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Results: 1 to 20 of 107

1.

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.

Sitarz KS, Almind GJ, Horvath R, Czermin B, Grønskov K, Pyle A, Taylor RW, Larsen M, Chinnery PF, Yu-Wai-Man P.

Neurology. 2012 Oct 2;79(14):1515-7. doi: 10.1212/WNL.0b013e31826d5f60. Epub 2012 Sep 19. No abstract available.

PMID:
22993284
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy.

Kim JY, Hwang JM, Ko HS, Seong MW, Park BJ, Park SS.

Neurology. 2005 Mar 22;64(6):966-72.

PMID:
15781809
[PubMed - indexed for MEDLINE]
3.

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

Lodi R, Tonon C, Valentino ML, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V.

Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13.

PMID:
20837821
[PubMed - indexed for MEDLINE]
4.

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy.

Hamahata T, Fujimaki T, Fujiki K, Miyazaki A, Mizota A, Murakami A.

Jpn J Ophthalmol. 2012 Jan;56(1):91-7. doi: 10.1007/s10384-011-0096-1. Epub 2011 Nov 1.

PMID:
22042570
[PubMed - indexed for MEDLINE]
5.

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Pierron D, Ferré M, Rocher C, Chevrollier A, Murail P, Thoraval D, Amati-Bonneau P, Reynier P, Letellier T.

BMC Med Genet. 2009 Jul 20;10:70. doi: 10.1186/1471-2350-10-70.

PMID:
19619285
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ.

Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30.

PMID:
21036400
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.

Yu-Wai-Man P, Davies VJ, Piechota MJ, Cree LM, Votruba M, Chinnery PF.

Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4561-6. doi: 10.1167/iovs.09-3634. Epub 2009 May 14.

PMID:
19443720
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, 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 MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.

Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.

PMID:
18158317
[PubMed - indexed for MEDLINE]
Free Article
9.

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF.

Ophthalmology. 2010 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038. Epub 2010 Apr 24.

PMID:
20417570
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Almind GJ, Grønskov K, Milea D, Larsen M, Brøndum-Nielsen K, Ek J.

BMC Med Genet. 2011 Apr 4;12:49. doi: 10.1186/1471-2350-12-49.

PMID:
21457585
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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 Jr, 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. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.

PMID:
20157015
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

Barboni P, Valentino ML, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M, Carelli V.

Brain. 2013 Feb;136(Pt 2):e231. doi: 10.1093/brain/aws280. Epub 2013 Feb 6. No abstract available.

PMID:
23388408
[PubMed - indexed for MEDLINE]
Free Article
13.

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.

Yu-Wai-Man P, Bailie M, Atawan A, Chinnery PF, Griffiths PG.

Eye (Lond). 2011 May;25(5):596-602. doi: 10.1038/eye.2011.2. Epub 2011 Mar 4.

PMID:
21378995
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.

Brain. 2007 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.

PMID:
17314202
[PubMed - indexed for MEDLINE]
Free Article
15.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P.

Hum Mutat. 2003 Jun;21(6):656.

PMID:
14961560
[PubMed - indexed for MEDLINE]
16.

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. doi: 10.1016/j.ophtha.2009.07.019. Epub 2009 Dec 6.

PMID:
19969356
[PubMed - indexed for MEDLINE]
17.

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 EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7.

PMID:
18065439
[PubMed - indexed for MEDLINE]
Free Article
18.

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

Han J, Thompson-Lowrey AJ, Reiss A, Mayorov V, Jia H, Biousse V, Newman NJ, Brown MD.

Genet Med. 2006 Apr;8(4):217-25.

PMID:
16617242
[PubMed - indexed for MEDLINE]
19.

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 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14. No abstract available.

PMID:
21917770
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Hereditary optic atrophies].

Scherer C, Procaccio V, Ferre M, Guillet V, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C.

Rev Neurol (Paris). 2010 Dec;166(12):959-65. doi: 10.1016/j.neurol.2010.07.033. Epub 2010 Nov 5. Review. French.

PMID:
21056443
[PubMed - indexed for MEDLINE]

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