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Results: 1 to 20 of 90

Similar articles for PubMed (Select 23384603)

1.

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. doi: 10.1093/brain/aws340. Epub 2013 Feb 4. No abstract available.

2.

Reply: Sensorineural hearing loss in OPA1-linked disorders.

Yu-Wai-Man P, Chinnery PF.

Brain. 2013 Jul;136(Pt 7):e237. doi: 10.1093/brain/aws341. Epub 2013 Feb 4. No abstract available.

3.

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. doi: 10.1093/brain/awr101. Epub 2011 Jun 6. No abstract available.

4.

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. No abstract available.

5.

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.

Yu-Wai-Man P, Chinnery PF.

Brain. 2015 Jan;138(Pt 1):e322. doi: 10.1093/brain/awu235. Epub 2014 Aug 21. No abstract available.

6.

'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. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. No abstract available.

PMID:
25146916
7.

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.

8.

Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.

Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.

Am J Ophthalmol. 2004 Nov;138(5):749-55.

PMID:
15531309
9.

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.

10.

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI.

Am J Med Genet A. 2005 Oct 15;138A(3):208-11.

PMID:
16158427
11.

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

Ke T, Nie SW, Yang QB, Liu JP, Zhou LN, Ren X, Liu JY, Wang Q, Liu MG.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Oct;23(5):481-5.

PMID:
17029191
12.

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P.

Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. No abstract available.

PMID:
25012220
13.

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthièry Y, Bonneau D, Lenaers G, Reynier P.

Ann Neurol. 2005 Dec;58(6):958-63.

PMID:
16240368
14.

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. doi: 10.1159/000336743. Epub 2012 Apr 3. No abstract available.

PMID:
22472598
15.

A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation.

Liguori M, La Russa A, Manna I, Andreoli V, Caracciolo M, Spadafora P, Cittadella R, Quattrone A.

J Neurol. 2008 Jan;255(1):127-9. doi: 10.1007/s00415-008-0571-x. Epub 2008 Jan 22. No abstract available.

PMID:
18204809
16.

Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood?

Kearns LS, Forrest M, Cohn AC, Churchill AJ, Mackey DA.

Ophthalmic Genet. 2010 Mar;31(1):44-6. doi: 10.3109/13816810903479842.

PMID:
20141358
17.

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.

PMID:
14644237
18.

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.

Van Bergen NJ, Crowston JG, Kearns LS, Staffieri SE, Hewitt AW, Cohn AC, Mackey DA, Trounce IA.

PLoS One. 2011;6(6):e21347. doi: 10.1371/journal.pone.0021347. Epub 2011 Jun 22.

19.

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
20.

Optic atrophy and negative electroretinogram in a patient associated with a novel OPA1 mutation.

Nakamura M, Miyake Y.

Graefes Arch Clin Exp Ophthalmol. 2006 Feb;244(2):274-5. Epub 2005 Jul 15. No abstract available.

PMID:
16021496
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