Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 1 to 20 of 52

1.

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Ferré M, Caignard A, Milea D, Leruez S, Cassereau J, Chevrollier A, Amati-Bonneau P, Verny C, Bonneau D, Procaccio V, Reynier P.

Hum Mutat. 2015 Jan;36(1):20-5. doi: 10.1002/humu.22703. Epub 2014 Dec 1.

PMID:
25243597
2.

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.

PMID:
23384603
3.

Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy.

Gallus GN, Cardaioli E, Rufa A, Da Pozzo P, Bianchi S, D'Eramo C, Collura M, Tumino M, Pavone L, Federico A.

Mol Vis. 2010 Feb 10;16:178-83.

4.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM.

Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26.

5.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P.

Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025.

PMID:
19319978
6.

Reversible optic neuropathy with OPA1 exon 5b mutation.

Cornille K, Milea D, Amati-Bonneau P, Procaccio V, Zazoun L, Guillet V, El Achouri G, Delettre C, Gueguen N, Loiseau D, Muller A, Ferré M, Chevrollier A, Wallace DC, Bonneau D, Hamel C, Reynier P, Lenaers G.

Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376.

PMID:
18360822
7.

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S.

Arch Neurol. 2008 Jan;65(1):125-31. doi: 10.1001/archneurol.2007.9.

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
9.

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
10.

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

Baloh RH, Schmidt RE, Pestronk A, Milbrandt J.

J Neurosci. 2007 Jan 10;27(2):422-30.

11.

Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L.

J Med Genet. 2006 May;43(5):435-40.

12.

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H.

Ophthalmology. 2006 Mar;113(3):483-488.e1.

PMID:
16513463
13.

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM.

Ann Neurol. 2006 Feb;59(2):276-81.

PMID:
16437557
14.

The axonal transport of mitochondria.

Hollenbeck PJ, Saxton WM.

J Cell Sci. 2005 Dec 1;118(Pt 23):5411-9. Review.

15.

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, Hamel CP.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4288-94.

PMID:
16249510
16.

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
17.

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
18.

Hereditary optic neuropathies: from the mitochondria to the optic nerve.

Newman NJ.

Am J Ophthalmol. 2005 Sep;140(3):517-23. Review.

PMID:
16083845
19.

Mitochondria and neurotransmission: evacuating the synapse.

Hollenbeck PJ.

Neuron. 2005 Aug 4;47(3):331-3. Review.

20.

Dominant optic atrophy: correlation between clinical and molecular genetic studies.

Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, Savontaus ML, Somer M, Nikoskelainen E.

Acta Ophthalmol Scand. 2005 Jun;83(3):337-46.

Supplemental Content

Support Center