Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer’s disease models and human brains von Vaillant-Beuchot, Loan, Mary, Arnaud, Pardossi-Piquard, Raphaëlle, Bourgeois, Alexandre, Lauritzen, Inger, Eysert, Fanny, Kinoshita, Paula Fernanda, Cazareth, Julie, Badot, Céline, Fragaki, Konstantina, Bussiere, Renaud, Martin, Cécile, Mary, Rosanna, Bauer, Charlotte, Pagnotta, Sophie, Paquis-Flucklinger, Véronique, Buée-Scherrer, Valérie, Buée, Luc, Lacas-Gervais, Sandra, Checler, Frédéric, Chami, Mounia

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement von BANNWARTH, Sylvie, AIT-EL-MKADEM, Samira, VERSCHUEREN, Annie, ROUZIER, Cecile, LE BER, Isabelle, AUGE, Gaëlle, COCHAUD, Charlotte, LESPINASSE, Françoise, N'GUYEN, Karine, DE SEPTENVILLE, Anne, BRICE, Alexis, YU-WAI-MAN, Patrick, CHAUSSENOT, Annabelle, SESAKI, Hiromi, POUGET, Jean, PAQUIS-FLUCKLINGER, Véronique, GENIN, Emmanuelle C, LACAS-GERVAIS, Sandra, FRAGAKI, Konstantina, BERG-ALONSO, Laetitia, KAGEYAMA, Yusuke, SERRE, Valérie, MOORE, David G

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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype cor... von Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, Bellescize, Julietta, Villard, Laurent, Saint Martin, Anne, Milh, Mathieu

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A Survey of Autoencoder Algorithms to Pave the Diagnosis of Rare Diseases von Pratella, David, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, Paquis-Fluckinger, Véronique, Bottini, Silvia

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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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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis von Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy von Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

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NDUFS6 related Leigh syndrome: a case report and review of the literature von Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, Bannwarth, Sylvie

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders von Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique

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Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10 von Goizet, Cyril, Boukhris, Amir, Mundwiller, Emeline, Tallaksen, Chantal, Forlani, Sylvie, Toutain, Annick, Carriere, Nathalie, Paquis, Véronique, Depienne, Christel, Durr, Alexandra, Stevanin, Giovanni, Brice, Alexis

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Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients von Hoornaert, Kristien P, Vereecke, Inge, Dewinter, Chantal, Rosenberg, Thomas, Beemer, Frits A, Leroy, Jules G, Bendix, Laila, Björck, Erik, Bonduelle, Maryse, Boute, Odile, Cormier-Daire, Valerie, De Die-Smulders, Christine, Dieux-Coeslier, Anne, Dollfus, Hélène, Elting, Mariet, Green, Andrew, Guerci, Veronica I, Hennekam, Raoul C M, Hilhorts-Hofstee, Yvonne, Holder, Muriel, Hoyng, Carel, Jones, Kristi J, Josifova, Dragana, Kaitila, Ilkka, Kjaergaard, Suzanne, Kroes, Yolande H, Lagerstedt, Kristina, Lees, Melissa, LeMerrer, Martine, Magnani, Cinzia, Marcelis, Carlo, Martorell, Loreto, Mathieu, Michèle, McEntagart, Meriel, Mendicino, Angela, Morton, Jenny, Orazio, Gabrielli, Paquis, Véronique, Reish, Orit, Simola, Kalle O J, Smithson, Sarah F, Temple, Karen I, Van Aken, Elisabeth, Van Bever, Yolande, van den Ende, Jenneke, Van Hagen, Johanna M, Zelante, Leopoldo, Zordania, Riina, De Paepe, Anne, Leroy, Bart P, De Buyzere, Marc, Coucke, Paul J, Mortier, Geert R

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CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability von Genin, Emmanuelle C, Bannwarth, Sylvie, Ropert, Baptiste, Lespinasse, Françoise, Mauri-Crouzet, Alessandra, Augé, Gaelle, Fragaki, Konstantina, Cochaud, Charlotte, Donnarumma, Erminia, Lacas-Gervais, Sandra, Wai, Timothy, Paquis-Flucklinger, Véronique

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Neurologic features and genotype-phenotype correlation in Wolfram syndrome von Chaussenot, Annabelle, Bannwarth, Sylvie, Rouzier, Cecile, Vialettes, Bernard, Mkadem, Samira Ait El, Chabrol, Brigitte, Cano, Aline, Labauge, Pierre, Paquis-Flucklinger, Véronique

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CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia von Genin, Emmanuelle C., di Borgo, Pauline Pozzo, Lorivel, Thomas, Hugues, Sandrine, Farinelli, Mélissa, Mauri-Crouzet, Alessandra, Lespinasse, Françoise, Godin, Lucas, Paquis-Flucklinger, Véronique, Petit-Paitel, Agnès

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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, Sharp, Andrew

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Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases von Genin, Emmanuelle C., Bannwarth, Sylvie, Lespinasse, Françoise, Ortega-Vila, Bernardo, Fragaki, Konstantina, Itoh, Kie, Villa, Elodie, Lacas-Gervais, Sandra, Jokela, Manu, Auranen, Mari, Ylikallio, Emil, Mauri-Crouzet, Alessandra, Tyynismaa, Henna, Vihola, Anna, Augé, Gaelle, Cochaud, Charlotte, Sesaki, Hiromi, Ricci, Jean-Ehrland, Udd, Bjarne, Vives-Bauza, Cristofol, Paquis-Flucklinger, Véronique

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion von Bourdon, Alice, Minai, Limor, Serre, Valérie, Jais, Jean-Philippe, Sarzi, Emmanuelle, Aubert, Sophie, Chrétien, Dominique, de Lonlay, Pascale, Paquis-Flucklinger, Véronique, Arakawa, Hirofumi, Nakamura, Yusuke, Munnich, Arnold, Rötig, Agnès

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ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data von Labory, Justine, Le Bideau, Gwendal, Pratella, David, Yao, Jean-Elisée, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, El-Hami, Loubna, Paquis-Fluckinger, Véronique, Bottini, Silvia

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Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases von Zereg, Elamine, Chaussenot, Annabelle, Morel, Godelieve, Bannwarth, Sylvie, Sacconi, Sabrina, Soriani, Marie‐Hélène, Attarian, Shahram, Cano, Aline, Pouget, Jean, Bellance, Rémi, Tranchant, Christine, Lannes, Béatrice, Paula, André Maues, Saadi Ait‐El‐Mkadem, Samira, Chafino, Bernadette, Berthet, Mathieu, Fragaki, Konstantina, Paquis‐Flucklinger, Véronique, Rouzier, Cécile

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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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