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Results: 1 to 20 of 178

Similar articles for PubMed (Select 22776096)

1.

Dominant optic atrophy.

Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.

Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Review.

2.

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.

3.

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.

4.

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.

5.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.

6.

First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations.

Galvez-Ruiz A, Neuhaus C, Bergmann C, Bolz H.

J Neuroophthalmol. 2013 Dec;33(4):349-53. doi: 10.1097/WNO.0b013e31829ffb9a.

PMID:
24051421
7.

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M.

Hum Genet. 2001 Nov;109(5):498-502. Epub 2001 Oct 3.

PMID:
11735024
8.

Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss?

Williams PA, Morgan JE, Votruba M.

Vision Res. 2011 Jan 28;51(2):229-34. doi: 10.1016/j.visres.2010.08.031. Epub 2010 Aug 27. Review.

9.

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation.

Barboni P, Savini G, Cascavilla ML, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino ML, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Bianchi Marzoli S, Zeviani M, Sadun AA, Bandello F, Carelli V.

Am J Ophthalmol. 2014 Sep;158(3):628-36.e3. doi: 10.1016/j.ajo.2014.05.034. Epub 2014 Jun 5.

PMID:
24907432
10.

Optic Atrophy Type 1.

Delettre-Cribaillet C, Hamel CP, Lenaers G.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2007 Jul 13 [updated 2010 Jul 20].

11.

Inherited mitochondrial optic neuropathies.

Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF.

J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10. Review. Erratum in: J Med Genet. 2011 Apr;48(4):284.

12.

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.

13.

Mitochondrial dysfunction as a cause of optic neuropathies.

Carelli V, Ross-Cisneros FN, Sadun AA.

Prog Retin Eye Res. 2004 Jan;23(1):53-89. Review.

PMID:
14766317
14.

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B.

Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24.

15.

A missense mutation in the murine Opa3 gene models human Costeff syndrome.

Davies VJ, Powell KA, White KE, Yip W, Hogan V, Hollins AJ, Davies JR, Piechota M, Brownstein DG, Moat SJ, Nichols PP, Wride MA, Boulton ME, Votruba M.

Brain. 2008 Feb;131(Pt 2):368-80. doi: 10.1093/brain/awm333.

16.

Treatment strategies for inherited optic neuropathies: past, present and future.

Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF.

Eye (Lond). 2014 May;28(5):521-37. doi: 10.1038/eye.2014.37. Epub 2014 Mar 7. Review.

17.

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Chen Y, Jia X, Wang P, Xiao X, Li S, Guo X, Zhang Q.

Mol Vis. 2013;19:292-302. Epub 2013 Feb 6.

18.

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.

Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1424-31. doi: 10.1167/iovs.09-3606. Epub 2009 Oct 15.

PMID:
19834041
19.

Leber Hereditary Optic Neuropathy.

Yu-Wai-Man P, Chinnery PF.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2000 Oct 26 [updated 2013 Sep 19].

20.

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Sergouniotis PI, Perveen R, Thiselton DL, Giannopoulos K, Sarros M, Davies JR, Biswas S, Ansons AM, Ashworth JL, Lloyd IC, Black GC, Votruba M.

Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014-0416-y. Epub 2014 Aug 27.

PMID:
25159689
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