zazoun, L.5
Guillet, V.6
El Achouri, G.7
Delettre, C.8
Gueguen, N.9
Loiseau, D.10
Muller, A.11
Ferre, M.12
Chevrollier, A.13
Wallace, D.C.14
Bonneau, D.15
Hamel, C.16
Reynier, P.17
Lenaers, G.18
-
4
-
-
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
-
5
-
-
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
-
6
-
-
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
-
7
-
-
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
-
8
-
-
0036268633
-
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
-
Thiselton D.L., Alexander C., Taanman J.W., Brooks S., Rosenberg T., Eiberg H., Andreasson S., Van Regemorter N., Munier F.L., Moore A.T., Bhattacharya S.S., and Votruba M. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest. Ophthalmol. Vis. Sci. 43 (2002) 1715-1724
-
(2002)
Invest. Ophthalmol. Vis. Sci.
, vol.43
, pp. 1715-1724
-
-
Thiselton, D.L.1
Alexander, C.2
Taanman, J.W.3
Brooks, S.4
Rosenberg, T.5
Eiberg, H.6
Andreasson, S.7
Van Regemorter, N.8
Munier, F.L.9
Moore, A.T.10
Bhattacharya, S.S.11
Votruba, M.12
-
9
-
-
0031915967
-
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy
-
Votruba M., Fitzke F.W., Holder G.E., Carter A., Bhattacharya S.S., and Moore A.T. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch. Ophthalmol. 116 (1998) 351-358
-
(1998)
Arch. Ophthalmol.
, vol.116
, pp. 351-358
-
-
Votruba, M.1
Fitzke, F.W.2
Holder, G.E.3
Carter, A.4
Bhattacharya, S.S.5
Moore, A.T.6
-
10
-
-
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
|