128 related articles for article (PubMed ID: 26281626)
1. Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation.
Yu-Wai-Man P; Chinnery PF
Brain; 2011 Nov; 134(Pt 11):e196. PubMed ID: 26281626
[No Abstract] [Full Text] [Related]
2. Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation.
Pretegiani E; Rufa A; Gallus GN; Cardaioli E; Malandrini A; Federico A
Brain; 2011 Nov; 134(Pt 11):e195. PubMed ID: 21646330
[No Abstract] [Full Text] [Related]
3. Reply: Sensorineural hearing loss in OPA1-linked disorders.
Yu-Wai-Man P; Chinnery PF
Brain; 2013 Jul; 136(Pt 7):e237. PubMed ID: 23650221
[No Abstract] [Full Text] [Related]
4. Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.
Yu-Wai-Man P; Chinnery PF
Brain; 2015 Jan; 138(Pt 1):e322. PubMed ID: 25146915
[No Abstract] [Full Text] [Related]
5. Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P; Griffiths PG; Gorman GS; Lourenco CM; Wright AF; Auer-Grumbach M; Toscano A; Musumeci O; Valentino ML; Caporali L; Lamperti C; Tallaksen CM; Duffey P; Miller J; Whittaker RG; Baker MR; Jackson MJ; Clarke MP; Dhillon B; Czermin B; Stewart JD; Hudson G; Reynier P; Bonneau D; Marques W; Lenaers G; McFarland R; Taylor RW; Turnbull DM; Votruba M; Zeviani M; Carelli V; Bindoff LA; Horvath R; Amati-Bonneau P; Chinnery PF
Brain; 2010 Mar; 133(Pt 3):771-86. PubMed ID: 20157015
[TBL] [Abstract][Full Text] [Related]
6. Sensorineural hearing loss in OPA1-linked disorders.
Leruez S; Milea D; Defoort-Dhellemmes S; Colin E; Crochet M; Procaccio V; Ferré M; Lamblin J; Drouin V; Vincent-Delorme C; Lenaers G; Hamel C; Blanchet C; Juul G; Larsen M; Verny C; Reynier P; Amati-Bonneau P; Bonneau D
Brain; 2013 Jul; 136(Pt 7):e236. PubMed ID: 23384603
[No Abstract] [Full Text] [Related]
7. 'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli V; Sabatelli M; Carrozzo R; Rizza T; Schimpf S; Wissinger B; Zanna C; Rugolo M; La Morgia C; Caporali L; Carbonelli M; Barboni P; Tonon C; Lodi R; Bertini E
Brain; 2015 Jan; 138(Pt 1):e321. PubMed ID: 25146916
[No Abstract] [Full Text] [Related]
8. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
Ham M; Han J; Osann K; Smith M; Kimonis V
Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240
[TBL] [Abstract][Full Text] [Related]
9. Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.
Zurita-Díaz F; Galera-Monge T; Moreno-Izquierdo A; Corton M; Ayuso C; Garesse R; Gallardo ME
Stem Cell Res; 2017 Oct; 24():81-84. PubMed ID: 29034899
[TBL] [Abstract][Full Text] [Related]
10. Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.
Baker MR; Fisher KM; Whittaker RG; Griffiths PG; Yu-Wai-Man P; Chinnery PF
Neurology; 2011 Sep; 77(13):1309-12. PubMed ID: 21917770
[No Abstract] [Full Text] [Related]
11. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T; Karle KN; Tonagel F; Batra M; Wilhelm C; Theurer Y; Schoenfeld C; Kluba T; Kamenisch Y; Carelli V; Wolf J; Gonzalez MA; Speziani F; Schüle R; Züchner S; Schöls L; Wissinger B; Synofzik M
Brain; 2014 Aug; 137(Pt 8):2164-77. PubMed ID: 24970096
[TBL] [Abstract][Full Text] [Related]
12. Autosomal dominant optic atrophy with
Maeda-Katahira A; Nakamura N; Hayashi T; Katagiri S; Shimizu S; Ohde H; Matsunaga T; Kaga K; Nakano T; Kameya S; Matsuura T; Fujinami K; Iwata T; Tsunoda K
Mol Vis; 2019; 25():559-573. PubMed ID: 31673222
[TBL] [Abstract][Full Text] [Related]
13. Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.
Magnin E; Allibert R; Berger E; Dollfus H; Rumbach L
Eur Neurol; 2012; 67(5):287. PubMed ID: 22472598
[No Abstract] [Full Text] [Related]
14. [Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].
Ołdak M; Sciezyńska A; Szulborski K; Szaflik JP; Szaflik J
Klin Oczna; 2014; 116(1):52-8. PubMed ID: 25137924
[TBL] [Abstract][Full Text] [Related]
15. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
Amati-Bonneau P; Odent S; Derrien C; Pasquier L; Malthiéry Y; Reynier P; Bonneau D
Am J Ophthalmol; 2003 Dec; 136(6):1170-1. PubMed ID: 14644237
[TBL] [Abstract][Full Text] [Related]
16. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.
Ahmad KE; Davis RL; Sue CM
J Neurol; 2015 Oct; 262(10):2323-8. PubMed ID: 26194196
[TBL] [Abstract][Full Text] [Related]
17. Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A; Rizza T; Doimo M; Legati A; Ciolfi A; Diodato D; Calderan C; Carrara G; Lamantea E; Aiello C; Di Nottia M; Niceta M; Lamperti C; Ardissone A; Bianchi-Marzoli S; Iarossi G; Bertini E; Moroni I; Tartaglia M; Salviati L; Carrozzo R; Ghezzi D
Orphanet J Rare Dis; 2017 May; 12(1):89. PubMed ID: 28494813
[TBL] [Abstract][Full Text] [Related]
18. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR
Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation (LEU396ARG) in OPA1 is associated with a severe phenotype in a large dominant optic atrophy pedigree.
Schnieders MJ; Goar W; Griess M; Roos BR; Scheetz TE; Stone EM; Fingert JH
Eye (Lond); 2018 Apr; 32(4):843-845. PubMed ID: 29350691
[No Abstract] [Full Text] [Related]
20. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.
Yen MY; Wang AG; Lin YC; Fann MJ; Hsiao KJ
Ophthalmology; 2010 Feb; 117(2):392-6.e1. PubMed ID: 19969356
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
