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Items: 1 to 20 of 124

1.

Novel POLG splice site mutation and optic atrophy.

Milone M, Wang J, Liewluck T, Chen LC, Leavitt JA, Wong LJ.

Arch Neurol. 2011 Jun;68(6):806-11. doi: 10.1001/archneurol.2011.124. Erratum in: Arch Neurol. 2011 Nov;68(11):1446. Arch Neurol. 2011 Aug;68(8):1084.

PMID:
21670405
2.

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Nochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, Reynier P.

Mol Vis. 2009;15:598-608. Epub 2009 Mar 27.

3.

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
4.

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PMID:
21880868
5.

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
6.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C.

Neurology. 2004 Oct 12;63(7):1251-7.

PMID:
15477547
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.

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.

Hum Mutat. 2003 Dec;22(6):498-9.

PMID:
14635118
9.

Identification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.

Li Y, Deng T, Tong Y, Peng S, Dong B, He D.

Mol Vis. 2008;14:2451-7. Epub 2008 Dec 29.

10.

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

González-Vioque E, Blázquez A, Fernández-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernández-Moreno MA, Garesse R, Arenas J, Martín MA.

Arch Neurol. 2006 Jan;63(1):107-11.

PMID:
16401742
11.

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P.

Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385.

PMID:
18496845
12.

Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.

Hayashi T, Gekka T, Omoto S, Takeuchi T, Kitahara K.

Ophthalmic Res. 2005 Jul-Aug;37(4):214-24. Epub 2005 Jul 5.

PMID:
16006781
13.

[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers].

Macarez R, Amati-Bonneau P, Burelle X, Vanimschoot M, Dot C, Ocamica P, Kovalski JL, May F.

J Fr Ophtalmol. 2007 Feb;30(2):161-4. French.

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
15.

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.

Komulainen T, Hinttala R, Kärppä M, Pajunen L, Finnilä S, Tuominen H, Rantala H, Hassinen I, Majamaa K, Uusimaa J.

BMC Neurol. 2010 May 3;10:29. doi: 10.1186/1471-2377-10-29.

16.

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
17.

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

Milone M, Younge BR, Wang J, Zhang S, Wong LJ.

Mitochondrion. 2009 Jul;9(4):279-81. doi: 10.1016/j.mito.2009.03.001. Epub 2009 Mar 20.

PMID:
19303950
18.

Early-onset familial parkinsonism due to POLG mutations.

Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S.

Ann Neurol. 2006 May;59(5):859-62.

PMID:
16634032
19.

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24.

PMID:
12036970
20.

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ.

Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.

PMID:
18585914

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