Publications
 

Genetics of mitochondrial diseases

Véronique PAQUIS-FLUCKLINGER, Professor-Clinician, PU-PHCE
 
  • [Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]

    Rucheton B, Ader F, Goudenege D, Filaut S, Legrand L, Bloch A, MitoDiag R, Fressart V, Bonnefont-Rousselot D, Mochel F, Lamari F, Richard P, Procaccio V, Bannwarth S.

    Ann Biol Clin (Paris). 2021 Feb 1;79(1):28-40. doi: 10.1684/abc.2021.1621.

    PMID: 33586649

  • TDP-43 and PINK1 mediate CHCHD10 S59L mutation-induced defects in Drosophila and in vitro

    Baek M, Choe YJ, Bannwarth S, Kim J, Maitra S, Dorn GW 2nd, Taylor JP, Paquis-Flucklinger V, Kim NC.

    Nat Commun. 2021 Mar 26;12(1):1924. doi: 10.1038/s41467-021-22145-9.

    PMID: 33772006

  • Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

    Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V.

    Genet Med. 2021 May 26. doi: 10.1038/s41436-021-01206-w. Online ahead of print.

    PMID: 34040194

  • Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)

    Rouzier C, Chaussenot A, Paquis-Flucklinger V.

    Arch Pediatr. 2020 Dec;27(7S):7S9-7S14. doi: 10.1016/S0929-693X(20)30270-0.

    PMID: 33357600 

  • Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains

    Vaillant-Beuchot L, Mary A, Pardossi-Piquard R, Bourgeois A, Lauritzen I, Eysert F, Kinoshita PF, Cazareth J, Badot C, Fragaki K, Bussiere R, Martin C, Mary R, Bauer C, Pagnotta S, Paquis-Flucklinger V, Buée-Scherrer V, Buée L, Lacas-Gervais S, Checler F, Chami M.

    Acta Neuropathol. 2021 Jan;141(1):39-65. doi: 10.1007/s00401-020-02234-7. Epub 2020 Oct 20.

    PMID: 33079262 

  • Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives

    Labory J, Fierville M, Ait-El-Mkadem S, Bannwarth S, Paquis-Flucklinger V, Bottini S.

    Front Mol Biosci. 2020 Nov 2;7:590842. doi: 10.3389/fmolb.2020.590842. eCollection 2020.

    PMID: 33240932

  • Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations

    Decoux-Poullot AG, Bannwarth S, Procaccio V, Lebre AS, Jardel C, Vialettes B, Paquis-Flucklinger V, Chevalier N.

    Ann Endocrinol (Paris). 2020 Jun;81(2-3):68-77. doi: 10.1016/j.ando.2020.04.007. Epub 2020 Apr 28.

    PMID: 32409007

  • Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases

    Zereg E, Chaussenot A, Morel G, Bannwarth S, Sacconi S, Soriani MH, Attarian S, Cano A, Pouget J, Bellance R, Tranchant C, Lannes B, de Paula AM, Saadi Ait-El-Mkadem S, Chafino B, Berthet M, Fragaki K, Paquis-Flucklinger V, Rouzier C.

    Hum Mutat. 2020 Aug;41(8):1394-1406. doi: 10.1002/humu.24037. Epub 2020 Jun 12.

    PMID: 32419253

  • Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France

    Suard C, Flori A, Paoli F, Loundou A, Fouilloux V, Sigaudy S, Michel F, Antomarchi J, Moceri P, Paquis-Flucklinger V, D'Ercole C, Bretelle F.

    PLoS One. 2020 Oct 5;15(10):e0239476. doi: 10.1371/journal.pone.0239476. eCollection 2020.

    PMID: 33017437

     

  • GAPDH Expression Predicts the Response to R-CHOP, the Tumor Metabolic Status, and the Response of DLBCL Patients to Metabolic Inhibitors

    Chiche J, Reverso-Meinietti J, Mouchotte A, Rubio-Patiño C, Mhaidly R, Villa E, Bossowski JP, Proics E, Grima-Reyes M, Paquet A, Fragaki K, Marchetti S, Briere J, Ambrosetti D, Michiels JF, Molina TJ, Copie-Bergman C, Lehmann-Che J, Peyrottes I, Peyrade F, de Kerviler E, Taillan B, Garnier G, Verhoeyen E, Paquis-Flucklinger V, Shintu L, Delwail V, Delpech-Debiais C, Delarue R, Bosly A, Petrella T, Brisou G, Nadel B, Barbry P, Mounier N, Thieblemont C, Ricci JE.

    Cell Metab. 2019 Jun 4;29(6):1243-1257.e10. 

    PMID: 30827861
  • eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

    Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V.

    Genet Med. 2019 Jun;21(6):1407-1416. 

    PMID: 30393377
  • NDUFS6 related Leigh syndrome: a case report and review of the literature

    Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S.

    J Hum Genet. 2019 Jul;64(7):637-645. doi: 10.1038/s10038-019-0594-4. Epub 2019 Apr 4.

    PMID: 30948790
  • Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse

    Genin EC, Madji Hounoum B, Bannwarth S, Fragaki K, Lacas-Gervais S, Mauri-Crouzet A, Lespinasse F, Neveu J, Ropert B, Augé G, Cochaud C, Lefebvre-Omar C, Bigou S, Chiot A, Mochel F, Boillée S, Lobsiger CS, Bohl D, Ricci JE, Paquis-Flucklinger V.

    Acta Neuropathol. 2019 Jul;138(1):123-145.

    PMID: 30874923
  • Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance

    Belmonte FR, Dedousis N, Sipula I, Desai NA, Singhi AD, Chu Y, Zhang Y, Bannwarth S, Paquis-Flucklinger V, Harrington L, Shiva S, Jurczak MJ, O'Doherty RM, Kaufman BA.

    PLoS One. 2019 May 28;14(5):e0203101. doi: 10.1371/journal.pone.0203101. eCollection 2019.

    PMID: 31136580

  • The OncoAge Consortium: Linking Aging and Oncology from Bench to Bedside and Back Again

    Hofman P, Ayache N, Barbry P, Barlaud M, Bel A, Blancou P, Checler F, Chevillard S, Cristofari G, Demory M, Esnault V, Falandry C, Gilson E, Guérin O, Glaichenhaus N, Guigay J, Ilié M, Mari B, Marquette CH, Paquis-Flucklinger V, Prate F, Saintigny P, Seitz-Polsky B, Skhiri T, Van Obberghen-Schilling E, Van Obberghen E, Yvan-Charvet L.

    Cancers (Basel). 2019 Feb 21;11(2). pii: E250. doi: 10.3390/cancers11020250.

    PMID: 30795607

  • Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

    Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D.

    J Med Genet. 2019 Aug;56(8):526-535

    PMID: 30923172
  • A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

    Fragaki K, Chaussenot A, Serre V, Acquaviva C, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

    Mol Genet Metab Rep. 2019 Nov 21;21:100543. doi: 10.1016/j.ymgmr.2019.100543. eCollection 2019 Dec.

    PMID: 31788426

  • eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

    Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V.

    Genet Med. 2018 Nov 5. doi: 10.1038/s41436-018-0350-8.

    PMID: 30393377 

  • 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.

    PMID: 30318261

  • Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

    Genin EC, Bannwarth S, Lespinasse F, Ortega-Vila B, Fragaki K, Itoh K, Villa E, Lacas-Gervais S, Jokela M, Auranen M, Ylikallio E, Mauri-Crouzet A, Tyynismaa H, Vihola A, Augé G, Cochaud C, Sesaki H, Ricci JE, Udd B, Vives-Bauza C, Paquis-Flucklinger V.

    Neurobiol Dis. 2018 Nov;119:159-171. doi: 10.1016/j.nbd.2018.07.027. Epub 2018 Aug 6.

    PMID: 30092269
  • MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

    Chaussenot A, Rouzier C, Fragaki K, Sacconi S, Ait-El-Mkadem S, Paquis-Flucklinger V, Bannwarth S.

    Neurol Genet. 2018 Sep 19;4(5):e268.

    PMID: 30294674
     

     

  • Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

    Plutino M, Chaussenot A, Rouzier C, Ait-El-Mkadem S, Fragaki K, Paquis-Flucklinger V, Bannwarth S.

    BMC Med Genet. 2018 Apr 7;19(1):57.

    PMID: 29625556
     

     

  • Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG.

    Hum Mutat. 2017 Jul;38(7):764-777.

    PMID: 28432734 

  • A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions

    Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V.

    Hum Mol Genet. 2017 May 1;26(9):1599-1611.

    PMID: 28335035

  • Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

    Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V.

    Am J Hum Genet. 2017 Jan 5;100(1):151-159.

    PMID: 27989324

  • Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation

    Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Rouzier C, Chabrol B, Paquis-Flucklinger V.

    Mol Genet Metab. 2017 Jul;121(3):224-226.

    PMID: 28529009

  • Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9-deficient mild myopathy

    Fragaki K, Chaussenot A, Boutron A, Bannwarth S, Cochaud C, Richelme C, Sacconi S, Paquis-Flucklinger V.

    Muscle Nerve. 2017 Jun;55(6):919-922. 

    PMID: 27438479
  • CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

    Genin EC, Plutino M, Bannwarth S, Villa E, Cisneros-Barroso E, Roy M, Ortega-Vila B, Fragaki K, Lespinasse F, Pinero-Martos E, Augé G, Moore D, Burté F, Lacas-Gervais S, Kageyama Y, Itoh K, Yu-Wai-Man P, Sesaki H, Ricci JE, Vives-Bauza C, Paquis-Flucklinger V.

    EMBO Mol Med. 2016 Jan 1;8(1):58-72. 

    PMID: 26666268
     

     

  • Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

    Fragaki K, Chaussenot A, Benoist JF, Ait-El-Mkadem S, Bannwarth S, Rouzier C, Cochaud C, Paquis-Flucklinger V.

    Biol Res. 2016 Jan 8;49:4. 

    PMID: 26742794
  • Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2016 Apr;139(Pt 4):e22. 

    PMID: 26719380
     

     

  • Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice

    Bannwarth S, Berg-Alonso L, Augé G, Fragaki K, Kolesar JE, Lespinasse F, Lacas-Gervais S, Burel-Vandenbos F, Villa E, Belmonte F, Michiels JF, Ricci JE, Gherardi R, Harrington L, Kaufman BA, Paquis-Flucklinger V.

    Mitochondrion. 2016 Sep;30:126-37. 

    PMID: 26923168
     

     

  • A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers

    Morel G, Bannwarth S, Chaussenot A, Cano A, Fragaki K, Ait-El-Mkadem S, Rouzier C, De Paula AM, Chabrol B, Paquis-Flucklinger V.

    Neuromuscul Disord. 2016 Dec;26(12):885-889. 

    PMID: 27816331
  • Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2015 Aug;138(Pt 8):e373.

    PMID: 25576309 

  • CHCHD10-Related Disorders

    Ait-El-Mkadem S, Chaussenot A, Bannwarth S, Rouzier C, Paquis-Flucklinger V.

    In: Adam MPArdinger HHPagon RAWallace SEBean LJHStephens KAmemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2015 Jul 1.

    PMID: 26131548

  • De novo 4q duplication/deletion in a fetus with a congenital heart defect

    Dayem-Quere M, Giuliano F, Massol C, Piche M, Paquis-Flucklinger V, Karmous-Benailly H.

    Am J Med Genet A. 2015 Aug;167A(8):1932-6.

    PMID: 26097191

  • Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome

    Plutino M, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Rouzier C, Augé G, Sacconi S, Pouget J, Paquis-Flucklinger V.

    J Neurol Sci. 2015 Apr 15;351(1-2):196-197.

    PMID: 25732802 

  • Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2015 Oct;138(Pt 10):e386. 

    PMID: 25953779

  • Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2015 Sep;138(Pt 9):e377

    PMID: 25681413 

  • CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy

    Morel G, Rouzier C, Chaussenot A, Ait-El-Mkadem S, Bannwarth S, Genin EC, Augé G, Chabrol B, Pouget J, Soriani MH, Sacconi S, Paquis-Flucklinger V.

    Ann Neurol. 2015 Nov;78(5):831.

    PMID: 26095063

  • Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, Chabrol B, Vialettes B, Paquis-Flucklinger V.

    Clin Genet. 2015 May;87(5):430-9.

    PMID: 24890733 

  • Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients

    Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G; French research network on FTD and FTD-ALS, Brice A, Pouget J, Paquis-Flucklinger V.

    Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. 

    PMID: 25155093 

  • An overview of neurological and neuromuscular signs in mitochondrial diseases

    Chaussenot A, Paquis-Flucklinger V.

    Rev Neurol (Paris). 2014 May;170(5):323-38.

    PMID: 24792434

  • Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2014 Dec;137(Pt 12):e310.

    PMID: 25113788

  • Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

    Rouzier C, Chaussenot A, Serre V, Fragaki K, Bannwarth S, Ait-El-Mkadem S, Attarian S, Kaphan E, Cano A, Delmont E, Sacconi S, Mousson de Camaret B, Rio M, Lebre AS, Jardel C, Deschamps R, Richelme C, Pouget J, Chabrol B, Paquis-Flucklinger V.

    Eur J Hum Genet. 2014 Apr;22(4):542-50.

    PMID: 23921535 

  • Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    2014 Dec;137(Pt 12):e312.

    PMID: 25261971

  • Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2014 Dec;137(Pt 12):e314. 

    PMID: 25348633 

  • A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

    Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore DG, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V.

    Brain. 2014 Aug;137(Pt 8):2329-45. 

    PMID: 24934289

  • Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

    Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V.

    J Med Genet. 2013 Oct;50(10):704-14.

    PMID: 23847141 

  • EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

    Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG.

    BMC Pediatr. 2013 Aug 27;13:130.

    PMID: 23981649 

  • Bladder-sphincter disorders associated with Wolfram syndrome

    Ribière C, Kaboré FA, Chaussenot A, Paquis-Flucklinger V, Lenne-Aurier K, Gaillet S, Boissier R, Karsenty G.

    Prog Urol. 2013 Jun;23(8):519-23.

    PMID: 23725582

  • Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management

    Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP.

    Ophthalmic Epidemiol. 2013;20(1):13-25.

    PMID: 23350551

  • Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

    Fragaki K, Ait-El-Mkadem S, Chaussenot A, Gire C, Mengual R, Bonesso L, Bénéteau M, Ricci JE, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-Flucklinger V.

    Eur J Hum Genet. 2013 May;21(5):528-34.

    PMID: 22990144

  • The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype
  • Epilepsy and mitochondrial diseases: retrospective study on 53 epileptic children

    Caietta E, Cano A, Halbert C, Hugonenq C, Mancini J, Milh M, Lépine A, Villeneuve N, Chaussenot A, Paquis-Flucklinger V, Chabrol B.

    Arch Pediatr. 2012 Aug;19(8):794-802. 

    PMID: 22789745

  • Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene

    Titah SM, Meunier I, Blanchet C, Lopez S, Rondouin G, Lenaers G, Amati-Bonneau P, Reynier P, Paquis-Flucklinger V, Hamel CP.

    Eur J Ophthalmol. 2012 Mar-Apr;22(2):254-8.

    PMID: 21623591

  • HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation

    Kichine E, Rozé V, Di Cristofaro J, Taulier D, Navarro A, Streichemberger E, Decarpentrie F, Metzler-Guillemain C, Lévy N, Chiaroni J, Paquis-Flucklinger V, Fellmann F, Mitchell MJ.

    Hum Reprod. 2012 Feb;27(2):615-24.

    PMID: 22158087

  • The human MSH5 (MutSHomolog 5) protein localizes to mitochondria and protects the mitochondrial genome from oxidative damage

    Bannwarth S, Figueroa A, Fragaki K, Destroismaisons L, Lacas-Gervais S, Lespinasse F, Vandenbos F, Pradelli LA, Ricci JE, Rötig A, Michiels JF, Vande Velde C, Paquis-Flucklinger V.

    Mitochondrion. 2012 Nov;12(6):654-65.

    PMID: 22917773

Research teams