Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
Rice, Gillian I, Meyzer, Candice, Bouazza, Naïm, Hully, Marie, Boddaert, Nathalie, Semeraro, Michaela, Zeef, Leo A.H, Rozenberg, Flore, Bondet, Vincent, Duffy, Darragh, Llibre, Alba, Baek, Jinmi, Sambe, Mame N, Henry, Elodie, Jolaine, Valerie, Barnerias, Christine, Barth, Magalie, Belot, Alexandre, Cances, Claude, Debray, François-Guillaume, Doummar, Diane, Frémond, Marie-Louise, Kitabayashi, Naoki, Lepelley, Alice, Levrat, Virginie, Melki, Isabelle, Meyer, Pierre, Nougues, Marie-Christine, Renaldo, Florence, Rodero, Mathieu P, Rodriguez, Diana, Roubertie, Agathe, Seabra, Luis, Uggenti, Carolina, Abdoul, Hendy, Treluyer, Jean-Marc, Desguerre, Isabelle, Blanche, Stéphane, Crow, Yanick J
Published in The New England journal of medicine (06.12.2018)
Published in The New England journal of medicine (06.12.2018)
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An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
Sevin, Caroline, Barth, Magalie, Wilds, Alexandra, Afriyie, Abena, Walz, Markus, Dillon, Annamarie, Howie, Kenneth, Pang, Francis
Published in Orphanet journal of rare diseases (02.09.2022)
Published in Orphanet journal of rare diseases (02.09.2022)
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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris
Published in eLife (17.01.2023)
Published in eLife (17.01.2023)
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Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Fasano, Giulia, Muto, Valentina, Radio, Francesca Clementina, Venditti, Martina, Mosaddeghzadeh, Niloufar, Coppola, Simona, Paradisi, Graziamaria, Zara, Erika, Bazgir, Farhad, Ziegler, Alban, Chillemi, Giovanni, Bertuccini, Lucia, Tinari, Antonella, Vetro, Annalisa, Pantaleoni, Francesca, Pizzi, Simone, Conti, Libenzio Adrian, Petrini, Stefania, Bruselles, Alessandro, Prandi, Ingrid Guarnetti, Mancini, Cecilia, Chandramouli, Balasubramanian, Barth, Magalie, Bris, Céline, Milani, Donatella, Selicorni, Angelo, Macchiaiolo, Marina, Gonfiantini, Michaela V, Bartuli, Andrea, Mariani, Riccardo, Curry, Cynthia J, Guerrini, Renzo, Slavotinek, Anne, Iascone, Maria, Dallapiccola, Bruno, Ahmadian, Mohammad Reza, Lauri, Antonella, Tartaglia, Marco
Published in Nature communications (11.11.2022)
Published in Nature communications (11.11.2022)
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.05.2022)
Published in European journal of human genetics : EJHG (01.05.2022)
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ZNF668 deficiency causes a recognizable disorder of DNA damage repair
Alsaif, Hessa S., Al Ali, Hatoon, Faqeih, Eissa, Ramadan, Sahar M., Barth, Magalie, Colin, Estelle, Prouteau, Clément, Bonneau, Dominique, Ziegler, Alban, Alkuraya, Fowzan S.
Published in Human genetics (01.09.2021)
Published in Human genetics (01.09.2021)
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies
Lodi, Lorenzo, Melki, Isabelle, Bondet, Vincent, Seabra, Luis, Rice, Gillian I., Carter, Edwin, Lepelley, Alice, Martin-Niclós, Maria José, Al Adba, Buthaina, Bader-Meunier, Brigitte, Barth, Magalie, Blauwblomme, Thomas, Bodemer, Christine, Boespflug-Tanguy, Odile, Dale, Russel C., Desguerre, Isabelle, Ducrocq, Camille, Dulieu, Fabienne, Dumaine, Cécile, Ellul, Pierre, Hadchouel, Alice, Hentgen, Véronique, Hié, Miguel, Hully, Marie, Jeziorski, Eric, Lévy, Romain, Mochel, Fanny, Orcesi, Simona, Passemard, Sandrine, Pouletty, Marie, Quartier, Pierre, Renaldo, Florence, Seidl, Rainer, Shetty, Jay, Neven, Bénédicte, Blanche, Stéphane, Duffy, Darragh, Crow, Yanick J., Frémond, Marie-Louise
Published in Journal of clinical immunology (01.04.2021)
Published in Journal of clinical immunology (01.04.2021)
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Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma
Richard, Jeremy, Beauvillain, Céline, Benoit, Maxime, Barth, Magalie, Aubert, Cécile, Rolley, Cyrielle, Bellal, Sarah, Bourreau, Jennifer, Ferragu, Matthieu, Lebdai, Souhil, Chevrollier, Arnaud, Henrion, Daniel, Procaccio, Vincent, Bigot, Pierre
Published in Frontiers in endocrinology (Lausanne) (17.05.2024)
Published in Frontiers in endocrinology (Lausanne) (17.05.2024)
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Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
Pontrucher, Audrey, Barth, Magalie, Ziegler, Alban, Chao de la Barca, Juan Manuel, Mirebeau-Prunier, Delphine, Reynier, Pascal, Homedan, Chadi
Published in Frontiers in neurology (09.11.2023)
Published in Frontiers in neurology (09.11.2023)
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Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review
Riquin, Elise, Duverger, Philippe, Cariou, Cindy, Barth, Magalie, Prouteau, Clément, Van Bogaert, Patrick, Bonneau, Dominique, Roy, Arnaud
Published in Frontiers in psychiatry (28.07.2020)
Published in Frontiers in psychiatry (28.07.2020)
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Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
Riquin, Elise, Barth, Magalie, Le Nerzé, Thomas, Pasquini, Natwin, Prouteau, Clement, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud
Published in Frontiers in psychiatry (07.04.2022)
Published in Frontiers in psychiatry (07.04.2022)
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Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
Riquin, Elise, Le Nerzé, Thomas, Pasquini, Natwin, Barth, Magalie, Prouteau, Clément, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud
Published in Frontiers in psychiatry (20.07.2021)
Published in Frontiers in psychiatry (20.07.2021)
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Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M, Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O'Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M, Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Published in Life (Basel, Switzerland) (27.10.2022)
Published in Life (Basel, Switzerland) (27.10.2022)
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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases
Cavestro, Chiara, Morra, Francesca, Legati, Andrea, D'Amato, Marco, Nasca, Alessia, Iuso, Arcangela, Lubarr, Naomi, Morrison, Jennifer L., Wheeler, Patricia G., Serra‐Juhé, Clara, Rodríguez‐Santiago, Benjamín, Turón‐Viñas, Eulalia, Prouteau, Clement, Barth, Magalie, Hayflick, Susan J., Ghezzi, Daniele, Tiranti, Valeria, Di Meo, Ivano
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
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Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS
Desquiret-Dumas, Valerie, Gueguen, Naig, Barth, Magalie, Chevrollier, Arnaud, Hancock, Saege, Wallace, Douglas C., Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent
Published in Biochimica et biophysica acta (01.06.2012)
Published in Biochimica et biophysica acta (01.06.2012)
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Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders
Michael, Julianne, VanSickle, Elizabeth, Vipond, Marlie, Dalman, Abby, Prokop, Jeremy, Schwartz, Charles E, Rajasekaran, Surender, Bachmann, André S, Barth, Magalie, Prouteau, Clément, Almagor, Yotam, Berkun, Lina, Alterescu, Gheona, Bupp, Caleb P
Published in Medical sciences (Basel) (04.04.2023)
Published in Medical sciences (Basel) (04.04.2023)
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Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients
Denamur, Sophie, Touati, Guy, Debelleix, Stéphane, Damaj, Léna, Barth, Magalie, Tardieu, Marine, Gorce, Magali, Broué, Pierre, Lacombe, Didier, Labarthe, François
Published in ERJ open research (2022)
Published in ERJ open research (2022)
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