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Items: 17

1.

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
2.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO.

Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4. Review.

3.

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ.

Am J Med Genet A. 2009 May;149A(5):861-7. doi: 10.1002/ajmg.a.32731. Review.

PMID:
19353676
4.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
5.

[Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations].

Ołdak M, Sciezyńska A, Szulborski K, Szaflik JP, Szaflik J.

Klin Oczna. 2014;116(1):52-8. Review. Polish.

PMID:
25137924
6.

[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].

Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I.

Rinsho Shinkeigaku. 2014;54(5):417-22. Review. Japanese.

PMID:
24943079
7.

[Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)].

Kawashima S, Nishizawa M.

Nihon Rinsho. 1993 Sep;51(9):2391-5. Review. Japanese.

PMID:
8411718
8.

OPA1-associated disorders: phenotypes and pathophysiology.

Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P.

Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65. doi: 10.1016/j.biocel.2009.04.012. Epub 2009 Apr 21. Review.

PMID:
19389487
10.

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Martin-Negrier ML, Sole G, Jardel C, Vital C, Ferrer X, Vital A.

Eur J Neurol. 2011 Mar;18(3):436-41. doi: 10.1111/j.1468-1331.2010.03171.x. Epub 2010 Sep 29. Review.

PMID:
20880070
11.

Searching for genes affecting the structural integrity of the mitochondrial genome.

Zeviani M, Amati P, Comi G, Fratta G, Mariotti C, Tiranti V.

Biochim Biophys Acta. 1995 May 24;1271(1):153-8. Review.

12.

Disorders of nuclear-mitochondrial intergenomic signaling.

Spinazzola A, Zeviani M.

Gene. 2005 Jul 18;354:162-8. Review.

PMID:
15921863
13.

Focus on molecules: the OPA1 protein.

Davies V, Votruba M.

Exp Eye Res. 2006 Nov;83(5):1003-4. Epub 2006 Mar 23. Review. No abstract available.

PMID:
16563384
14.

Disorders of nuclear-mitochondrial intergenomic signalling.

Zeviani M, Petruzzella V, Carrozzo R.

J Bioenerg Biomembr. 1997 Apr;29(2):121-30. Review.

PMID:
9239538
15.

Primary and secondary defects of the mitochondrial respiratory chain.

Schapira AH.

J Inherit Metab Dis. 2002 May;25(3):207-14. Review.

PMID:
12137229
16.

Mitochondria.

Chinnery PF, Schon EA.

J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1188-99. Review.

17.

What Can Mitochondrial DNA Analysis Tell Us About Mood Disorders?

Kasahara T, Kato T.

Biol Psychiatry. 2017 Sep 21. pii: S0006-3223(17)31994-7. doi: 10.1016/j.biopsych.2017.09.010. [Epub ahead of print] Review.

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