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Items: 45

1.

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
2.

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. doi: 10.1007/s00401-019-01988-z. Epub 2019 Mar 14.

PMID:
30874923
3.

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. doi: 10.1016/j.cmet.2019.02.002. Epub 2019 Feb 28.

PMID:
30827861
4.

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.

PMID:
30318261
5.

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. doi: 10.1212/NXG.0000000000000268. eCollection 2018 Oct. No abstract available.

6.

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
7.

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. doi: 10.1186/s12881-018-0568-y.

8.

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. doi: 10.1016/j.ymgme.2017.05.002. Epub 2017 May 4.

PMID:
28529009
9.

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):1786. doi: 10.1093/hmg/ddx130. No abstract available.

10.

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. doi: 10.1093/hmg/ddx060. Erratum in: Hum Mol Genet. 2017 May 1;26(9):1786.

11.

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. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15.

12.

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. doi: 10.1016/j.nmd.2016.09.012. Epub 2016 Sep 16.

PMID:
27816331
13.

Targeting eIF5A Hypusination Prevents Anoxic Cell Death through Mitochondrial Silencing and Improves Kidney Transplant Outcome.

Melis N, Rubera I, Cougnon M, Giraud S, Mograbi B, Belaid A, Pisani DF, Huber SM, Lacas-Gervais S, Fragaki K, Blondeau N, Vigne P, Frelin C, Hauet T, Duranton C, Tauc M.

J Am Soc Nephrol. 2017 Mar;28(3):811-822. doi: 10.1681/ASN.2016010012. Epub 2016 Sep 9.

14.

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. doi: 10.1002/mus.25262. Epub 2017 Mar 26.

PMID:
27438479
15.

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. doi: 10.1016/j.mito.2016.02.005. Epub 2016 Feb 24.

16.

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. doi: 10.1186/s40659-015-0065-0.

17.

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. doi: 10.1093/brain/awv368. Epub 2015 Dec 30. No abstract available.

18.

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. doi: 10.15252/emmm.201505496.

19.

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. doi: 10.1093/brain/awv116. Epub 2015 May 7. No abstract available.

PMID:
25953779
20.

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. doi: 10.1093/brain/awv015. Epub 2015 Feb 12. No abstract available.

21.

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. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. No abstract available.

22.

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. doi: 10.1093/brain/awu300. Epub 2014 Oct 27. No abstract available.

23.

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.

Brain. 2014 Dec;137(Pt 12):e312. doi: 10.1093/brain/awu267. Epub 2014 Sep 26. No abstract available.

24.

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. doi: 10.1093/brain/awu228. Epub 2014 Aug 11. No abstract available.

25.

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. doi: 10.1093/brain/awu138. Epub 2014 Jun 16.

26.

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. doi: 10.1038/ejhg.2013.171. Epub 2013 Aug 7.

27.

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. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11.

28.

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. doi: 10.1038/ejhg.2012.202. Epub 2012 Sep 19.

29.

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. doi: 10.1016/j.mito.2012.07.111. Epub 2012 Aug 11.

PMID:
22917773
30.

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.

Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V, Chabrol B, Paquis-Flucklinger V.

Brain. 2012 Jan;135(Pt 1):23-34. doi: 10.1093/brain/awr323. Epub 2011 Dec 20.

PMID:
22189565
31.

A novel unstable mutation in mitochondrial DNA responsible for maternally inherited diabetes and deafness.

Bannwarth S, Abbassi M, Valéro R, Fragaki K, Dubois N, Vialettes B, Paquis-Flucklinger V.

Diabetes Care. 2011 Dec;34(12):2591-3. doi: 10.2337/dc11-1012. Epub 2011 Oct 12.

32.

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia.

Fragaki K, Cano A, Benoist JF, Rigal O, Chaussenot A, Rouzier C, Bannwarth S, Caruba C, Chabrol B, Paquis-Flucklinger V.

Mitochondrion. 2011 May;11(3):533-6. doi: 10.1016/j.mito.2011.02.002. Epub 2011 Feb 15.

PMID:
21329767
33.

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.

Rouzier C, Le Guédard-Méreuze S, Fragaki K, Serre V, Miro J, Tuffery-Giraud S, Chaussenot A, Bannwarth S, Caruba C, Ostergaard E, Pellissier JF, Richelme C, Espil C, Chabrol B, Paquis-Flucklinger V.

J Med Genet. 2010 Oct;47(10):670-6. doi: 10.1136/jmg.2009.073445. Epub 2010 Aug 7.

34.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

Fragaki K, Procaccio V, Bannwarth S, Serre V, O'Hearn S, Potluri P, Augé G, Casagrande F, Caruba C, Lambert JC, Paquis-Flucklinger V.

Mitochondrion. 2009 Sep;9(5):346-52. doi: 10.1016/j.mito.2009.06.002. Epub 2009 Jun 27.

PMID:
19563916
35.

Presence of anti-Lepp12 antibody: a marker for diagnostic and prognostic evaluation of visceral leishmaniasis.

Kumar D, Srividya G, Verma S, Singh R, Negi NS, Fragaki K, Kubar J, Salotra P.

Trans R Soc Trop Med Hyg. 2008 Feb;102(2):167-71. doi: 10.1016/j.trstmh.2007.11.003. Epub 2008 Jan 3.

PMID:
18177681
36.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V.

Mitochondrion. 2008 Mar;8(2):136-45. Epub 2007 Nov 6.

PMID:
18078792
37.

Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants.

Mosler K, Coraux C, Fragaki K, Zahm JM, Bajolet O, Bessaci-Kabouya K, Puchelle E, Abély M, Mauran P.

J Cyst Fibros. 2008 Jan;7(1):44-53. Epub 2007 Jun 5.

38.

Downregulation by a long-acting beta2-adrenergic receptor agonist and corticosteroid of Staphylococcus aureus-induced airway epithelial inflammatory mediator production.

Fragaki K, Kileztky C, Trentesaux C, Zahm JM, Bajolet O, Johnson M, Puchelle E.

Am J Physiol Lung Cell Mol Physiol. 2006 Jul;291(1):L11-8. Epub 2006 Feb 17.

39.

Leishmania proteins derived from recombinant DNA: current status and next steps.

Kubar J, Fragaki K.

Trends Parasitol. 2006 Mar;22(3):111-6. Epub 2006 Jan 30. Review.

PMID:
16446114
40.

Recombinant DNA-derived leishmania proteins: from the laboratory to the field.

Kubar J, Fragaki K.

Lancet Infect Dis. 2005 Feb;5(2):107-14. Review.

PMID:
15680780
41.

A novel Leishmania infantum nuclear phosphoprotein Lepp12 which stimulates IL1-beta synthesis in THP-1 transfectants.

Fragaki K, Ferrua B, Mograbi B, Waldispühl J, Kubar J.

BMC Microbiol. 2003 Apr 30;3:7.

42.

In vivo involvement of polymorphonuclear neutrophils in Leishmania infantum infection.

Rousseau D, Demartino S, Ferrua B, Michiels JF, Anjuère F, Fragaki K, Le Fichoux Y, Kubar J.

BMC Microbiol. 2001;1:17. Epub 2001 Aug 17.

43.

Sustained parasite burden in the spleen of Leishmania infantum-infected BALB/c mice is accompanied by expression of MCP-1 transcripts and lack of protection against challenge.

Rousseau D, Demartino S, Anjuère F, Ferrua B, Fragaki K, Le Fichoux Y, Kubar J.

Eur Cytokine Netw. 2001 Apr-Jun;12(2):340-7.

44.

Immunisation with DNA encoding Leishmania infantum protein papLe22 decreases the frequency of parasitemic episodes in infected hamsters.

Fragaki K, Suffia I, Ferrua B, Rousseau D, Le Fichoux Y, Kubar J.

Vaccine. 2001 Feb 8;19(13-14):1701-9.

PMID:
11166894
45.

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