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Items: 1 to 50 of 103

1.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M.

Ann Neurol. 2019 Jul 12. doi: 10.1002/ana.25550. [Epub ahead of print]

PMID:
31298765
2.

The Relationship Between the Photopic Negative Response and Retinal Ganglion Cell Topography.

Morny EKA, Patel K, Votruba M, Binns AM, Margrain TH.

Invest Ophthalmol Vis Sci. 2019 May 1;60(6):1879-1887. doi: 10.1167/iovs.18-25272.

PMID:
31042794
3.

Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation.

Diot A, Agnew T, Sanderson J, Liao C, Carver J, Neves RPD, Gupta R, Guo Y, Waters C, Seto S, Daniels MJ, Dombi E, Lodge T, Morten K, Williams SA, Enver T, Iborra FJ, Votruba M, Poulton J.

Front Cell Dev Biol. 2018 Sep 19;6:103. doi: 10.3389/fcell.2018.00103. eCollection 2018.

4.

Peripapillary microcirculation in Leber hereditary optic neuropathy.

Kousal B, Kolarova H, Meliska M, Bydzovsky J, Diblik P, Kulhanek J, Votruba M, Honzik T, Liskova P.

Acta Ophthalmol. 2019 Feb;97(1):e71-e76. doi: 10.1111/aos.13817. Epub 2018 Sep 26.

PMID:
30259673
5.

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PMID:
30143805
6.

Optimal Omeprazole Dosing and Symptom Control: A Randomized Controlled Trial (OSCAR Trial).

Waghray A, Waghray N, Perzynski AT, Votruba M, Wolfe MM.

Dig Dis Sci. 2019 Jan;64(1):158-166. doi: 10.1007/s10620-018-5235-9. Epub 2018 Aug 9.

PMID:
30094626
7.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

PMID:
29967284
8.

Association Of A Regional Health Improvement Collaborative With Ambulatory Care-Sensitive Hospitalizations.

Tanenbaum J, Cebul RD, Votruba M, Einstadter D.

Health Aff (Millwood). 2018 Feb;37(2):266-274. doi: 10.1377/hlthaff.2017.1209.

PMID:
29401005
9.

Can the retina be used to diagnose and plot the progression of Alzheimer's disease?

Mahajan D, Votruba M.

Acta Ophthalmol. 2017 Dec;95(8):768-777. doi: 10.1111/aos.13472. Epub 2017 Jun 9. Review.

10.

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.

Mahajan D, Votruba M.

Acta Ophthalmol. 2018 Jun;96(4):e535-e536. doi: 10.1111/aos.13629. Epub 2017 Nov 29. No abstract available.

11.

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.

Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P.

J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570.

PMID:
28991104
12.

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy.

Majander A, Robson AG, João C, Holder GE, Chinnery PF, Moore AT, Votruba M, Stockman A, Yu-Wai-Man P.

Mitochondrion. 2017 Sep;36:138-149. doi: 10.1016/j.mito.2017.07.006. Epub 2017 Jul 18.

13.

Photostimulation of mitochondria as a treatment for retinal neurodegeneration.

Beirne K, Rozanowska M, Votruba M.

Mitochondrion. 2017 Sep;36:85-95. doi: 10.1016/j.mito.2017.05.002. Epub 2017 May 9. Review.

PMID:
28499983
14.

Childhood-onset Leber hereditary optic neuropathy.

Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P.

Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072. Epub 2017 Mar 17.

15.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, Henning GB, Votruba M, Moore AT, Yu-Wai-Man P, Stockman A.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):502-516. doi: 10.1167/iovs.16-20309.

16.

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J.

Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.

17.

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M.

Acta Ophthalmol. 2017 Jun;95(4):363-369. doi: 10.1111/aos.13285. Epub 2016 Nov 17.

18.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Yu-Wai-Man P, Votruba M, Burté F, La Morgia C, Barboni P, Carelli V.

Acta Neuropathol. 2016 Dec;132(6):789-806. Epub 2016 Sep 30. Review.

19.

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

Kushnareva Y, Seong Y, Andreyev AY, Kuwana T, Kiosses WB, Votruba M, Newmeyer DD.

Cell Death Dis. 2016 Jul 28;7:e2309. doi: 10.1038/cddis.2016.160.

20.

Red Light Treatment in an Axotomy Model of Neurodegeneration.

Beirne K, Rozanowska M, Votruba M.

Photochem Photobiol. 2016 Jul;92(4):624-31. doi: 10.1111/php.12606.

PMID:
27276065
21.

Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.

Navein AE, Cooke EJ, Davies JR, Smith TG, Wells LH, Ohazama A, Healy C, Sharpe PT, Evans SL, Evans BA, Votruba M, Wells T.

Hum Mol Genet. 2016 Jun 15;25(12):2404-2416. Epub 2016 Apr 22.

22.
23.

Electrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.

Morny EK, Margrain TH, Binns AM, Votruba M.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7629-37. doi: 10.1167/iovs.15-17951.

PMID:
26624494
24.

Decision-Making and the Barriers to Judicious Antibiotic Use.

Meropol SB, Votruba ME.

Pediatrics. 2015 Aug;136(2):387-8. doi: 10.1542/peds.2015-1780. Epub 2015 Jul 20. No abstract available.

25.

Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome).

Pratyusha G, Votruba M.

Acta Ophthalmol. 2015 Nov;93(7):e598-9. doi: 10.1111/aos.12690. Epub 2015 Feb 17. No abstract available.

26.

Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.

Ganne P, Garrioch R, Votruba M.

Ophthalmic Genet. 2015 Mar;36(1):50-7. doi: 10.3109/13816810.2014.985845. Epub 2014 Nov 28.

PMID:
25431037
27.

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

Sergouniotis PI, Perveen R, Thiselton DL, Giannopoulos K, Sarros M, Davies JR, Biswas S, Ansons AM, Ashworth JL, Lloyd IC, Black GC, Votruba M.

Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014-0416-y. Epub 2014 Aug 27.

PMID:
25159689
28.

The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process.

Rowe F, Wormald R, Cable R, Acton M, Bonstein K, Bowen M, Bronze C, Bunce C, Conroy D, Cowan K, Evans K, Fenton M, Giles H, Gordon I, Halfhide L, Harper R, Lightstone A, Votruba M, Waterman H, Zekite A.

BMJ Open. 2014 Jul 23;4(7):e004905. doi: 10.1136/bmjopen-2014-004905.

29.

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. Epub 2014 Mar 7. Review.

30.

Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation.

Morris B, Votruba M.

Acta Ophthalmol. 2014 Feb;92(1):e77. doi: 10.1111/aos.12100. Epub 2013 Mar 18. No abstract available.

31.

Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease.

Williams PA, Thirgood RA, Oliphant H, Frizzati A, Littlewood E, Votruba M, Good MA, Williams J, Morgan JE.

Neurobiol Aging. 2013 Jul;34(7):1799-806. doi: 10.1016/j.neurobiolaging.2013.01.006. Epub 2013 Mar 7.

PMID:
23465714
32.

Visual and psychological morbidity among patients with autosomal dominant optic atrophy.

Bailie M, Votruba M, Griffiths PG, Chinnery PF, Yu-Wai-Man P.

Acta Ophthalmol. 2013 Aug;91(5):e413-4. doi: 10.1111/aos.12077. Epub 2013 Mar 4. No abstract available.

33.

Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy.

Perganta G, Barnard AR, Katti C, Vachtsevanos A, Douglas RH, MacLaren RE, Votruba M, Sekaran S.

PLoS One. 2013;8(2):e56350. doi: 10.1371/journal.pone.0056350. Epub 2013 Feb 11.

34.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M.

Acta Ophthalmol. 2013 May;91(3):e225-31. doi: 10.1111/aos.12038. Epub 2013 Feb 7.

35.

OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability.

Chen L, Liu T, Tran A, Lu X, Tomilov AA, Davies V, Cortopassi G, Chiamvimonvat N, Bers DM, Votruba M, Knowlton AA.

J Am Heart Assoc. 2012 Oct;1(5):e003012. doi: 10.1161/JAHA.112.003012. Epub 2012 Oct 25.

36.

Guidelines for the use and interpretation of assays for monitoring autophagy.

Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC Jr, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pierri N, Brunk UT, Bulman DE, Bultman SJ, Bultynck G, Burbulla LF, Bursch W, Butchar JP, Buzgariu W, Bydlowski SP, Cadwell K, Cahová M, Cai D, Cai J, Cai Q, Calabretta B, Calvo-Garrido J, Camougrand N, Campanella M, Campos-Salinas J, Candi E, Cao L, Caplan AB, Carding SR, Cardoso SM, Carew JS, Carlin CR, Carmignac V, Carneiro LA, Carra S, Caruso RA, Casari G, Casas C, Castino R, Cebollero E, Cecconi F, Celli J, Chaachouay H, Chae HJ, Chai CY, Chan DC, Chan EY, Chang RC, Che CM, Chen CC, Chen GC, Chen GQ, Chen M, Chen Q, Chen SS, Chen W, Chen X, Chen X, Chen X, Chen YG, Chen Y, Chen Y, Chen YJ, Chen Z, Cheng A, Cheng CH, Cheng Y, Cheong H, Cheong JH, Cherry S, Chess-Williams R, Cheung ZH, Chevet E, Chiang HL, Chiarelli R, Chiba T, Chin LS, Chiou SH, Chisari FV, Cho CH, Cho DH, Choi AM, Choi D, Choi KS, Choi ME, Chouaib S, Choubey D, Choubey V, Chu CT, Chuang TH, Chueh SH, Chun T, Chwae YJ, Chye ML, Ciarcia R, Ciriolo MR, Clague MJ, Clark RS, Clarke PG, Clarke R, Codogno P, Coller HA, Colombo MI, Comincini S, Condello M, Condorelli F, Cookson MR, Coombs GH, Coppens I, Corbalan R, Cossart P, Costelli P, Costes S, Coto-Montes A, Couve E, Coxon FP, Cregg JM, Crespo JL, Cronjé MJ, Cuervo AM, Cullen JJ, Czaja MJ, D'Amelio M, Darfeuille-Michaud A, Davids LM, Davies FE, De Felici M, de Groot JF, de Haan CA, De Martino L, De Milito A, De Tata V, Debnath J, Degterev A, Dehay B, Delbridge LM, Demarchi F, Deng YZ, Dengjel J, Dent P, Denton D, Deretic V, Desai SD, Devenish RJ, Di Gioacchino M, Di Paolo G, Di Pietro C, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dikic I, Dinesh-Kumar SP, Ding WX, Distelhorst CW, Diwan A, Djavaheri-Mergny M, Dokudovskaya S, Dong Z, Dorsey FC, Dosenko V, Dowling JJ, Doxsey S, Dreux M, Drew ME, Duan Q, Duchosal MA, Duff K, Dugail I, Durbeej M, Duszenko M, Edelstein CL, Edinger AL, Egea G, Eichinger L, Eissa NT, Ekmekcioglu S, El-Deiry WS, Elazar Z, Elgendy M, Ellerby LM, Eng KE, Engelbrecht AM, Engelender S, Erenpreisa J, Escalante R, Esclatine A, Eskelinen EL, Espert L, Espina V, Fan H, Fan J, Fan QW, Fan Z, Fang S, Fang Y, Fanto M, Fanzani A, Farkas T, Farré JC, Faure M, Fechheimer M, Feng CG, Feng J, Feng Q, Feng Y, Fésüs L, Feuer R, Figueiredo-Pereira ME, Fimia GM, Fingar DC, Finkbeiner S, Finkel T, Finley KD, Fiorito F, Fisher EA, Fisher PB, Flajolet M, Florez-McClure ML, Florio S, Fon EA, Fornai F, Fortunato F, Fotedar R, Fowler DH, Fox HS, Franco R, Frankel LB, Fransen M, Fuentes JM, Fueyo J, Fujii J, Fujisaki K, Fujita E, Fukuda M, Furukawa RH, Gaestel M, Gailly P, Gajewska M, Galliot B, Galy V, Ganesh S, Ganetzky B, Ganley IG, Gao FB, Gao GF, Gao J, Garcia L, Garcia-Manero G, Garcia-Marcos M, Garmyn M, Gartel AL, Gatti E, Gautel M, Gawriluk TR, Gegg ME, Geng J, Germain M, Gestwicki JE, Gewirtz DA, Ghavami S, Ghosh P, Giammarioli AM, Giatromanolaki AN, Gibson SB, Gilkerson RW, Ginger ML, Ginsberg HN, Golab J, Goligorsky MS, Golstein P, Gomez-Manzano C, Goncu E, Gongora C, Gonzalez CD, Gonzalez R, González-Estévez C, González-Polo RA, Gonzalez-Rey E, Gorbunov NV, Gorski S, Goruppi S, Gottlieb RA, Gozuacik D, Granato GE, Grant GD, Green KN, Gregorc A, Gros F, Grose C, Grunt TW, Gual P, Guan JL, Guan KL, Guichard SM, Gukovskaya AS, Gukovsky I, Gunst J, Gustafsson AB, Halayko AJ, Hale AN, Halonen SK, Hamasaki M, Han F, Han T, Hancock MK, Hansen M, Harada H, Harada M, Hardt SE, Harper JW, Harris AL, Harris J, Harris SD, Hashimoto M, Haspel JA, Hayashi S, Hazelhurst LA, He C, He YW, Hébert MJ, Heidenreich KA, Helfrich MH, Helgason GV, Henske EP, Herman B, Herman PK, Hetz C, Hilfiker S, Hill JA, Hocking LJ, Hofman P, Hofmann TG, Höhfeld J, Holyoake TL, Hong MH, Hood DA, Hotamisligil GS, Houwerzijl EJ, Høyer-Hansen M, Hu B, Hu CA, Hu HM, Hua Y, Huang C, Huang J, Huang S, Huang WP, Huber TB, Huh WK, Hung TH, Hupp TR, Hur GM, Hurley JB, Hussain SN, Hussey PJ, Hwang JJ, Hwang S, Ichihara A, Ilkhanizadeh S, Inoki K, Into T, Iovane V, Iovanna JL, Ip NY, Isaka Y, Ishida H, Isidoro C, Isobe K, Iwasaki A, Izquierdo M, Izumi Y, Jaakkola PM, Jäättelä M, Jackson GR, Jackson WT, Janji B, Jendrach M, Jeon JH, Jeung EB, Jiang H, Jiang H, Jiang JX, Jiang M, Jiang Q, Jiang X, Jiang X, Jiménez A, Jin M, Jin S, Joe CO, Johansen T, Johnson DE, Johnson GV, Jones NL, Joseph B, Joseph SK, Joubert AM, Juhász G, Juillerat-Jeanneret L, Jung CH, Jung YK, Kaarniranta K, Kaasik A, Kabuta T, Kadowaki M, Kagedal K, Kamada Y, Kaminskyy VO, Kampinga HH, Kanamori H, Kang C, Kang KB, Kang KI, Kang R, Kang YA, Kanki T, Kanneganti TD, Kanno H, Kanthasamy AG, Kanthasamy A, Karantza V, Kaushal GP, Kaushik S, Kawazoe Y, Ke PY, Kehrl JH, Kelekar A, Kerkhoff C, Kessel DH, Khalil H, Kiel JA, Kiger AA, Kihara A, Kim DR, Kim DH, Kim DH, Kim EK, Kim HR, Kim JS, Kim JH, Kim JC, Kim JK, Kim PK, Kim SW, Kim YS, Kim Y, Kimchi A, Kimmelman AC, King JS, Kinsella TJ, Kirkin V, Kirshenbaum LA, Kitamoto K, Kitazato K, Klein L, Klimecki WT, Klucken J, Knecht E, Ko BC, Koch JC, Koga H, Koh JY, Koh YH, Koike M, Komatsu M, Kominami E, Kong HJ, Kong WJ, Korolchuk VI, Kotake Y, Koukourakis MI, Kouri Flores JB, Kovács AL, Kraft C, Krainc D, Krämer H, Kretz-Remy C, Krichevsky AM, Kroemer G, Krüger R, Krut O, Ktistakis NT, Kuan CY, Kucharczyk R, Kumar A, Kumar R, Kumar S, Kundu M, Kung HJ, Kurz T, Kwon HJ, La Spada AR, Lafont F, Lamark T, Landry J, Lane JD, Lapaquette P, Laporte JF, László L, Lavandero S, Lavoie JN, Layfield R, Lazo PA, Le W, Le Cam L, Ledbetter DJ, Lee AJ, Lee BW, Lee GM, Lee J, Lee JH, Lee M, Lee MS, Lee SH, Leeuwenburgh C, Legembre P, Legouis R, Lehmann M, Lei HY, Lei QY, Leib DA, Leiro J, Lemasters JJ, Lemoine A, Lesniak MS, Lev D, Levenson VV, Levine B, Levy E, Li F, Li JL, Li L, Li S, Li W, Li XJ, Li YB, Li YP, Liang C, Liang Q, Liao YF, Liberski PP, Lieberman A, Lim HJ, Lim KL, Lim K, Lin CF, Lin FC, Lin J, Lin JD, Lin K, Lin WW, Lin WC, Lin YL, Linden R, Lingor P, Lippincott-Schwartz J, Lisanti MP, Liton PB, Liu B, Liu CF, Liu K, Liu L, Liu QA, Liu W, Liu YC, Liu Y, Lockshin RA, Lok CN, Lonial S, Loos B, Lopez-Berestein G, López-Otín C, Lossi L, Lotze MT, Lőw P, Lu B, Lu B, Lu B, Lu Z, Luciano F, Lukacs NW, Lund AH, Lynch-Day MA, Ma Y, Macian F, MacKeigan JP, Macleod KF, Madeo F, Maiuri L, Maiuri MC, Malagoli D, Malicdan MC, Malorni W, Man N, Mandelkow EM, Manon S, Manov I, Mao K, Mao X, Mao Z, Marambaud P, Marazziti D, Marcel YL, Marchbank K, Marchetti P, Marciniak SJ, Marcondes M, Mardi M, Marfe G, Mariño G, Markaki M, Marten MR, Martin SJ, Martinand-Mari C, Martinet W, Martinez-Vicente M, Masini M, Matarrese P, Matsuo S, Matteoni R, Mayer A, Mazure NM, McConkey DJ, McConnell MJ, McDermott C, McDonald C, McInerney GM, McKenna SL, McLaughlin B, McLean PJ, McMaster CR, McQuibban GA, Meijer AJ, Meisler MH, Meléndez A, Melia TJ, Melino G, Mena MA, Menendez JA, Menna-Barreto RF, 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Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.

Wells T, Davies JR, Guschina IA, Ball DJ, Davies JS, Davies VJ, Evans BA, Votruba M.

Hum Mol Genet. 2012 Nov 15;21(22):4836-44. doi: 10.1093/hmg/dds315. Epub 2012 Aug 6.

PMID:
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Leber's optic neuropathy - visual return on alcohol cessation.

Morris B, Votruba M.

Acta Ophthalmol. 2012 Nov;90(7):e568. doi: 10.1111/j.1755-3768.2012.02387.x. Epub 2012 Mar 9. No abstract available.

39.

Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.

Williams PA, Piechota M, von Ruhland C, Taylor E, Morgan JE, Votruba M.

Brain. 2012 Feb;135(Pt 2):493-505. doi: 10.1093/brain/awr330. Epub 2012 Feb 1.

PMID:
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Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy.

Barnard AR, Charbel Issa P, Perganta G, Williams PA, Davies VJ, Sekaran S, Votruba M, MacLaren RE.

Exp Eye Res. 2011 Nov;93(5):771-7. doi: 10.1016/j.exer.2011.07.004. Epub 2011 Jul 22.

PMID:
21803037
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Divorced fathers' proximity and children's long-run outcomes: evidence from Norwegian registry data.

Kalil A, Mogstad M, Rege M, Votruba M.

Demography. 2011 Aug;48(3):1005-27. doi: 10.1007/s13524-011-0046-z.

PMID:
21691929
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Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.

Powell KA, Davies JR, Taylor E, Wride MA, Votruba M.

Invest Ophthalmol Vis Sci. 2011 Jun 21;52(7):4369-80. doi: 10.1167/iovs.10-6406.

PMID:
21613372
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Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy.

Williams PA, Morgan JE, Votruba M.

Brain. 2010 Oct;133(10):2942-51. doi: 10.1093/brain/awq218. Epub 2010 Sep 3.

PMID:
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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.

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Multi-system neurological disease is common in patients with OPA1 mutations.

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Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15.

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Changes in corneal collagen architecture during mouse postnatal development.

Sheppard J, Hayes S, Boote C, Votruba M, Meek KM.

Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2936-42. doi: 10.1167/iovs.09-4612. Epub 2010 Jan 20.

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Trans fats, the rational consumer, and the role of government.

Votruba ME.

Virtual Mentor. 2010 Oct 1;12(10):804-11. doi: 10.1001/virtualmentor.2010.12.10.pfor1-1010. No abstract available.

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Organizational fragmentation and care quality in the U.S healthcare system.

Cebul RD, Rebitzer JB, Taylor LJ, Votruba ME.

J Econ Perspect. 2008 Fall;22(4):93-113. No abstract available.

PMID:
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Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.

Yu-Wai-Man P, Davies VJ, Piechota MJ, Cree LM, Votruba M, Chinnery PF.

Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4561-6. doi: 10.1167/iovs.09-3634. Epub 2009 May 14.

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OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy.

White KE, Davies VJ, Hogan VE, Piechota MJ, Nichols PP, Turnbull DM, Votruba M.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2567-71. doi: 10.1167/iovs.08-2913. Epub 2009 Feb 21.

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