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Items: 1 to 20 of 95

1.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G.

Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22. Erratum in: Am J Hum Genet. 2015 Nov 5;97(5):769.

2.

Siblings with optic neuropathy and RTN4IP1 mutation.

Okamoto N, Miya F, Hatsukawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.

J Hum Genet. 2017 Oct;62(10):927-929. doi: 10.1038/jhg.2017.68. Epub 2017 Jun 22.

PMID:
28638143
3.

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.

Hanein S, Garcia M, Fares-Taie L, Serre V, De Keyzer Y, Delaveau T, Perrault I, Delphin N, Gerber S, Schmitt A, Masse JM, Munnich A, Kaplan J, Devaux F, Rozet JM.

Biochim Biophys Acta. 2013 Jun;1830(6):3719-33. doi: 10.1016/j.bbagen.2013.02.025. Epub 2013 Mar 13.

PMID:
23500070
4.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.

J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.

PMID:
25351951
5.

Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.

Zou XH, Guo XX, Su HZ, Wang C, Dong EL, Wang N, Chen WJ, Zhang QJ.

J Mol Neurosci. 2019 Aug;68(4):640-646. doi: 10.1007/s12031-019-01319-7. Epub 2019 May 10.

PMID:
31077085
6.

Retinal ganglion cell death and optic nerve degeneration by genetic ablation in adult mice.

Cho JH, Mu X, Wang SW, Klein WH.

Exp Eye Res. 2009 Mar;88(3):542-52. doi: 10.1016/j.exer.2008.11.021. Epub 2008 Dec 6.

7.

Optic neuropathies--importance of spatial distribution of mitochondria as well as function.

Yu Wai Man CY, Chinnery PF, Griffiths PG.

Med Hypotheses. 2005;65(6):1038-42. Epub 2005 Aug 10.

PMID:
16098682
8.

Optic neuropathies: the tip of the neurodegeneration iceberg.

Carelli V, La Morgia C, Ross-Cisneros FN, Sadun AA.

Hum Mol Genet. 2017 Oct 1;26(R2):R139-R150. doi: 10.1093/hmg/ddx273. Review.

9.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G.

JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065.

10.

A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene.

Kelman JC, Kamien BA, Murray NC, Goel H, Fraser CL, Grigg JR.

Ophthalmic Genet. 2018 Oct;39(5):648-651. doi: 10.1080/13816810.2018.1509353. Epub 2018 Aug 17.

PMID:
30118607
11.

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP.

Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10.

PMID:
26061759
12.

Light affects mitochondria to cause apoptosis to cultured cells: possible relevance to ganglion cell death in certain optic neuropathies.

Osborne NN, Li GY, Ji D, Mortiboys HJ, Jackson S.

J Neurochem. 2008 Jun;105(5):2013-28. doi: 10.1111/j.1471-4159.2008.05320.x. Epub 2008 Feb 28.

13.

Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.

Yu AK, Datta S, McMackin MZ, Cortopassi GA.

Hum Mol Genet. 2017 Dec 15;26(24):4929-4936. doi: 10.1093/hmg/ddx373.

14.

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.

Bagli E, Zikou AK, Agnantis N, Kitsos G.

In Vivo. 2017 Jul-Aug;31(4):511-525. Review.

15.

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.

16.

Genetically determined optic neuropathies.

Milea D, Amati-Bonneau P, Reynier P, Bonneau D.

Curr Opin Neurol. 2010 Feb;23(1):24-8. doi: 10.1097/WCO.0b013e3283347b27. Review.

PMID:
19915464
17.

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.

Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA.

Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5. Review.

18.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

19.

Bipolar cell reduction precedes retinal ganglion neuron loss in a complex 1 knockout mouse model.

Song L, Yu A, Murray K, Cortopassi G.

Brain Res. 2017 Feb 15;1657:232-244. doi: 10.1016/j.brainres.2016.12.019. Epub 2016 Dec 24.

PMID:
28027875
20.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Sarzi E, Seveno M, Angebault C, Milea D, Rönnbäck C, Quilès M, Adrian M, Grenier J, Caignard A, Lacroux A, Lavergne C, Reynier P, Larsen M, Hamel CP, Delettre C, Lenaers G, Müller A.

Hum Mol Genet. 2016 Jun 15;25(12):2539-2551. Epub 2016 Jun 3. Erratum in: Hum Mol Genet. 2017 Dec 1;26(23):4764.

PMID:
27260406

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