-
1
-
-
0033772264
-
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
1 Alexander, C, Votruba, M, Pesch, UE, Thiselton, DL, Mayer, S, Moore, A, et al. 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
-
2
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
2 Delettre, C, Lenaers, G, Griffoin, JM, Gigarel, N, Lorenzo, C, Belenguer, P, et al. 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
-
3
-
-
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
-
3 Anikster, Y, Kleta, R, Shaag, A, Gahl, WA, 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
-
4
-
-
64149102007
-
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy
-
4 Hanein, S, Perrault, I, Roche, O, Gerber, S, Khadom, N, Rio, M, et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet 84 (2009), 493–498.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 493-498
-
-
Hanein, S.1
Perrault, I.2
Roche, O.3
Gerber, S.4
Khadom, N.5
Rio, M.6
-
5
-
-
84964194272
-
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy
-
5 Metodiev, MD, Gerber, S, Hubert, L, Delahodde, A, Chretien, D, Gérard, X, et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet 51 (2014), 834–838.
-
(2014)
J Med Genet
, vol.51
, pp. 834-838
-
-
Metodiev, M.D.1
Gerber, S.2
Hubert, L.3
Delahodde, A.4
Chretien, D.5
Gérard, X.6
-
6
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
6 Inoue, H, Tanizawa, Y, Wasson, J, Behn, P, Kalidas, K, Bernal-Mizrachi, E, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20 (1998), 143–148.
-
(1998)
Nat Genet
, vol.20
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernal-Mizrachi, E.6
-
7
-
-
84926984692
-
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders
-
7 Chaussenot, A, Rouzier, C, Quere, M, Plutino, M, Ait-El-Mkadem, S, Bannwarth, S, et al. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders. Clin Genet 87 (2015), 430–439.
-
(2015)
Clin Genet
, vol.87
, pp. 430-439
-
-
Chaussenot, A.1
Rouzier, C.2
Quere, M.3
Plutino, M.4
Ait-El-Mkadem, S.5
Bannwarth, S.6
-
8
-
-
84947924596
-
Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies
-
8 Angebault, C, Guichet, PO, Talmat-Amar, Y, Charif, M, Gerber, S, Fares-Taie, L, et al. Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Am J Hum Genet 97 (2015), 754–760.
-
(2015)
Am J Hum Genet
, vol.97
, pp. 754-760
-
-
Angebault, C.1
Guichet, P.O.2
Talmat-Amar, Y.3
Charif, M.4
Gerber, S.5
Fares-Taie, L.6
-
9
-
-
78651480831
-
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
-
9 Elachouri, G, Vidoni, S, Zanna, C, Pattyn, A, Boukhaddaoui, H, Gaget, K, et al. OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res 21 (2011), 12–20.
-
(2011)
Genome Res
, vol.21
, pp. 12-20
-
-
Elachouri, G.1
Vidoni, S.2
Zanna, C.3
Pattyn, A.4
Boukhaddaoui, H.5
Gaget, K.6
-
10
-
-
33745699393
-
OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion
-
10 Frezza, C, Cipolat, S, Martins de Brito, O, Micaroni, M, Beznoussenko, GV, Rudka, T, et al. 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
-
11
-
-
8644270474
-
OPA1 requires mitofusin 1 to promote mitochondrial fusion
-
11 Cipolat, S, Martins de Brito, O, Dal Zilio, B, Scorrano, L, OPA1 requires mitofusin 1 to promote mitochondrial fusion. Proc Natl Acad Sci USA 101 (2004), 15927–15932.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 15927-15932
-
-
Cipolat, S.1
Martins de Brito, O.2
Dal Zilio, B.3
Scorrano, L.4
-
12
-
-
0036676330
-
Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease
-
12 Marchbank, NJ, Craig, JE, Leek, JP, Toohey, M, Churchill, AJ, Markham, AF, et al. Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet, 39, 2002, e47.
-
(2002)
J Med Genet
, vol.39
, pp. e47
-
-
Marchbank, N.J.1
Craig, J.E.2
Leek, J.P.3
Toohey, M.4
Churchill, A.J.5
Markham, A.F.6
-
13
-
-
77955473981
-
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
-
46, 1546.e1
-
13 Yu-Wai-Man, P, Griffiths, PG, Burke, A, Sellar, PW, Clarke, MP, Gnanaraj, L, et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology, 117, 2010, 1538 46, 1546.e1.
-
(2010)
Ophthalmology
, vol.117
, pp. 1538
-
-
Yu-Wai-Man, P.1
Griffiths, P.G.2
Burke, A.3
Sellar, P.W.4
Clarke, M.P.5
Gnanaraj, L.6
-
14
-
-
84905053922
-
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
-
14 Bonifert, T, Karle, KN, Tonagel, F, Batra, M, Wilhelm, C, Theurer, Y, et al. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain 137:Pt 8 (2014), 2164–2177.
-
(2014)
Brain
, vol.137
, pp. 2164-2177
-
-
Bonifert, T.1
Karle, K.N.2
Tonagel, F.3
Batra, M.4
Wilhelm, C.5
Theurer, Y.6
-
15
-
-
84947608741
-
Oligonucleotide therapeutics: chemistry, delivery and clinical progress
-
15 Sharma, VK, Watts, JK, Oligonucleotide therapeutics: chemistry, delivery and clinical progress. Future Med Chem 7 (2015), 2221–2242.
-
(2015)
Future Med Chem
, vol.7
, pp. 2221-2242
-
-
Sharma, V.K.1
Watts, J.K.2
-
16
-
-
0029821897
-
Inhibition of human cytomegalovirus immediate-early gene expression by an antisense oligonucleotide complementary to immediate-early RNA
-
16 Anderson, KP, Fox, MC, Brown-Driver, V, Martin, MJ, Azad, RF, Inhibition of human cytomegalovirus immediate-early gene expression by an antisense oligonucleotide complementary to immediate-early RNA. Antimicrob Agents Chemother 40 (1996), 2004–2011.
-
(1996)
Antimicrob Agents Chemother
, vol.40
, pp. 2004-2011
-
-
Anderson, K.P.1
Fox, M.C.2
Brown-Driver, V.3
Martin, M.J.4
Azad, R.F.5
-
17
-
-
20544474017
-
An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis
-
17 Crooke, RM, Graham, MJ, Lemonidis, KM, Whipple, CP, Koo, S, Perera, RJ, An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis. J Lipid Res 46 (2005), 872–884.
-
(2005)
J Lipid Res
, vol.46
, pp. 872-884
-
-
Crooke, R.M.1
Graham, M.J.2
Lemonidis, K.M.3
Whipple, C.P.4
Koo, S.5
Perera, R.J.6
-
18
-
-
84907991204
-
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
-
18 Voit, T, Topaloglu, H, Straub, V, Muntoni, F, Deconinck, N, Campion, G, et al. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurol 13 (2014), 987–996.
-
(2014)
Lancet Neurol
, vol.13
, pp. 987-996
-
-
Voit, T.1
Topaloglu, H.2
Straub, V.3
Muntoni, F.4
Deconinck, N.5
Campion, G.6
-
19
-
-
84958106352
-
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy
-
19 Mendell, JR, Goemans, N, Lowes, LP, Alfano, LN, Berry, K, Shao, J, et al., Eteplirsen Study Group and Telethon Foundation DMD Italian Network, Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy. Ann Neurol 79 (2016), 257–271.
-
(2016)
Ann Neurol
, vol.79
, pp. 257-271
-
-
Mendell, J.R.1
Goemans, N.2
Lowes, L.P.3
Alfano, L.N.4
Berry, K.5
Shao, J.6
Eteplirsen Study Group and Telethon Foundation DMD Italian Network7
-
20
-
-
84867129125
-
Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290
-
20 Collin, RW, den Hollander, AI, van der Velde-Visser, SD, Bennicelli, J, Bennett, J, Cremers, FP, Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290. Mol Ther Nucleic Acids, 1, 2012, e14.
-
(2012)
Mol Ther Nucleic Acids
, vol.1
, pp. e14
-
-
Collin, R.W.1
den Hollander, A.I.2
van der Velde-Visser, S.D.3
Bennicelli, J.4
Bennett, J.5
Cremers, F.P.6
-
21
-
-
84868356058
-
AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation
-
21 Gerard, X, Perrault, I, Hanein, S, Silva, E, Bigot, K, Defoort-Delhemmes, S, et al. AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation. Mol Ther Nucleic Acids, 1, 2012, e29.
-
(2012)
Mol Ther Nucleic Acids
, vol.1
, pp. e29
-
-
Gerard, X.1
Perrault, I.2
Hanein, S.3
Silva, E.4
Bigot, K.5
Defoort-Delhemmes, S.6
-
22
-
-
0023221876
-
Pharmacokinetic stochastic model with Weibull-distributed residence times of drug molecules in the body
-
22 Piotrovskii, VK, Pharmacokinetic stochastic model with Weibull-distributed residence times of drug molecules in the body. Eur J Clin Pharmacol 32 (1987), 515–523.
-
(1987)
Eur J Clin Pharmacol
, vol.32
, pp. 515-523
-
-
Piotrovskii, V.K.1
-
23
-
-
79951821796
-
Antisense inhibition of survivin expression as a cancer therapeutic
-
23 Carrasco, RA, Stamm, NB, Marcusson, E, Sandusky, G, Iversen, P, Patel, BK, Antisense inhibition of survivin expression as a cancer therapeutic. Mol Cancer Ther 10 (2011), 221–232.
-
(2011)
Mol Cancer Ther
, vol.10
, pp. 221-232
-
-
Carrasco, R.A.1
Stamm, N.B.2
Marcusson, E.3
Sandusky, G.4
Iversen, P.5
Patel, B.K.6
-
24
-
-
30844436415
-
Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites
-
24 Aartsma-Rus, A, De Winter, CL, Janson, AA, Kaman, WE, Van Ommen, GJ, Den Dunnen, JT, et al. Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sites. Oligonucleotides 15 (2005), 284–297.
-
(2005)
Oligonucleotides
, vol.15
, pp. 284-297
-
-
Aartsma-Rus, A.1
De Winter, C.L.2
Janson, A.A.3
Kaman, W.E.4
Van Ommen, G.J.5
Den Dunnen, J.T.6
-
25
-
-
32044445564
-
Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
-
25 Singh, NK, Singh, NN, Androphy, EJ, Singh, RN, Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 26 (2006), 1333–1346.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 1333-1346
-
-
Singh, N.K.1
Singh, N.N.2
Androphy, E.J.3
Singh, R.N.4
-
26
-
-
84871822017
-
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
-
26 Bassi, E, Falzarano, S, Fabris, M, Gualandi, F, Merlini, L, Vattemi, G, et al. Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol, 2012, 2012, 897076.
-
(2012)
J Biomed Biotechnol
, vol.2012
, pp. 897076
-
-
Bassi, E.1
Falzarano, S.2
Fabris, M.3
Gualandi, F.4
Merlini, L.5
Vattemi, G.6
-
27
-
-
84940834150
-
Intravitreal injection of splice-switching oligonucleotides to manipulate splicing in retinal cells
-
27 Gérard, X, Perrault, I, Munnich, A, Kaplan, J, Rozet, JM, Intravitreal injection of splice-switching oligonucleotides to manipulate splicing in retinal cells. Mol Ther Nucleic Acids, 4, 2015, e250.
-
(2015)
Mol Ther Nucleic Acids
, vol.4
, pp. e250
-
-
Gérard, X.1
Perrault, I.2
Munnich, A.3
Kaplan, J.4
Rozet, J.M.5
-
28
-
-
85024100691
-
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery
-
epub ahead of print
-
28 Garanto, A, Chung, DC, Duijkers, L, Corral-Serrano, JC, Messchaert, M, Xiao, R, et al. In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery. Hum Mol Genet, 2016 epub ahead of print.
-
(2016)
Hum Mol Genet
-
-
Garanto, A.1
Chung, D.C.2
Duijkers, L.3
Corral-Serrano, J.C.4
Messchaert, M.5
Xiao, R.6
-
29
-
-
84926220418
-
Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions
-
29 Singh, NN, Lee, BM, Singh, RN, Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions. Ann NY Acad Sci 1341 (2015), 176–187.
-
(2015)
Ann NY Acad Sci
, vol.1341
, pp. 176-187
-
-
Singh, N.N.1
Lee, B.M.2
Singh, R.N.3
-
30
-
-
85015632943
-
Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain
-
30 Zalachoras, I, Evers, MM, van Roon-Mom, WM, Aartsma-Rus, AM, Meijer, OC, Antisense-mediated RNA targeting: versatile and expedient genetic manipulation in the brain. Front Mol Neurosci, 4, 2011, 10.
-
(2011)
Front Mol Neurosci
, vol.4
, pp. 10
-
-
Zalachoras, I.1
Evers, M.M.2
van Roon-Mom, W.M.3
Aartsma-Rus, A.M.4
Meijer, O.C.5
-
31
-
-
84892377709
-
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis
-
31 Garanto, A, van Beersum, SE, Peters, TA, Roepman, R, Cremers, FP, Collin, RW, Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. PLoS One, 8, 2013, e79369.
-
(2013)
PLoS One
, vol.8
, pp. e79369
-
-
Garanto, A.1
van Beersum, S.E.2
Peters, T.A.3
Roepman, R.4
Cremers, F.P.5
Collin, R.W.6
-
32
-
-
61649127296
-
Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms
-
32 Aartsma-Rus, A, van Vliet, L, Hirschi, M, Janson, AA, Heemskerk, H, de Winter, CL, et al. Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms. Mol Ther 17 (2009), 548–553.
-
(2009)
Mol Ther
, vol.17
, pp. 548-553
-
-
Aartsma-Rus, A.1
van Vliet, L.2
Hirschi, M.3
Janson, A.A.4
Heemskerk, H.5
de Winter, C.L.6
-
33
-
-
0042121256
-
Mfold web server for nucleic acid folding and hybridization prediction
-
33 Zuker, M, Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res 31 (2003), 3406–3415.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3406-3415
-
-
Zuker, M.1
-
34
-
-
0043123153
-
Vienna RNA secondary structure server
-
34 Hofacker, IL, Vienna RNA secondary structure server. Nucleic Acids Res 31 (2003), 3429–3431.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3429-3431
-
-
Hofacker, I.L.1
-
35
-
-
66249120367
-
Human splicing finder: an online bioinformatics tool to predict splicing signals
-
35 Desmet, FO, Hamroun, D, Lalande, M, Collod-Béroud, G, Claustres, M, Béroud, C, Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res, 37, 2009, e67.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. e67
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Béroud, G.4
Claustres, M.5
Béroud, C.6
-
36
-
-
62349130698
-
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
-
36 Langmead, B, Trapnell, C, Pop, M, Salzberg, SL, Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol, 10, 2009, R25.
-
(2009)
Genome Biol
, vol.10
, pp. R25
-
-
Langmead, B.1
Trapnell, C.2
Pop, M.3
Salzberg, S.L.4
-
37
-
-
84929494345
-
CCTop: an intuitive, flexible and reliable CRISPR/Cas9 target prediction tool
-
37 Stemmer, M, Thumberger, T, Del Sol Keyer, M, Wittbrodt, J, Mateo, JL, CCTop: an intuitive, flexible and reliable CRISPR/Cas9 target prediction tool. PLoS One, 10, 2015, e0124633.
-
(2015)
PLoS One
, vol.10
, pp. e0124633
-
-
Stemmer, M.1
Thumberger, T.2
Del Sol Keyer, M.3
Wittbrodt, J.4
Mateo, J.L.5
-
38
-
-
4644227797
-
Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells
-
38 Aartsma-Rus, A, Kaman, WE, Bremmer-Bout, M, Janson, AA, den Dunnen, JT, van Ommen, GJ, et al. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells. Gene Ther 11 (2004), 1391–1398.
-
(2004)
Gene Ther
, vol.11
, pp. 1391-1398
-
-
Aartsma-Rus, A.1
Kaman, W.E.2
Bremmer-Bout, M.3
Janson, A.A.4
den Dunnen, J.T.5
van Ommen, G.J.6
|