Suchergebnisse - Paquis-Flucklinger, Véronique

hMSH5 is a nucleocytoplasmic shuttling protein whose stability depends on its subcellular localization von Lahaye, François, Lespinasse, Françoise, Staccini, Pascal, Palin, Lucile, Paquis-Flucklinger, Véronique, Santucci-Darmanin, Sabine

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A Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness von Bannwarth, Sylvie, Abbassi, Meriame, Valéro, René, Fragaki, Konstantina, Dubois, Noémie, Vialettes, Bernard, Paquis-Flucklinger, Véronique

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Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives von Labory, Justine, Fierville, Morgane, Ait-El-Mkadem, Samira, Bannwarth, Sylvie, Paquis-Flucklinger, Véronique, Bottini, Silvia

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NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework von Duboc, Véronique, Pratella, David, Milanesio, Marco, Boudjarane, John, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Bottini, Silvia

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GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies von Pratella, David, Duboc, Véronique, Milanesio, Marco, Boudjarane, John, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Bottini, Silvia

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Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases von Plutino, Morgane, Chaussenot, Annabelle, Rouzier, Cécile, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

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MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles von Chaussenot, Annabelle, Rouzier, Cécile, Fragaki, Konstantina, Sacconi, Sabrina, Ait-El-Mkadem, Samira, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

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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 von Fragaki, Konstantina, Chaussenot, Annabelle, Serre, Valerie, Acquaviva, Cecile, Bannwarth, Sylvie, Rouzier, Cecile, Chabrol, Brigitte, Paquis-Flucklinger, Veronique

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Cardiac dyspnea risk zones in the South of France identified by geo-pollution trends study von Simões, Fanny, Bouveyron, Charles, Piga, Damien, Borel, Damien, Descombes, Stéphane, Paquis-Flucklinger, Véronique, Levraut, Jaques, Gibelin, Pierre, Bottini, Silvia

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TDP-43 and PINK1 mediate CHCHD10(S59L) mutation–induced defects in Drosophila and in vitro von Baek, Minwoo, Choe, Yun-Jeong, Bannwarth, Sylvie, Kim, JiHye, Maitra, Swati, Dorn, Gerald W., Taylor, J. Paul, Paquis-Flucklinger, Veronique, Kim, Nam Chul

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Author Correction: TDP-43 and PINK1 mediate CHCHD10(S59L) mutation–induced defects in Drosophila and in vitro von Baek, Minwoo, Choe, Yun-Jeong, Bannwarth, Sylvie, Kim, JiHye, Maitra, Swati, Dorn, Gerald W., Taylor, J. Paul, Paquis-Flucklinger, Veronique, Kim, Nam Chul

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Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France von Suard, Cornélie, Flori, Audrey, Paoli, Florent, Loundou, Anderson, Fouilloux, Virginie, Sigaudy, Sabine, Michel, Fabrice, Antomarchi, Julie, Moceri, Pamela, Paquis-Flucklinger, Véronique, D’Ercole, Claude, Bretelle, Florence

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Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency von Fragaki, Konstantina, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Gire, Catherine, Mengual, Raymond, Bonesso, Laurent, Bénéteau, Marie, Ricci, Jean-Ehrland, Desquiret-Dumas, Valérie, Procaccio, Vincent, Rötig, Agnès, Paquis-Flucklinger, Véronique

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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca(2+) homeostasis and ER-mitochondria interactions von Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, Martin, Yu-Wai-Man, Patrick, Paquis-Flucklinger, Véronique

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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca(2+) homeostasis and ER-mitochondria interactions von Rouzier, Cécile, Moore, David, Delorme, Cécile, Lacas-Gervais, Sandra, Ait-El-Mkadem, Samira, Fragaki, Konstantina, Burté, Florence, Serre, Valérie, Bannwarth, Sylvie, Chaussenot, Annabelle, Catala, Martin, Yu-Wai-Man, Patrick, Paquis-Flucklinger, Véronique

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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome von Farmer, Amy, Aymé, Ségolène, de Heredia, Miguel Lopez, Maffei, Pietro, McCafferty, Susan, Młynarski, Wojciech, Nunes, Virginia, Parkinson, Kay, Paquis-Flucklinger, Véronique, Rohayem, Julia, Sinnott, Richard, Tillmann, Vallo, Tranebjærg, Lisbeth, Barrett, Timothy G

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Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance von Belmonte, Frances R., Dedousis, Nikolaos, Sipula, Ian, Desai, Nikita A., Singhi, Aatur D., Chu, Yanxia, Zhang, Yingze, Bannwarth, Sylvie, Paquis-Flucklinger, Véronique, Harrington, Lea, Shiva, Sruti, Jurczak, Michael J., O’Doherty, Robert M., Kaufman, Brett A.

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Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice von Bannwarth, Sylvie, Berg-Alonso, Laetitia, Augé, Gaëlle, Fragaki, Konstantina, Kolesar, Jill E., Lespinasse, Françoise, Lacas-Gervais, Sandra, Burel-Vandenbos, Fanny, Villa, Elodie, Belmonte, Frances, Michiels, Jean-François, Ricci, Jean-Ehrland, Gherardi, Romain, Harrington, Lea, Kaufman, Brett A., Paquis-Flucklinger, Véronique

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Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations von Nishigaki, Yutaka, Ueno, Hitomi, Coku, Jorida, Koga, Yasutoshi, Fujii, Tatsuya, Sahashi, Ko, Nakano, Kazutoshi, Yoneda, Makoto, Nonaka, Michiko, Tang, Linya, Liou, Chia-Wei, Paquis-Flucklinger, Veronique, Harigaya, Yasuo, Ibi, Tohru, Goto, Yu-ichi, Hosoya, Hiroko, DiMauro, Salvatore, Hirano, Michio, Tanaka, Masashi

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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort von Rouzier, Cécile, Chaussenot, Annabelle, Serre, Valérie, Fragaki, Konstantina, Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Attarian, Shahram, Kaphan, Elsa, Cano, Aline, Delmont, Emilien, Sacconi, Sabrina, de Camaret, Bénédicte Mousson, Rio, Marlène, Lebre, Anne-Sophie, Jardel, Claude, Deschamps, Romain, Richelme, Christian, Pouget, Jean, Chabrol, Brigitte, Paquis-Flucklinger, Véronique

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