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SavePrimary mitochondrial disorders and mimics: Insights from a large French cohort
Rouzier, Cecile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Celine; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valerie; Gueguen, Naig; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurelien; Hardy, Gaelle; Allouche, Stephane; Acquaviva-Bourdain, Cecile; Pagan, Cecile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Veronique; Procaccio, Vincent Share Save Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCafournet, Cerane; Zanin, Sofia; Guimier, Anne; Hully, Marie; Assouline, Zahra; Barcia, Giulia; de Lonlay, Pascale; Steffann, Julie; Munnich, Arnold; Bonnefont, Jean-Paul; Rotig, Agnes; Ruzzenente, Benedetta; Metodiev, Metodi D. Share Save Share Save Share Save A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersSteffann, Julie; Monnot, Sophie; Magen, Maryse; Assouline, Zahra; Gigarel, Nadine; Ville, Yves; Salomon, Laurent; Bessiere, Bettina; Martinovic, Jelena; Rotig, Agnes; Bengoa, Joana; Borghese, Roxana; Munnich, Arnold; Barcia, Giulia; Bonnefont, Jean-Paul Share Save Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalBarcia, Giulia; Rio, Marlene; Assouline, Zahra; Zangarelli, Coralie; Roux, Charles-Joris; de Lonlay, Pascale; Steffann, Julie; Desguerre, Isabelle; Munnich, Arnold; Bonnefont, Jean-Paul; Boddaert, Nathalie; Rotig, Agnes; Metodiev, Metodi D.; Ruzzenente, Benedetta Share Save Epilepsy with migrating focal seizures KCNT1 mutation hotspots and phenotype variabilityBarcia, Giulia; Chemaly, Nicole; Kuchenbuch, Mathieu; Eisermann, Monika; Gobin-Limballe, Stephanie; Ciorna, Viorica; Macaya, Alfons; Lambert, Laetitia; Dubois, Fanny; Doummar, Diane; Billette, Thierry; Villeneuve, Nathalie; Barthez, Marie-Anne; Nava, Caroline; Boddaert, Nathalie; Kaminska, Anna; Bahi-Buisson, Nadia; Milh, Mathieu; Auvin, Stephane; Bonnefont, Jean-Paul; Nabbout, Rima Share Save Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutationsBarcia, Giulia; Rio, Marlene; Assouline, Zahra; Zangarelli, Coralie; Gueguen, Naig; Dumas, Valerie D.; Marcorelles, Pascale; Schiff, Manuel; Slama, Abdelhamid; Barth, Magalie; Hully, Marie; de Lonlay, Pascale; Munnich, Arnold; Desguerre, Isabelle; Bonnefont, Jean-Paul; Steffann, Julie; Procaccio, Vincent; Boddaert, Nathalie; Rotig, Agnes; Metodiev, Metodi D.; Ruzzenente, Benedetta Share Save Share Save Searching for secondary findings: considering actionability and preserving the right not to knowIsidor, Bertrand; Julia, Sophie; Saugier-Veber, Pascale; Weil-Dubuc, Paul-Loup; Bezieau, Stephane; Bieth, Eric; Bonnefont, Jean-Paul; Munnich, Arnold; Bourdeaut, Franck; Bourgain, Catherine; Chassaing, Nicolas; Corradini, Nadege; Haye, Damien; Plaisancie, Julie; Dupin-Deguine, Delphine; Calvas, Patrick; Mignot, Cyril; Cogne, Benjamin; Manouvrier, Sylvie; Pasquier, Laurent; Heron, Delphine; Boycott, Kym M.; Turrini, Mauro; Vears, Danya F.; Nizon, Mathilde; Vincent, Marie Share Save Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMiguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima Share Save High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyde Beaurepaire, Isaure; Grevent, David; Rio, Marlene; Desguerre, Isabelle; de Lonlay, Pascale; Levy, Raphael; Dangouloff-Ros, Volodia; Bonnefont, Jean-Paul; Barcia, Giulia; Funalot, Benoit; Besmond, Claude; Metodiev, Metodi D.; Ruzzenente, Benedetta; Assouline, Zahra; Munnich, Arnold; Rotig, Agnes; Boddaert, Nathalie Share Save Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarumWeiss, Nicolas; Mochel, Fanny; Rudler, Marika; Demeret, Sophie; Lebray, Pascal; Conti, Filomena; Galanaud, Damien; Ottolenghi, Chris; Bonnefont, Jean-Paul; Dommergues, Marc; Bernuau, Jacques; Thabut, Dominique Share Save Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmentiBal, Elodie; Laplantine, Emmanuel; Hamel, Yamina; Dubosclard, Virginie; Boisson, Bertrand; Pescatore, Alessandra; Picard, Capucine; Hadj-Rabia, Smail; Royer, Ghislaine; Steffann, Julie; Bonnefont, Jean-Paul; Ursini, Valeria M.; Vabres, Pierre; Munnich, Arnold; Casanova, Jean-Laurent; Bodemer, Christine; Weil, Robert; Agou, Fabrice; Smahi, Asma Share Save Keratotic follicular plugs with calcifications in Conradi-Hunermann-Happle syndrome: histological, biochemical and genetic testing correlationLeclerc-Mercier, S.; Dufernez, F.; Fraitag, S.; Coulombe, J.; Dompmartin, A.; Barreau, M.; Bozon, D.; Lamaziere, A.; Bonnefont, J. -P.; Khalifa, E.; Bodemer, C.; Hadj-Rabia, S. Share Save Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeGordon, Christopher T.; Vuillot, Alice; Marlin, Sandrine; Gerkes, Erica; Henderson, Alex; AlKindy, Adila; Holder-Espinasse, Muriel; Park, Sarah S.; Omarjee, Asma; Sanchis-Borja, Mateo; Ben Bdira, Eya; Oufadem, Myriam; Sikkema-Raddatz, Birgit; Stewart, Alison; Palmer, Rodger; McGowan, Ruth; Petit, Florence; Delobel, Bruno; Speicher, Michael R.; Aurora, Paul; Kilner, David; Pellerin, Philippe; Simon, Marie; Bonnefont, Jean-Paul; Tobias, Edward S.; Garcia-Minaur, Sixto; Bitner-Glindzicz, Maria; Lindholm, Pernille; Meijer, Brigitte A.; Abadie, Veronique; Denoyelle, Francoise; Vazquez, Marie-Paule; Rotky-Fast, Christa; Couloigner, Vincent; Pierrot, Sebastien; Manach, Yves; Breton, Sylvain; Hendriks, Yvonne M. C.; Munnich, Arnold; Jakobsen, Linda; Kroisel, Peter; Lin, Angela; Kaban, Leonard B.; Basel-Vanagaite, Lina; Wilson, Louise; Cunningham, Michael L.; Lyonnet, Stanislas; Amiel, Jeanne Share Save Alterations of the IKBKG locus and diseases: An update and a report of 13 novel mutationsFusco, Francesca; Pescatore, Alessandra; Bal, Elodie; Ghoul, Aida; Paciolla, Mariateresa; Lioi, Maria Brigida; D'Urso, Michele; Rabia, Smail Hadj; Bodemer, Christine; Bonnefont, Jean Paul; Munnich, Arnold; Miano, Maria Giuseppina; Smahi, Asma; Ursini, Matilde Valeria Share Save Share Save Share Save 
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