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收藏Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Renard, Perrine; Caccavelli, Laure; Legendre, Antoine; Tuchmann-Durand, Caroline; Balakirouchenane, David; Blanchet, Benoit; Straube, Marjolene; Narjoz, Celine; Hubas, Arnaud; Garros, Alexa; Mention, Karine; Bednarek, Nathalie; Goudin, Nicolas; Broissand, Christine; Schlatter, Joel; Cisternino, Salvatore; Cagnard, Nicolas; van Endert, Peter; Diana, Julien; de Calbiac, Hortense; de Lonlay, Pascale 分享 收藏 Risk factors for unfavorable outcome at discharge of newborns with hypoxic-ischemic encephalopathy in the era of hypothermiaDebillon, Thierry; Sentilhes, Loic; Kayem, Gilles; Chevallier, Marie; Zeitlin, Jennifer; Baud, Olivier; Vilotitch, Antoine; Pierrat, Veronique; Guellec, Isabelle; Ancel, Pierre Yves; Bednarek, Nathalie; Ego, Anne 分享 收藏 分享 收藏 CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signatureCDK13-related障碍: 一系列18个以前未发表的个体的报告和表观遗传特征的描述Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andree; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David 分享 收藏 Association Between Early Amino Acid Intake and Full-Scale IQ at Age 5 Years Among Infants Born at Less Than 30Weeks' GestationRoze, Jean-Christophe; Morel, Baptiste; Lapillonne, Alexandre; Marret, Stephane; Guellec, Isabelle; Darmaun, Dominique; Bednarek, Nathalie; Moyon, Thomas; Marchand-Martin, Laetitia; Benhammou, Valerie; Pierrat, Veronique; Flamant, Cyril; Gascoin, Geraldine; Mitanchez, Delphine; Cambonie, Gilles; Storme, Laurent; Tosello, Bathelemie; Biran, Valerie; Claris, Olivier; Picaud, Jean-Charles; Favrais, Geraldine; Beuchee, Alain; Loron, Gauthier; Gire, Catherine; Durrmeyer, Xavier; Gressens, Pierre; Saliba, Elie; Ancel, Pierre-Yves 分享 收藏 Cerebral injuries in neonatal encephalopathy treated with hypothermia: French LyTONEPAL cohort低温治疗新生儿脑病的脑损伤: 法国LyTONEPAL队列Beck, Jonathan; Bednarek, Nathalie; Pierrat, Veronique; Vilotitch, Antoine; Loron, Gauthier; Alison, Marianne; Guellec, Isabelle; Hertz-Pannier, Lucie; de Launay, Catherine; Ego, Anne; Vo-Van, Philippe; Ancel, Pierre-Yves; Debillon, Thierry 分享 收藏 Automated brain MRI metrics in the EPIRMEX cohort of preterm newborns: Correlation with the neurodevelopmental outcome at 2 yearsMorel, Baptiste; Bertault, Pierre; Favrais, Geraldine; Tavernier, Elsa; Tosello, Barthelemy; Bednarek, Nathalie; Barantin, Laurent; Chadie, Alexandra; Proisy, Maia; Xu, Yongchao; Bloch, Isabelle; Sirinelli, Dominique; Adamsbaum, Catherine; Tauber, Clovis; Saliba, Elie 分享 收藏 RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodZagaglia, Sara; Steel, Dora; Krithika, S.; Hernandez-Hernandez, Laura; Custodio, Helena Martins; Gorman, Kathleen M.; Vezyroglou, Aikaterini; Moller, Rikke S.; King, Mary D.; Hammer, Trine Bjorg; Spaull, Robert; Fazeli, Walid; Bartolomaeus, Tobias; Doummar, Diane; Keren, Boris; Mignot, Cyril; Bednarek, Nathalie; Cross, J. Helen; Mallick, Andrew A.; Sanchis-Juan, Alba; Basu, Anna; Raymond, F. Lucy; Lynch, Bryan J.; Majumdar, Anirban; Stamberger, Hannah; Weckhuysen, Sarah; Sisodiya, Sanjay M.; Kurian, Manju A. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesValence, Stephanie; Cochet, Emmanuelle; Rougeot, Christelle; Garel, Catherine; Chantot-Bastaraud, Sandra; Lainey, Elodie; Afenjar, Alexandra; Barthez, Marie-Anne; Bednarek, Nathalie; Doummar, Diane; Faivre, Laurence; Goizet, Cyril; Haye, Damien; Heron, Benedicte; Kemlin, Isabelle; Lacombe, Didier; Milh, Mathieu; Moutard, Marie-Laure; Riant, Florence; Robin, Stephanie; Roubertie, Agathe; Sarda, Pierre; Toutain, Annick; Villard, Laurent; Ville, Dorothee; de Villemeur, Thierry Billette; Rodriguez, Diana; Burglen, Lydie 分享 收藏 分享 收藏 Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureSchiff, Manuel; Roda, Celine; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anais; Brice, Alexis; Bruneel, Arnaud; Buissonniere, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Daire, Valerie; De Barace, Claire; De Maistre, Emmanuel; De Saint-Martin, Anne; Dorison, Nathalie; Drouin-Garraud, Valerie; Dupre, Thierry; Echenne, Bernard; Edery, Patrick; Feillet, Francois; Fontan, Isabelle; Francannet, Christine; Labarthe, Francois; Gitiaux, Cyril; Heron, Delphine; Hully, Marie; Lamoureux, Sylvie; Martin-Coignard, Dominique; Mignot, Cyril; Morin, Gilles; Pascreau, Tiffany; Pincemaille, Olivier; Polak, Michel; Roubertie, Agathe; Thauvin-Robinet, Christel; Toutain, Annick; Viot, Geraldine; Vuillaumier-Barrot, Sandrine; Seta, Nathalie; De Lonlay, Pascale 分享 收藏 WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsCavallin, Mara; Rujano, Maria A.; Bednarek, Nathalie; Medina-Cano, Daniel; Gelot, Antoinette Bernabe; Drunat, Severine; Maillard, Camille; Garfa-Traore, Meriem; Bole, Christine; Nitschke, Patrick; Beneteau, Claire; Besnard, Thomas; Cogne, Benjamin; Eveillard, Marion; Kuster, Alice; Poirier, Karine; Verloes, Alain; Martinovic, Jelena; Bidat, Laurent; Rio, Marlene; Lyonnet, Stanislas; Reilly, M. Louise; Boddaert, Nathalie; Jenneson-Liver, Melanie; Motte, Jacques; Doco-Fenzy, Martine; Chelly, Jamel; Attie-Bitach, Tania; Simons, Matias; Cantagrel, Vincent; Passemard, Sandrine; Baffet, Alexandre; Thomas, Sophie; Bahi-Buisson, Nadia 分享 收藏 Risk of malignant neoplasms in acromegaly: a case-control studyWolinski, K.; Stangierski, A.; Dyrda, K.; Nowicka, K.; Pelka, M.; Iqbal, A.; Car, A.; Lazizi, M.; Bednarek, N.; Czarnywojtek, A.; Gurgul, E.; Ruchala, M. 分享 收藏 Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencySabourdy, Frederique; Mourey, Lionel; Le Trionnaire, Emmanuelle; Bednarek, Nathalie; Caillaud, Catherine; Chaix, Yves; Delrue, Marie-Ange; Dusser, Anne; Froissart, Roseline; Garnotel, Roselyne; Guffon, Nathalie; Megarbane, Andre; de Baulny, Helene Ogier; Pedespan, Jean-Michel; Pichard, Samia; Valayannopoulos, Vassili; Verloes, Alain; Levade, Thierry 分享 收藏 分享 收藏 The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsLeroy, Camille; Landais, Emilie; Briault, Sylvain; David, Albert; Tassy, Olivier; Gruchy, Nicolas; Delobel, Bruno; Gregoire, Marie-Jose; Leheup, Bruno; Taine, Laurence; Lacombe, Didier; Delrue, Marie-Ange; Toutain, Annick; Paubel, Agathe; Mugneret, Francine; Thauvin-Robinet, Christel; Arpin, Stephanie; Le Caignec, Cedric; Jonveaux, Philippe; Beri, Mylene; Leporrier, Nathalie; Motte, Jacques; Fiquet, Caroline; Brichet, Olivier; Mozelle-Nivoix, Monique; Sabouraud, Pascal; Golovkine, Nathalie; Bednarek, Nathalie; Gaillard, Dominique; Doco-Fenzy, Martine 分享 收藏 
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