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Items: 1 to 20 of 94

1.

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
2.

TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration.

Yagi T, Ito D, Suzuki N.

J Neuropathol Exp Neurol. 2016 Apr;75(4):299-305. doi: 10.1093/jnen/nlw009. Review.

PMID:
26945032
3.

Therapeutic Approaches to Inherited Optic Neuropathies.

Yu-Wai-Man P.

Semin Neurol. 2015 Oct;35(5):578-86. doi: 10.1055/s-0035-1563574. Review.

PMID:
26444403
4.

Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.

Allen KF, Gaier ED, Wiggs JL.

Cold Spring Harb Perspect Med. 2015 Jul 1;5(7):a017277. doi: 10.1101/cshperspect.a017277. Review.

PMID:
26134840
5.

Mitochondrial dynamics and inherited peripheral nerve diseases.

Pareyson D, Saveri P, Sagnelli A, Piscosquito G.

Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Review.

PMID:
25847151
6.

Disturbed mitochondrial dynamics and neurodegenerative disorders.

Burté F, Carelli V, Chinnery PF, Yu-Wai-Man P.

Nat Rev Neurol. 2015 Jan;11(1):11-24. doi: 10.1038/nrneurol.2014.228. Review.

PMID:
25486875
7.

[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
8.

Mitochondrial dynamic changes in health and genetic diseases.

Chen L, Winger AJ, Knowlton AA.

Mol Biol Rep. 2014 Nov;41(11):7053-62. doi: 10.1007/s11033-014-3663-y. Review.

PMID:
25103020
9.

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E.

JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. Review.

PMID:
24957169
10.

Mitochondrial dysfunction affecting visual pathways.

Leruez S, Amati-Bonneau P, Verny C, Reynier P, Procaccio V, Bonneau D, Milea D.

Rev Neurol (Paris). 2014 May;170(5):344-54. doi: 10.1016/j.neurol.2014.03.009. Review.

PMID:
24798923
11.

[Hereditary optic neuropathies: clinical and molecular genetic characteristics].

Khanakova NA, Sheremet NL, Loginova AN, Chukhrova AL, Poliakov AV.

Vestn Oftalmol. 2013 Nov-Dec;129(6):82-7. Review. Russian.

PMID:
24624809
12.

Treatment strategies for inherited optic neuropathies: past, present and future.

Yu-Wai-Man P, Votruba M, Moore AT, Chinnery PF.

Eye (Lond). 2014 May;28(5):521-37. doi: 10.1038/eye.2014.37. Review.

13.

[Hereditary optic neuropathies: from clinical signs to diagnosis].

Meunier I, Lenaers G, Hamel C, Defoort-Dhellemmes S.

J Fr Ophtalmol. 2013 Dec;36(10):886-900. doi: 10.1016/j.jfo.2013.05.007. Review. French.

14.

Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Skidd PM, Lessell S, Cestari DM.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):422-6. doi: 10.3109/08820538.2013.825296. Review.

PMID:
24138050
15.

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.

Alavi MV, Fuhrmann N.

Mol Neurodegener. 2013 Sep 25;8:32. doi: 10.1186/1750-1326-8-32. Review.

16.

[Applications of optical coherence tomography (OCT) in neuro-ophthalmology].

Kernstock C, Friebe K, Tonagel F.

Klin Monbl Augenheilkd. 2013 Nov;230(11):1097-105. doi: 10.1055/s-0033-1350786. Review. German.

PMID:
24065512
17.

Genetic and phenotypic variability of optic neuropathies.

Neuhann T, Rautenstrauss B.

Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. Review.

PMID:
23545052
18.

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options.

Carelli V, La Morgia C, Sadun AA.

Curr Opin Neurol. 2013 Feb;26(1):52-8. doi: 10.1097/WCO.0b013e32835c5f0b. Review.

PMID:
23302804
19.

Mitochondrial dynamics in neurodegeneration.

Itoh K, Nakamura K, Iijima M, Sesaki H.

Trends Cell Biol. 2013 Feb;23(2):64-71. doi: 10.1016/j.tcb.2012.10.006. Review.

20.

[Diagnosis and therapy of mitochondrial diseases].

Pál E.

Ideggyogy Sz. 2012 Jul 30;65(7-8):229-37. Review. Hungarian.

PMID:
23074842
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