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Items: 15

1.

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F.

Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7.

PMID:
21636302
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.

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
4.

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP.

Mol Genet Metab. 2002 Feb;75(2):97-107. Review.

PMID:
11855928
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.

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.

Chun BY, Rizzo JF 3rd.

Curr Opin Ophthalmol. 2016 Nov;27(6):475-480. Review.

PMID:
27585216
7.

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.

8.

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.

9.

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.

10.

Optic Atrophy Type 1.

Delettre-Cribaillet C, Hamel CP, Lenaers G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Jul 13 [updated 2015 Nov 12].

11.

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Ho G, Walter JH, Christodoulou J.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. Review.

PMID:
18985435
12.

Mitochondria.

Chinnery PF, Schon EA.

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

13.

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases.

Rahman S, Hanna MG.

J Neurol Neurosurg Psychiatry. 2009 Sep;80(9):943-53. doi: 10.1136/jnnp.2008.158279. Review.

PMID:
19684231
14.

Clinical presentation of mitochondrial disorders in childhood.

Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P.

J Inherit Metab Dis. 1996;19(4):521-7. Review.

PMID:
8884575
15.

Nucleus-driven mutations of human mitochondrial DNA.

Zeviani M.

J Inherit Metab Dis. 1992;15(4):456-71. Review.

PMID:
1528006

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