-
1
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
C. Alexander, M. Votruba, U.E. Pesch, D.L. Thiselton, S. Mayer, and A. Moore OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat Genet 26 2 2000 211 215
-
(2000)
Nat Genet
, vol.26
, Issue.2
, pp. 211-215
-
-
Alexander, C.1
Votruba, M.2
Pesch, U.E.3
Thiselton, D.L.4
Mayer, S.5
Moore, A.6
-
2
-
-
0037230231
-
The OPA1 and optic neuropathy
-
W.L.M. Alward The OPA1 and optic neuropathy Br J Ophtalmol 87 2003 2 3
-
(2003)
Br J Ophtalmol
, vol.87
, pp. 2-3
-
-
Alward, W.L.M.1
-
3
-
-
0344873191
-
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
-
DOI 10.1016/S0002-9394(03)00665-2
-
P. Amati-Bonneau, S. Odent, C. Derrien, L. Pasquier, Y. Malthiery, and P. Reynier The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene Am J Ophthalmol 136 6 2003 1170 1171 (Pubitemid 37485793)
-
(2003)
American Journal of Ophthalmology
, vol.136
, Issue.6
, pp. 1170-1171
-
-
Amati-Bonneau, P.1
Odent, S.2
Derrien, C.3
Pasquier, L.4
Malthiery, Y.5
Reynier, P.6
Bonneau, D.7
-
4
-
-
28544431607
-
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness
-
DOI 10.1002/ana.20681
-
Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, et al. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.Ann Neurol 2005;58(6):958-63. (Pubitemid 41746888)
-
(2005)
Annals of Neurology
, vol.58
, Issue.6
, pp. 958-963
-
-
Amati-Bonneau, P.1
Guichet, A.2
Olichon, A.3
Chevrollier, A.4
Viala, F.5
Miot, S.6
Ayuso, C.7
Odent, S.8
Arrouet, C.9
Verny, C.10
Calmels, M.-N.11
Simard, G.12
Belenguer, P.13
Wang, J.14
Puel, J.-L.15
Hamel, C.16
Malthiery, Y.17
Bonneau, D.18
Lenaers, G.19
Reynier, P.20
more..
-
5
-
-
38849192448
-
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes
-
DOI 10.1093/brain/awm298
-
P. Amati-Bonneau, M.L. Valentino, P. Reynier, M.E. Gallardo, B. Bornstein, and A. Boissire OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes Brain 131 Pt2 2008 338 351 (Pubitemid 351197609)
-
(2008)
Brain
, vol.131
, Issue.2
, 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..
-
6
-
-
35348939526
-
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2
-
DOI 10.1086/520961
-
S. Amr, C. Heisey, M. Zhang, X.J. Xia, K.H. Shows, and K. Ajlouni A homozygous mutation in a novel zinc-finger protein. ERIS, is responsible for Wolfram syndrome 2 Am J Hum Genet 81 4 2007 673 683 [Epub 2007 Aug 20] (Pubitemid 47596537)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.4
, pp. 673-683
-
-
Amr, S.1
Heisey, C.2
Zhang, M.3
Xia, X.-J.4
Shows, K.H.5
Ajlouni, K.6
Pandya, A.7
Satin, L.S.8
El-Shanti, H.9
Shiang, R.10
-
7
-
-
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
-
DOI 10.1086/324651
-
Y. Anikster, R. Kleta, A. Shaag, W.A. Gahl, and O. Elpeleg 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 (Pubitemid 33124203)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.6
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, R.2
Shaag, A.3
Gahl, W.A.4
Elpeleg, O.5
-
8
-
-
0030826278
-
A gene for X-linked optic atrophy is closely linked to the Xp11.4- Xp11.2 Region of the X chromosome
-
J.J. Assink, N.T. Tijmes, J.B. ten Brink, R.J. Oostra, F.C. Riemslag, and P.T. de Jong A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome Am J Hum Genet 61 4 1997 934 939 (Pubitemid 27418470)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 934-939
-
-
Assink, J.J.M.1
Tijmes, N.T.2
Ten Brink, J.B.3
Oostra, R.-J.4
Riemslag, F.C.5
De Jong, P.T.V.M.6
Bergen, A.A.B.7
-
9
-
-
0346025678
-
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q
-
DOI 10.1038/sj.ejhg.5201070
-
F. Barbet, S. Gerber, S. Hakiki, I. Perrault, S. Hanein, and D. Ducroq A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q Eur J Hum Genet 11 12 2003 966 971 (Pubitemid 38072164)
-
(2003)
European Journal of Human Genetics
, vol.11
, Issue.12
, pp. 966-971
-
-
Barbet, F.1
Gerber, S.2
Hakiki, S.3
Perrault, I.4
Hanein, S.5
Ducroq, D.6
Tanguy, G.7
Dufier, J.-L.8
Munnich, A.9
Rozet, J.-M.10
Kaplan, J.11
-
10
-
-
26244441704
-
A third locus for dominant optic atrophy on chromosome 22q
-
F. Barbet, S. Hakiki, C. Orssaud, S. Gerber, I. Perrault, and S. Hanein A third locus for dominant optic atrophy on chromosome 22q J Med Genet 42 1 2005 e1
-
(2005)
J Med Genet
, vol.42
, Issue.1
, pp. 1
-
-
Barbet, F.1
Hakiki, S.2
Orssaud, C.3
Gerber, S.4
Perrault, I.5
Hanein, S.6
-
11
-
-
0001482616
-
Die komplizierte, hereditär-familäre Optikusatrophie des Kindesalters: Ein bisher nicht beschriebener Symptomkomplex
-
C. Behr Die komplizierte, hereditär-familäre Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomkomplex Klinische Monatsbl Augenheilk 47 1909 138 160
-
(1909)
Klinische Monatsbl Augenheilk
, vol.47
, pp. 138-160
-
-
Behr, C.1
-
13
-
-
46749111893
-
Hereditary optic neuropathies share a common mitochondrial coupling defect
-
DOI 10.1002/ana.21385
-
A. Chevrollier, V. Guillet, D. Loiseau, N. Gueguen, M.A. Pou de Crescenzo, and C. Verny Hereditary optic neuropathies share a common mitochondrial coupling defect Ann Neurol 63 2008 794 798 (Pubitemid 351945539)
-
(2008)
Annals of Neurology
, vol.63
, Issue.6
, pp. 794-798
-
-
Chevrollier, A.1
Guillet, V.2
Loiseau, D.3
Gueguen, N.4
De Crescenzo, M.-A.P.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
-
14
-
-
0035931511
-
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
-
DOI 10.1002/1096-8628(20010122)98:3<235::AID-AJMG1086>3.0.CO;2-O
-
P.F. Chinnery, R.M. Andrews, D.M. Turnbull, and N.N. Howell Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 98 3 2001 235 243 (Pubitemid 32118987)
-
(2001)
American Journal of Medical Genetics
, vol.98
, Issue.3
, pp. 235-243
-
-
Chinnery, P.F.1
Andrews, R.M.2
Turnbull, D.M.3
Howell, N.4
-
15
-
-
0024582283
-
A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia
-
H. Costeff, N. Gadoth, N. Apter, M. Prialnic, and H. Savir A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia Neurology 39 1989 595 597 (Pubitemid 19105784)
-
(1989)
Neurology
, vol.39
, Issue.4
, pp. 595-597
-
-
Costeff, H.1
Gadoth, N.2
Apter, N.3
Prialnic, M.4
Savir, H.5
-
16
-
-
44849143066
-
Reversible optic neuropathy with OPA1 exon 5b mutation
-
K. Cornille, D. Milea, P. Amati-Bonneau, V. Procaccio, L. Zazoun, and V. Guillet Reversible optic neuropathy with OPA1 exon 5b mutation Ann Neurol 63 5 2008 667 671
-
(2008)
Ann Neurol
, vol.63
, Issue.5
, pp. 667-671
-
-
Cornille, K.1
Milea, D.2
Amati-Bonneau, P.3
Procaccio, V.4
Zazoun, L.5
Guillet, V.6
-
17
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
C. Delettre, G. Lenaers, J.M. Griffoin, N. Gigarel, C. Lorenzo, and P. Belenguer Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat Genet 26 2 2000 207 210
-
(2000)
Nat Genet
, vol.26
, Issue.2
, pp. 207-210
-
-
Delettre, C.1
Lenaers, G.2
Griffoin, J.M.3
Gigarel, N.4
Lorenzo, C.5
Belenguer, P.6
-
18
-
-
0028264428
-
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
-
H. Eiberg, B. Kjer, P. Kjer, and T. Rosenberg Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis Hum Mol Genet 3 6 1994 977 980
-
(1994)
Hum Mol Genet
, vol.3
, Issue.6
, pp. 977-980
-
-
Eiberg, H.1
Kjer, B.2
Kjer, P.3
Rosenberg, T.4
-
19
-
-
0033942396
-
Homozygosity mapping identifies additional locus for Wolfram syndrome on chromosome 4q
-
DOI 10.1086/302858
-
H. El-Shanti, A.C. Lidral, N. Jarrah, L. Druhan, and K. Ajlouni Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q Am J Hum Genet 66 2000 1229 1236 (Pubitemid 30468780)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.4
, pp. 1229-1236
-
-
El-Shanti, H.1
Lidral, A.C.2
Jarrah, N.3
Druhan, L.4
Ajlouni, K.5
-
20
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
DOI 10.1002/ana.10299
-
B. Funalot, P. Reynier, A. Vighetto, D. Ranoux, J.P. Bonnefont, and C. Godinot Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy Ann Neurol 52 3 2002 374 377 (Pubitemid 35001509)
-
(2002)
Annals of Neurology
, vol.52
, Issue.3
, 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
-
21
-
-
0942279746
-
Variable Clinical Manifestation of Homoplasmic G14459A Mitochondrial DNA Mutation
-
A. Gropman, T.J. Chen, C.L. Perng, D. Krasnewich, E. Chernoff, and C. Tifft Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation Am J Med Genet A 124A 2004 377 382 (Pubitemid 38141379)
-
(2004)
American Journal of Medical Genetics
, vol.124 A
, Issue.4
, pp. 377-382
-
-
Gropman, A.1
Chen, T.-J.2
Perng, C.-L.3
Krasnewich, D.4
Chernoff, E.5
Tifft, C.6
Wong, L.-J.C.7
-
22
-
-
64149102007
-
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive non syndromic optic atrophy
-
S. Hanein, I. Perrault, O. Roche, S. Gerber, N. Khadom, and M. Rio TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive non syndromic optic atrophy Am J Hum Genet 84 4 2009 493 498
-
(2009)
Am J Hum Genet
, vol.84
, Issue.4
, pp. 493-498
-
-
Hanein, S.1
Perrault, I.2
Roche, O.3
Gerber, S.4
Khadom, N.5
Rio, M.6
-
23
-
-
0029064615
-
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation
-
A.E. Harding, M.G. Sweeney, G.G. Govan, and P. Riordan-Eva Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation Am J Hum Genet 57 1 1995 77 86
-
(1995)
Am J Hum Genet
, vol.57
, Issue.1
, pp. 77-86
-
-
Harding, A.E.1
Sweeney, M.G.2
Govan, G.G.3
Riordan-Eva, P.4
-
24
-
-
0018889212
-
Autosomal dominant optic atrophy. A spectrum of disability
-
C.S. Hoyt Autosomal dominant optic atrophy. A spectrum of disability Ophthalmology 87 3 1980 245 251 (Pubitemid 10130594)
-
(1980)
Ophthalmology
, vol.87
, Issue.3
, pp. 245-251
-
-
Hoyt, C.S.1
-
25
-
-
38849151612
-
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance
-
DOI 10.1093/brain/awm272
-
G. Hudson, P. Amati-Bonneau, E.L. Blakely, J.D. Stewart, L. He, and A.M. Schaefer 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 Pt 2 2008 329 337 [Epub 2007 Dec 7] (Pubitemid 351197604)
-
(2008)
Brain
, vol.131
, Issue.2
, 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
-
26
-
-
0025910614
-
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
-
K. Huoponen, J. Vilkki, P. Aula, E.K. Nikoskelainen, and M.L. Savontaus A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy Am J Hum Genet 48 1991 1147 1153
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1147-1153
-
-
Huoponen, K.1
Vilkki, J.2
Aula, P.3
Nikoskelainen, E.K.4
Savontaus, M.L.5
-
27
-
-
0035404936
-
Leber hereditary optic neuropathy: Clinical and molecular genetic findings
-
DOI 10.1007/s100480100115
-
K. Huoponen Leber hereditary optic neuropathy: clinical and molecular genetic findings Neurogenetics 3 3 2001 119 125 (Pubitemid 33739050)
-
(2001)
Neurogenetics
, vol.3
, Issue.3
, pp. 119-125
-
-
Huoponen, K.1
-
28
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
DOI 10.1038/2441
-
H. Inoue, Y. Tanizawa, J. Wasson, P. Behn, K. Kalidas, and E. Bernal-Mizrachi A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat Genet 20 2 1998 143 148 (Pubitemid 28455446)
-
(1998)
Nature Genetics
, vol.20
, Issue.2
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernal-Mizrachi, E.6
Mueckler, M.7
Marshall, H.8
Donis-Keller, H.9
Crock, P.10
Rogers, D.11
Mikuni, M.12
Kumashiro, H.13
Higashi, K.14
Sobue, G.15
Oka, Y.16
Alan Permutt, M.17
-
29
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
D.R. Johns, M.J. Neufeld, and R.D. Park An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy Biochem Biophys Res Commun 187 1992 1551 1557
-
(1992)
Biochem Biophys Res Commun
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
Neufeld, M.J.2
Park, R.D.3
-
30
-
-
0027195652
-
Leber's hereditary optic neuropathy: Clinical manifestations of the 15257 mutation
-
D.R. Johns, K.H. Smith, P.J. Savino, and N.R. Miller Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation Ophthalmology 100 7 1993 981 986 (Pubitemid 23199360)
-
(1993)
Ophthalmology
, vol.100
, Issue.7
, pp. 981-986
-
-
Johns, D.R.1
Smith, K.H.2
Savino, P.J.3
Miller, N.R.4
-
31
-
-
0027502505
-
Leber's hereditary optic neuropathy: Clinical manifestations of the 14484 mutation
-
D.R. Johns, K.L. Heher, N.R. Miller, and K.H. Smith Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation Arch Ophthalmol 111 4 1993 495 498 (Pubitemid 23116895)
-
(1993)
Archives of Ophthalmology
, vol.111
, Issue.4
, pp. 495-498
-
-
Johns, D.R.1
Heber, K.L.2
Miller, N.R.3
Smith, K.H.4
-
32
-
-
0018727407
-
A clinicopathologic study of autosomal dominant optic atrophy
-
P.B. Johnston, R.N. Gaster, V.C. Smith, and R.C. Tripathi A clinicopathologic study of autosomal dominant optic atrophy Am J Ophthalmol 88 5 1979 868 875 (Pubitemid 10236334)
-
(1979)
American Journal of Ophthalmology
, vol.88
, Issue.5
, pp. 868-875
-
-
Johnston, P.B.1
Gaster, R.N.2
Smith, V.C.3
Tripathi, R.C.4
-
33
-
-
0031964691
-
Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12
-
DOI 10.1016/S0002-9394(99)80236-0
-
J.B. Kerrison, R.K. Koenekoop, V.J. Arnould, D. Zee, and I.H. Maumenee Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12 Am J Ophthalmol 125 1 1998 64 70 (Pubitemid 28049035)
-
(1998)
American Journal of Ophthalmology
, vol.125
, Issue.1
, pp. 64-70
-
-
Kerrison, J.B.1
Koenekoop, R.K.2
Arnould, V.J.3
Zee, D.4
Maumenee, I.H.5
-
34
-
-
70949090567
-
Gene-environment interactions in Leber hereditary optic neuropathy
-
M.A. Kirkman, P. Yu-Wai-Man, A. Korsten, M. Leonhardt, K. Dimitriadis, and I.F. De Coo Gene-environment interactions in Leber hereditary optic neuropathy Brain 132 2009 2317 2326
-
(2009)
Brain
, vol.132
, pp. 2317-2326
-
-
Kirkman, M.A.1
Yu-Wai-Man, P.2
Korsten, A.3
Leonhardt, M.4
Dimitriadis, K.5
De Coo, I.F.6
-
35
-
-
84924064715
-
Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
-
P. Kjer Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families Acta Ophthalmol Suppl 164 Suppl. 54 1959 1 147
-
(1959)
Acta Ophthalmol Suppl
, vol.164
, Issue.SUPPL. 54
, pp. 1-147
-
-
Kjer, P.1
-
36
-
-
0020691778
-
Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy
-
P. Kjer, O.A. Jensen, and L. Klinken Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy Acta Ophthalmol (Copenh) 61 2 1983 300 312 (Pubitemid 13137064)
-
(1983)
Acta Ophthalmologica
, vol.61
, Issue.2
, pp. 300-312
-
-
Kjer, P.1
Jensen, O.A.2
Klinken, L.3
-
37
-
-
0018397542
-
Dominant optic atrophy. The clinical profile
-
L.B. Kline, and J.S. Glaser Dominant optic atrophy. The clinical profile Arch ophtalmol 97 1979 1680 1686 (Pubitemid 9231550)
-
(1979)
Archives of Ophthalmology
, vol.97
, Issue.9
, pp. 1680-1686
-
-
Kline, L.B.1
Glaser, J.S.2
-
38
-
-
0015953302
-
Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family
-
B.W. Konigsmark, D.L. Knox, I.E. Hussels, and H. Moses Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family Arch Ophthalmol 91 2 1974 99 103
-
(1974)
Arch Ophthalmol
, vol.91
, Issue.2
, pp. 99-103
-
-
Konigsmark, B.W.1
Knox, D.L.2
Hussels, I.E.3
Moses, H.4
-
39
-
-
34447600937
-
Ueber hereditäre und congenital-angelegte Sehnervenleiden
-
T. Leber Ueber hereditäre und congenital-angelegte Sehnervenleiden Graefes Arch Ophthalmol 17 2 1871 249 291
-
(1871)
Graefes Arch Ophthalmol
, vol.17
, Issue.2
, pp. 249-291
-
-
Leber, T.1
-
40
-
-
25644432134
-
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
-
DOI 10.1002/ajmg.a.30794
-
C. Li, G. Kosmorsky, K. Zhang, B.J. Katz, J. Ge, and E.I. Traboulsi Optic atrophy and sensoryneural hearing loss in a family caused by an R445H OPA1 mutation Am J Med Genet 138A 2005 208 211 (Pubitemid 41384234)
-
(2005)
American Journal of Medical Genetics
, vol.138 A
, Issue.3
, pp. 208-211
-
-
Li, C.1
Kosmorsky, G.2
Zhang, K.3
Katz, B.J.4
Ge, J.5
Traboulsi, E.I.6
-
41
-
-
38549119549
-
A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation
-
M. Liguori, A. La Russa, I. Manna, V. Andreoli, M. Caracciolo, and P. Spadafora A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation J Neurol 255 2008 127 129
-
(2008)
J Neurol
, vol.255
, pp. 127-129
-
-
Liguori, M.1
La Russa, A.2
Manna, I.3
Andreoli, V.4
Caracciolo, M.5
Spadafora, P.6
-
42
-
-
9144238312
-
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy
-
DOI 10.1002/ana.20278
-
R. Lodi, C. Tonon, M.L. Valentino, S. Totti, V. Clementi, and E. Malucelli Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy Ann Neurol 56 2004 719 723 (Pubitemid 39540754)
-
(2004)
Annals of Neurology
, vol.56
, Issue.5
, 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
-
43
-
-
0027977998
-
Three subgroups of patients from the United Kingdom with Leber hereditary optic
-
D.A. Mackey Three subgroups of patients from the United Kingdom with Leber hereditary optic Neuropathy Eye (Lond) 8 Pt 4 1994 431 436
-
(1994)
Neuropathy Eye (Lond)
, vol.8
, Issue.PART 4
, pp. 431-436
-
-
MacKey, D.A.1
-
45
-
-
0037322524
-
The epidemiology of leber hereditary optic neuropathy in the North East of England
-
DOI 10.1086/346066
-
P.Y. Man, P.G. Griffiths, D.T. Brown, N. Howell, D.M. Turnbull, and P.F. Chinnery The epidemiology of Leber hereditary optic neuropathy in the North East of England Am J Hum Genet 72 2 2003 333 339 (Pubitemid 36194242)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.2
, pp. 333-339
-
-
Man, P.Y.W.1
Griffiths, P.G.2
Brown, D.T.3
Howell, N.4
Turnbull, D.M.5
Chinnery, P.F.6
-
46
-
-
0021920508
-
Dominant optic nerve atrophy with progressive hearing loss andchronic progressive external ophthalmoplegia (CPEO)
-
F. Meire, J.J. De Laey, S. de Bie, M. van Staey, and M.T. Matton Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO) Ophthalmic Paediatr Genet 5 1-2 1985 91 97 (Pubitemid 15144326)
-
(1985)
Ophthalmic Paediatrics and Genetics
, vol.5
, Issue.1-2
, pp. 91-97
-
-
Meire, F.1
De Laey, J.J.2
De Bie, S.3
-
47
-
-
84907112368
-
Probable autosomal dominant optic atrophy with hearing loss
-
M.B. Mets, and E. Mhoon Probable autosomal dominant optic atrophy with hearing loss Ophthalmic Paediatr Genet 5 1-2 1985 85 89 (Pubitemid 15144325)
-
(1985)
Ophthalmic Paediatrics and Genetics
, vol.5
, Issue.1-2
, pp. 85-89
-
-
Mets, M.B.1
Mhoon, E.2
-
48
-
-
77951744590
-
Axonal loss occurs early in dominant optic atrophy
-
Milea D, Sander B, Wegener M, Jensen H, Kjer B, Jorgensen TM, et al. Axonal loss occurs early in dominant optic atrophy. Acta Ophthalmol 2009;88(3):342-6.
-
(2009)
Acta Ophthalmol
, vol.88
, Issue.3
, pp. 342-346
-
-
Milea, D.1
Sander, B.2
Wegener, M.3
Jensen, H.4
Kjer, B.5
Jorgensen, T.M.6
-
49
-
-
0029166941
-
Leber's "plus": Neurological abnormalities in patients with Leber's hereditary optic neuropathy
-
E.K. Nikoskelainen, R.J. Marttila, K. Huoponen, V. Juvonen, T. Lamminen, and P. Sonninen Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy J Neurol Neurosurg Psychiatry 59 2 1995 160 164
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, Issue.2
, pp. 160-164
-
-
Nikoskelainen, E.K.1
Marttila, R.J.2
Huoponen, K.3
Juvonen, V.4
Lamminen, T.5
Sonninen, P.6
-
50
-
-
70349783787
-
Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy
-
J. Palace Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy J Neurol Sci 286 1-2 2009 24 27 [Epub 2009 Oct 1]
-
(2009)
J Neurol Sci
, vol.286
, Issue.12
, pp. 24-27
-
-
Palace, J.1
-
51
-
-
57549087036
-
Leber's optic neuropathy associated with disseminated white matter disease: A case report and review
-
F. Perez, O. Anne, S. Debruxelles, P. Menegon, V. Lambrecq, and D. Lacombe Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clin Neurol Neurosurg 111 1 2009 83 86 [Epub 2008 Oct 9]
-
(2009)
Clin Neurol Neurosurg
, vol.111
, Issue.1
, pp. 83-86
-
-
Perez, F.1
Anne, O.2
Debruxelles, S.3
Menegon, P.4
Lambrecq, V.5
Lacombe, D.6
-
52
-
-
7544246760
-
Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1
-
DOI 10.1016/j.ajo.2004.06.011, PII S0002939404006671
-
M. Payne, Yang, B.J. Katz, J.E. Warner, C.J. Weight, and Y. Zhao Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1 Am J Ophthalmol 138 5 2004 749 755 (Pubitemid 39452922)
-
(2004)
American Journal of Ophthalmology
, vol.138
, Issue.5
, pp. 749-755
-
-
Payne, M.1
Yang, Z.2
Katz, B.J.3
Warner, J.E.A.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
-
53
-
-
21044452375
-
Dominant optic atrophy: Correlation between clinical and molecular genetic studies
-
DOI 10.1111/j.1600-0420.2005.00448.x
-
A. Puomila, K. Huoponen, M. Mäntyjärvi, P. Hämä läinen, R. Paananen, and E.M. Sankila Dominant optic atrophy: correlation between clinical and molecular genetic studies Acta Ophthalmol Scand 83 2005 337 346 (Pubitemid 40872509)
-
(2005)
Acta Ophthalmologica Scandinavica
, vol.83
, Issue.3
, pp. 337-346
-
-
Puomila, A.1
Huoponen, K.2
Mantyjarvi, M.3
Hamalainen, P.4
Paananen, R.5
Sankila, E.-M.6
Savontaus, M.-L.7
Somer, M.8
Nikoskelainen, E.9
-
54
-
-
34848868793
-
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland
-
DOI 10.1038/sj.ejhg.5201828, PII 5201828
-
A. Puomila, P. Hamalainen, S. Kivioja, M.L. Savontaus, S. Koivumaki, and K. Huoponen Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland Eur J Hum Genet 15 10 2007 1079 1089 (Pubitemid 47491463)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.10
, pp. 1079-1089
-
-
Puomila, A.1
Hamalainen, P.2
Kivioja, S.3
Savontaus, M.-L.4
Koivumaki, S.5
Huoponen, K.6
Nikoskelainen, E.7
-
55
-
-
17644401441
-
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
-
P. Reynier, P. Amati-Bonneau, C. Verny, A. Olichon, G. Simard, and A. Guichet OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract J Med Genet 41 9 2004 e110
-
(2004)
J Med Genet
, vol.41
, Issue.9
, pp. 110
-
-
Reynier, P.1
Amati-Bonneau, P.2
Verny, C.3
Olichon, A.4
Simard, G.5
Guichet, A.6
-
56
-
-
33846094306
-
An enhanced Mitomap with a global mtDNA mutational phylogeny
-
E. Ruiz-Pesini, M.T. Lott, V. Procaccio, J.C. Poole, M.C. Brandon, and D. Mishmar An enhanced Mitomap with a global mtDNA mutational phylogeny Nucleic Acid Res 35 2007 D823 D828
-
(2007)
Nucleic Acid Res
, vol.35
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
Poole, J.C.4
Brandon, M.C.5
Mishmar, D.6
-
57
-
-
0037307853
-
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy
-
DOI 10.1016/S0002-9394(02)01929-3
-
S. Shimizu, N. Mori, M. Kishi, H. Sugata, A. Tsuda, and N. Kubota A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy Am J Ophthalmol 135 2 2003 256 257 (Pubitemid 36151819)
-
(2003)
American Journal of Ophthalmology
, vol.135
, Issue.2
, pp. 256-257
-
-
Shimizu, S.1
Mori, N.2
Kishi, M.3
Sugata, H.4
Tsuda, A.5
Kubota, N.6
-
58
-
-
0027485979
-
Heteroplasmy in Leber's hereditary optic neuropathy
-
K.H. Smith, D.R. Johns, K.L. Heher, and N.R. Miller Heteroplasmy in Leber's hereditary optic neuropathy Arch Ophthalmol 111 11 1993 1486 1490 (Pubitemid 23331979)
-
(1993)
Archives of Ophthalmology
, vol.111
, Issue.11
, pp. 1486-1490
-
-
Smith, K.H.1
Johns, D.R.2
Heher, K.L.3
Miller, N.R.4
-
59
-
-
54449084658
-
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
-
M. Spinazzi, S. Cazzola, M. Bortolozzi, A. Baracca, E. Loro, and A. Casarin A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function Hum Mol Genet 17 2008 3291 3302
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3291-3302
-
-
Spinazzi, M.1
Cazzola, S.2
Bortolozzi, M.3
Baracca, A.4
Loro, E.5
Casarin, A.6
-
60
-
-
0030669154
-
Maladie de Leber 'plus': Neuropathie optique, syndrome parkinsonien et ophtalmoplegie supranucleaire
-
S. Thobois, A. Vighetto, M. Grochowicki, C. Godinot, E. Broussolle, and G. Aimard Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia Rev Neurol 153 10 1997 595 598 (Pubitemid 27488137)
-
(1997)
Revue Neurologique
, vol.153
, Issue.10
, pp. 595-598
-
-
Thobois, S.1
Vighetto, A.2
Grochowicki, M.3
Godinot, C.4
Broussolle, E.5
Aimard, G.6
-
61
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
A. Torroni, M. Petrozzi, and L. D'Urbano Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484 Am J Hum Genet 60 1997 1107 1121 (Pubitemid 27194095)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.5
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
De Negri, A.11
Scozzari, R.12
-
62
-
-
17644393817
-
Atrophie optique, cataracte et signes extra-pyramidaux par mutation du gene OPA3
-
C. Verny, P. Amati-Bonneau, F. Dubas, Y. Malthiéry, P. Reynier, and D. Bonneau An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs Rev Neurol (Paris) 161 4 2005 451 454 (Pubitemid 40562416)
-
(2005)
Revue Neurologique
, vol.161
, Issue.4
, pp. 451-454
-
-
Verny, C.1
Amati-Bonneau, P.2
Dubas, F.3
Malthiery, Y.4
Reynier, P.5
Bonneau, D.6
-
63
-
-
41549121478
-
Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy
-
DOI 10.1212/01.wnl.0000289194.89359.a1, PII 0000611420080325100003
-
C. Verny, D. Loiseau, C. Scherer, P. Lejeune, A. Chevrollier, and N. Gueguen Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy Neurology 70 13 Pt 2 2008 1152 1153 (Pubitemid 351464750)
-
(2008)
Neurology
, vol.70
, Issue.PART 2
, pp. 1152-1153
-
-
Verny, C.1
Loiseau, D.2
Scherer, C.3
Lejeune, P.4
Chevrollier, A.5
Gueguen, N.6
Guillet, V.7
Dubas, F.8
Reynier, P.9
Amati-Bonneau, P.10
Bonneau, D.11
-
64
-
-
0016300009
-
A family with sex linked optic atrophy (ophthalmological and neurological aspects)
-
H.J. Volker-Dieben, G.H.M. Van Lith, L.N. Went, J.W. Klawer, A. Staal, and E.C. De Vries-de Mol A family with sex linked optic atrophy (ophthalmological and neurological aspects) Docum Ophthal 37 2 1974 307 326
-
(1974)
Docum Ophthal
, vol.37
, Issue.2
, pp. 307-326
-
-
Volker-Dieben, H.J.1
Van Lith, G.H.M.2
Went, L.N.3
Klawer, J.W.4
Staal, A.5
De Vries-De Mol, E.C.6
-
65
-
-
0031692436
-
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy
-
M. Votruba, A.T. Moore, and S.S. Bhattacharya Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy J Med Genet 35 10 1998 793 800 (Pubitemid 28431696)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.10
, pp. 793-800
-
-
Votruba, M.1
Moore, A.T.2
Bhattacharya, S.S.3
-
66
-
-
0037235396
-
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
-
DOI 10.1136/bjo.87.1.48
-
M. Votruba, D. Thiselton, and S.S. Bhattacharya Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy Br J Ophthalmol 87 1 2003 48 53 (Pubitemid 36071778)
-
(2003)
British Journal of Ophthalmology
, vol.87
, Issue.1
, pp. 48-53
-
-
Votruba, M.1
Thiselton, D.2
Bhattacharya, S.S.3
-
67
-
-
0000804149
-
Diabetes mellitus and simple optic atrophy among siblings: Report of four cases
-
D.J. Wolfram, and H.P. Wagener Diabetes mellitus and simple optic atrophy among siblings: report of four cases Mayo clin Proc 13 1938 715 718
-
(1938)
Mayo Clin Proc
, vol.13
, pp. 715-718
-
-
Wolfram, D.J.1
Wagener, H.P.2
-
68
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
D.C. Wallace, G. Singh, M.T. Lott, J.A. Hodge, T.G. Schurr, A.M. Lezza, L.J. Elsas 2nd, and E.K. Nikoskelainen Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 4884 1988 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
-
69
-
-
38849092044
-
OPA1 mutations and mitochondrial DNA damage: Keeping the magic circle in shape
-
DOI 10.1093/brain/awm339
-
M. Zeviani OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape Brain 131 Pt 2 2008 314 317 (Pubitemid 351197626)
-
(2008)
Brain
, vol.131
, Issue.2
, pp. 314-317
-
-
Zeviani, M.1
-
70
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
DOI 10.1002/ana.20797
-
S. Züchner, P. De Jonghe, A. Jordanova, and K.G. Claeys Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 Ann Neurol 59 2 2006 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
|