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Incidence and predictors of total mortality in 267 adults presenting with mitochondrial diseases.

Papadopoulos C, Wahbi K, Behin A, Bougouin W, Stojkovic T, Leonard-Louis S, Berber N, Lombès A, Duboc D, Jardel C, Eymard B, Laforêt P.

J Inherit Metab Dis. 2019 Oct 25. doi: 10.1002/jimd.12185. [Epub ahead of print]


Kinetic analysis of ATP hydrolysis by complex V in four murine tissues: Towards an assay suitable for clinical diagnosis.

Haraux F, Lombès A.

PLoS One. 2019 Aug 28;14(8):e0221886. doi: 10.1371/journal.pone.0221886. eCollection 2019.


Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Brisset M, Béhin A, Pottier C, Jardel C, Sharshar T, Mochel F, Mallard F, Slama A, Lombès A, Eymard B, Laforêt P.

Rev Neurol (Paris). 2019 Oct;175(9):564-567. doi: 10.1016/j.neurol.2018.12.004. Epub 2019 May 1.


Potentiation of mitotane action by rosuvastatin: New insights for adrenocortical carcinoma management.

Boulate G, Amazit L, Naman A, Seck A, Paci A, Lombes A, Pussard E, Baudin E, Lombes M, Hescot S.

Int J Oncol. 2019 Jun;54(6):2149-2156. doi: 10.3892/ijo.2019.4770. Epub 2019 Apr 3.


Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. No abstract available.


Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

Blázquez-Bermejo C, Carreño-Gago L, Molina-Granada D, Aguirre J, Ramón J, Torres-Torronteras J, Cabrera-Pérez R, Martín MÁ, Domínguez-González C, de la Cruz X, Lombès A, García-Arumí E, Martí R, Cámara Y.

FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.


Mitochondrial stress response triggered by defects in protein synthesis quality control.

Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson C, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombès A, Taylor RW, Battersby BJ.

Life Sci Alliance. 2019 Jan 25;2(1). pii: e201800219. doi: 10.26508/lsa.201800219. Print 2019 Feb.


MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.

Corazza G, Pagan C, Hardy G, Besson G, Lombès A; MNGIE project.

Gastroenterology. 2019 Apr;156(5):1525-1527.e4. doi: 10.1053/j.gastro.2018.12.011. Epub 2018 Dec 22. No abstract available.


Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Kaphan E, Bou Ali H, Gastaldi M, Acquaviva C, Vianey-Saban C, Rouzier C, Fragaki K, Bannwarth S, Paquis-Flucklinger V, Romero N, Behin A, Lombès A, Jardel C, Rigal O, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.


Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S.

Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8.


Drug-Induced Alterations of Mitochondrial DNA Homeostasis in Steatotic and Nonsteatotic HepaRG Cells.

Le Guillou D, Bucher S, Begriche K, Hoët D, Lombès A, Labbe G, Fromenty B.

J Pharmacol Exp Ther. 2018 Jun;365(3):711-726. doi: 10.1124/jpet.117.246751. Epub 2018 Apr 18.


Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.

Iommarini L, Ghelli A, Tropeano CV, Kurelac I, Leone G, Vidoni S, Lombes A, Zeviani M, Gasparre G, Porcelli AM.

Int J Mol Sci. 2018 Mar 7;19(3). pii: E764. doi: 10.3390/ijms19030764.


Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53.

Arena G, Cissé MY, Pyrdziak S, Chatre L, Riscal R, Fuentes M, Arnold JJ, Kastner M, Gayte L, Bertrand-Gaday C, Nay K, Angebault-Prouteau C, Murray K, Chabi B, Koechlin-Ramonatxo C, Orsetti B, Vincent C, Casas F, Marine JC, Etienne-Manneville S, Bernex F, Lombès A, Cameron CE, Dubouchaud H, Ricchetti M, Linares LK, Le Cam L.

Mol Cell. 2018 Feb 15;69(4):594-609.e8. doi: 10.1016/j.molcel.2018.01.023.


DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade.

Touat M, Sourisseau T, Dorvault N, Chabanon RM, Garrido M, Morel D, Krastev DB, Bigot L, Adam J, Frankum JR, Durand S, Pontoizeau C, Souquère S, Kuo MS, Sauvaigo S, Mardakheh F, Sarasin A, Olaussen KA, Friboulet L, Bouillaud F, Pierron G, Ashworth A, Lombès A, Lord CJ, Soria JC, Postel-Vinay S.

J Clin Invest. 2018 Apr 2;128(4):1671-1687. doi: 10.1172/JCI90277. Epub 2018 Mar 19.


Identifying mitotane-induced mitochondria-associated membranes dysfunctions: metabolomic and lipidomic approaches.

Hescot S, Amazit L, Lhomme M, Travers S, DuBow A, Battini S, Boulate G, Namer IJ, Lombes A, Kontush A, Imperiale A, Baudin E, Lombes M.

Oncotarget. 2017 Jul 4;8(66):109924-109940. doi: 10.18632/oncotarget.18968. eCollection 2017 Dec 15.


Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants.

J Inherit Metab Dis. 2018 Jan;41(1):151. doi: 10.1007/s10545-017-0081-z. No abstract available.


Reply to "Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia".

Guéguen A, Jardel C, Polivka M, Tan SV, Gray F, Vignal C, Lombès A, Gout O, Bostock H.

Clin Neurophysiol. 2017 Oct;128(10):2098. doi: 10.1016/j.clinph.2017.07.407. Epub 2017 Jul 31. No abstract available.


Genetic diagnosis of Mendelian disorders via RNA sequencing.

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H.

Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824.


ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A.

Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.


Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia.

Gueguen A, Jardel C, Polivka M, Tan SV, Gray F, Vignal C, Lombès A, Gout O, Bostock H.

Clin Neurophysiol. 2017 Jul;128(7):1258-1263. doi: 10.1016/j.clinph.2017.04.013. Epub 2017 Apr 26.


Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:.

J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. Erratum in: J Inherit Metab Dis. 2017 Oct 4;:.


Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders.

Lorenz C, Lesimple P, Bukowiecki R, Zink A, Inak G, Mlody B, Singh M, Semtner M, Mah N, Auré K, Leong M, Zabiegalov O, Lyras EM, Pfiffer V, Fauler B, Eichhorst J, Wiesner B, Huebner N, Priller J, Mielke T, Meierhofer D, Izsvák Z, Meier JC, Bouillaud F, Adjaye J, Schuelke M, Wanker EE, Lombès A, Prigione A.

Cell Stem Cell. 2017 May 4;20(5):659-674.e9. doi: 10.1016/j.stem.2016.12.013. Epub 2017 Jan 26.


HK2 Recruitment to Phospho-BAD Prevents Its Degradation, Promoting Warburg Glycolysis by Theileria-Transformed Leukocytes.

Haidar M, Lombès A, Bouillaud F, Kennedy EJ, Langsley G.

ACS Infect Dis. 2017 Mar 10;3(3):216-224. doi: 10.1021/acsinfecdis.6b00180. Epub 2017 Jan 24.


Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.

Fayssoil A, Laforêt P, Bougouin W, Jardel C, Lombès A, Bécane HM, Berber N, Stojkovic T, Béhin A, Eymard B, Duboc D, Wahbi K.

Eur J Neurol. 2017 Feb;24(2):255-261. doi: 10.1111/ene.13176. Epub 2016 Nov 21.


QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.

Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M.

Elife. 2016 Sep 13;5. pii: e17163. doi: 10.7554/eLife.17163.


Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

Kremer LS, L'hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A.

J Hepatol. 2016 Aug;65(2):377-85. doi: 10.1016/j.jhep.2016.04.017. Epub 2016 May 2.


[Pathophysiology of human mitochondrial diseases].

Lombès A, Auré K, Jardel C.

Biol Aujourdhui. 2015;209(2):125-32. doi: 10.1051/jbio/2015014. Epub 2015 Oct 29. Review. French.


Effects of Lon protease down-regulation on the mitochondrial function and proteome.

Hamon MP, Bayot A, Gareil M, Chavatte L, Lombès A, Friguet B, Bulteau AL.

Free Radic Biol Med. 2014 Oct;75 Suppl 1:S32-3. doi: 10.1016/j.freeradbiomed.2014.10.767. Epub 2014 Dec 10.


Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

Wahbi K, Bougouin W, Béhin A, Stojkovic T, Bécane HM, Jardel C, Berber N, Mochel F, Lombès A, Eymard B, Duboc D, Laforêt P.

Eur Heart J. 2015 Nov 7;36(42):2886-93. doi: 10.1093/eurheartj/ehv307. Epub 2015 Jul 29.


Ly6Chigh Monocytes Protect against Kidney Damage during Sepsis via a CX3CR1-Dependent Adhesion Mechanism.

Chousterman BG, Boissonnas A, Poupel L, Baudesson de Chanville C, Adam J, Tabibzadeh N, Licata F, Lukaszewicz AC, Lombès A, Deterre P, Payen D, Combadière C.

J Am Soc Nephrol. 2016 Mar;27(3):792-803. doi: 10.1681/ASN.2015010009. Epub 2015 Jul 9.


Adaptive Immune-like γ/δ T Lymphocytes Share Many Common Features with Their α/β T Cell Counterparts.

Lombes A, Durand A, Charvet C, Rivière M, Bonilla N, Auffray C, Lucas B, Martin B.

J Immunol. 2015 Aug 15;195(4):1449-58. doi: 10.4049/jimmunol.1500375. Epub 2015 Jun 29.


HIF-1α induction, proliferation and glycolysis of Theileria-infected leukocytes.

Metheni M, Lombès A, Bouillaud F, Batteux F, Langsley G.

Cell Microbiol. 2015 Apr;17(4):467-72. doi: 10.1111/cmi.12421. Epub 2015 Feb 26. Review.


A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.

Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11.


Tissue- and cell-specific mitochondrial defect in Parkin-deficient mice.

Damiano M, Gautier CA, Bulteau AL, Ferrando-Miguel R, Gouarne C, Paoli MG, Pruss R, Auchère F, L'Hermitte-Stead C, Bouillaud F, Brice A, Corti O, Lombès A.

PLoS One. 2014 Jun 24;9(6):e99898. doi: 10.1371/journal.pone.0099898. eCollection 2014.


Oxidation of hydrogen sulfide by human liver mitochondria.

Helmy N, Prip-Buus C, Vons C, Lenoir V, Abou-Hamdan A, Guedouari-Bounihi H, Lombès A, Bouillaud F.

Nitric Oxide. 2014 Sep 15;41:105-12. doi: 10.1016/j.niox.2014.05.011. Epub 2014 Jun 11.


Functional interplay between Parkin and Drp1 in mitochondrial fission and clearance.

Buhlman L, Damiano M, Bertolin G, Ferrando-Miguel R, Lombès A, Brice A, Corti O.

Biochim Biophys Acta. 2014 Sep;1843(9):2012-26. doi: 10.1016/j.bbamcr.2014.05.012. Epub 2014 May 27.


Mitochondrial retrograde signaling mediated by UCP2 inhibits cancer cell proliferation and tumorigenesis.

Esteves P, Pecqueur C, Ransy C, Esnous C, Lenoir V, Bouillaud F, Bulteau AL, Lombès A, Prip-Buus C, Ricquier D, Alves-Guerra MC.

Cancer Res. 2014 Jul 15;74(14):3971-82. doi: 10.1158/0008-5472.CAN-13-3383. Epub 2014 May 22.


Nitroso-redox balance and mitochondrial homeostasis are regulated by STOX1, a pre-eclampsia-associated gene.

Doridot L, Châtre L, Ducat A, Vilotte JL, Lombès A, Méhats C, Barbaux S, Calicchio R, Ricchetti M, Vaiman D.

Antioxid Redox Signal. 2014 Aug 20;21(6):819-34. doi: 10.1089/ars.2013.5661. Epub 2014 Jun 20.


Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.

Fraidakis MJ, Jardel C, Allouche S, Nelson I, Auré K, Slama A, Lemière I, Thenint JP, Hamon JB, Zagnoli F, Heron D, Sedel F, Lombès A.

Mitochondrion. 2014 Mar;15:34-9. doi: 10.1016/j.mito.2014.03.010. Epub 2014 Mar 29.


Effect of Lon protease knockdown on mitochondrial function in HeLa cells.

Bayot A, Gareil M, Chavatte L, Hamon MP, L'Hermitte-Stead C, Beaumatin F, Priault M, Rustin P, Lombès A, Friguet B, Bulteau AL.

Biochimie. 2014 May;100:38-47. doi: 10.1016/j.biochi.2013.12.005. Epub 2013 Dec 17.


Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A.

Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23.


The TOMM machinery is a molecular switch in PINK1 and PARK2/PARKIN-dependent mitochondrial clearance.

Bertolin G, Ferrando-Miguel R, Jacoupy M, Traver S, Grenier K, Greene AW, Dauphin A, Waharte F, Bayot A, Salamero J, Lombès A, Bulteau AL, Fon EA, Brice A, Corti O.

Autophagy. 2013 Nov 1;9(11):1801-17. doi: 10.4161/auto.25884. Epub 2013 Sep 5.


Unsolved issues related to human mitochondrial diseases.

Lombès A, Auré K, Bellanné-Chantelot C, Gilleron M, Jardel C.

Biochimie. 2014 May;100:171-6. doi: 10.1016/j.biochi.2013.08.012. Epub 2013 Aug 20. Review.


Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P.

Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1.


Probenecid potentiates MPTP/MPP+ toxicity by interference with cellular energy metabolism.

Alvarez-Fischer D, Noelker C, Grünewald A, Vulinović F, Guerreiro S, Fuchs J, Lu L, Lombès A, Hirsch EC, Oertel WH, Michel PP, Hartmann A.

J Neurochem. 2013 Dec;127(6):782-92. doi: 10.1111/jnc.12343. Epub 2013 Jul 8.


Mitotane alters mitochondrial respiratory chain activity by inducing cytochrome c oxidase defect in human adrenocortical cells.

Hescot S, Slama A, Lombès A, Paci A, Remy H, Leboulleux S, Chadarevian R, Trabado S, Amazit L, Young J, Baudin E, Lombès M.

Endocr Relat Cancer. 2013 May 21;20(3):371-81. doi: 10.1530/ERC-12-0368. Print 2013 Jun.


What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.


High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation.

Malfatti E, Laforêt P, Jardel C, Stojkovic T, Behin A, Eymard B, Lombès A, Benmalek A, Bécane HM, Berber N, Meune C, Duboc D, Wahbi K.

Neurology. 2013 Jan 1;80(1):100-5. doi: 10.1212/WNL.0b013e31827b1a2f. Epub 2012 Dec 12.


Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome.

Comte C, Tonin Y, Heckel-Mager AM, Boucheham A, Smirnov A, Auré K, Lombès A, Martin RP, Entelis N, Tarassov I.

Nucleic Acids Res. 2013 Jan 7;41(1):418-33. doi: 10.1093/nar/gks965. Epub 2012 Oct 18.


Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.

Agier V, Oliviero P, Lainé J, L'Hermitte-Stead C, Girard S, Fillaut S, Jardel C, Bouillaud F, Bulteau AL, Lombès A.

Biochim Biophys Acta. 2012 Oct;1822(10):1570-80. doi: 10.1016/j.bbadis.2012.07.002. Epub 2012 Jul 16.

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