日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort

法国人群中严重非综合征性特定学习和语言障碍的外显子组测序

Viora-Dupont, Eléonore; Delanne, Julian; Garde, Aurore; Nambot, Sophie; Colin, Estelle; Bournez, Marie; Fauconnier-Fatus, Clémence; Racine, Caroline; Simao De Souza, Clément; Bernard, Céline; Maurer, Agnès; Espitalier, Aurélie; Binquet, Christine; Bouctot, Marion; Humbert, Marie-Laure; Briffaut, Anne-Sophie; Darmency, Véronique; Plumet, Patricia; Cotinaud-Ricou, Audrey; Relin, Noémie; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Tran Mau-Them, Frederic; Denommé-Pichon, Anne-Sophie; Safraou, Hana; Vitobello, Antonio; Philippe, Christophe; Duffourd, Yannis; Bruel, Ange-Line; Thauvin-Robinet, Christel; Faivre, Laurence

Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

更正:MTOR相关伊藤氏色素减退症伴神经发育异常的临床谱

Carmignac, Virginie; Mignot, Cyril; Blanchard, Emmanuelle; Kuentz, Paul; Aubriot-Lorton, Marie-Hélène; Parker, Victoria E R; Sorlin, Arthur; Fraitag, Sylvie; Courcet, Jean-Benoît; Duffourd, Yannis; Rodriguez, Diana; Knox, Rachel G; Polubothu, Satyamaanasa; Boland, Anne; Olaso, Robert; Delepine, Marc; Darmency, Véronique; Riachi, Melissa; Quelin, Chloé; Rollier, Paul; Goujon, Louise; Grotto, Sarah; Capri, Yline; Jacquemont, Marie-Line; Odent, Sylvie; Amram, Daniel; Chevarin, Martin; Vincent-Delorme, Catherine; Catteau, Benoît; Guibaud, Laurent; Arzimanoglou, Alexis; Keddar, Malika; Sarret, Catherine; Callier, Patrick; Bessis, Didier; Geneviève, David; Deleuze, Jean-François; Thauvin, Christel; Semple, Robert K; Philippe, Christophe; Rivière, Jean-Baptiste; Kinsler, Veronica A; Faivre, Laurence; Vabres, Pierre

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

在一项包含547名发育障碍患者的队列研究中,通过外显子组测序诊断遗传性代谢疾病的诊断率

Delanne, Julian; Bruel, Ange-Line; Huet, Frédéric; Moutton, Sébastien; Nambot, Sophie; Grisval, Margot; Houcinat, Nada; Kuentz, Paul; Sorlin, Arthur; Callier, Patrick; Jean-Marcais, Nolwenn; Mosca-Boidron, Anne-Laure; Mau-Them, Frédéric Tran; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Lehalle, Daphné; El Chehadeh, Salima; Francannet, Christine; Lebrun, Marine; Lambert, Laetitia; Jacquemont, Marie-Line; Gerard-Blanluet, Marion; Alessandri, Jean-Luc; Willems, Marjolaine; Thevenon, Julien; Chouchane, Mondher; Darmency, Véronique; Fatus-Fauconnier, Clémence; Gay, Sébastien; Bournez, Marie; Masurel, Alice; Leguy, Vanessa; Duffourd, Yannis; Philippe, Christophe; Feillet, François; Faivre, Laurence; Thauvin-Robinet, Christel

Discovery and preclinical characterization of [18F]PI-2620, a next-generation tau PET tracer for the assessment of tau pathology in Alzheimer's disease and other tauopathies

发现并进行临床前表征 [18F]PI-2620,这是一种下一代 tau PET 示踪剂,可用于评估阿尔茨海默病和其他 tau 蛋白病中的 tau 病理

Heiko Kroth, Felix Oden, Jerome Molette, Hanno Schieferstein, Francesca Capotosti, Andre Mueller, Mathias Berndt, Heribert Schmitt-Willich, Vincent Darmency, Emanuele Gabellieri, Cédric Boudou, Tanja Juergens, Yvan Varisco, Efthymia Vokali, David T Hickman, Gilles Tamagnan, Andrea Pfeifer, Ludger Di

Correction to: The landscape of epilepsy-related GATOR1 variants

更正:癫痫相关GATOR1变异体的概况

Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E; van Kempen, Marjan; Brilstra, Eva H; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; Martin, Anne de Saint; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik; Jansen, Floor; Braun, Kees; Jong, Daniëlle de; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Mélanie; Sattar, Shifteh; Marchal, Cécile; NordliJr, Douglas R; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boissé; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; Bellescize, Julitta de; Catenoix, Hélène; Dorn, Thomas; Zenker, Martin; Müller-Schlüter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R; Møller, Rikke S; Baulac, Stéphanie

Correction: The landscape of epilepsy-related GATOR1 variants

更正:癫痫相关GATOR1变异体的概况

Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E; van Kempen, Marjan; Brilstra, Eva H; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmüller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H; Jansen, Floor E; Braun, Kees; de Jong, Daniëlle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Mélanie; Sattar, Shifteh; Marchal, Cécile; NordliJr, Douglas R; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boissé; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Hélène; Dorn, Thomas; Zenker, Martin; Müller-Schlüter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R; Møller, Rikke S; Baulac, Stéphanie

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

SLC13A5基因突变会导致常染色体隐性遗传性癫痫性脑病,并在出生后数日内出现癫痫发作。

Thevenon, Julien; Milh, Mathieu; Feillet, François; St-Onge, Judith; Duffourd, Yannis; Jugé, Clara; Roubertie, Agathe; Héron, Delphine; Mignot, Cyril; Raffo, Emmanuel; Isidor, Bertrand; Wahlen, Sandra; Sanlaville, Damien; Villeneuve, Nathalie; Darmency-Stamboul, Véronique; Toutain, Annick; Lefebvre, Mathilde; Chouchane, Mondher; Huet, Frédéric; Lafon, Arnaud; de Saint Martin, Anne; Lesca, Gaetan; El Chehadeh, Salima; Thauvin-Robinet, Christel; Masurel-Paulet, Alice; Odent, Sylvie; Villard, Laurent; Philippe, Christophe; Faivre, Laurence; Rivière, Jean-Baptiste

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

OFD1综合征中枢神经系统受累:一项临床、分子和神经影像学研究

Del Giudice, Ennio; Macca, Marina; Imperati, Floriana; D'Amico, Alessandra; Parent, Philippe; Pasquier, Laurent; Layet, Valerie; Lyonnet, Stanislas; Stamboul-Darmency, Veronique; Thauvin-Robinet, Christel; Franco, Brunella

Biogenesis of protein bodies during vicilin accumulation in Medicago truncatula immature seeds

苜蓿幼苗种子中维西林积累过程中蛋白质体的生物合成

Abirached-Darmency, Mona; Dessaint, Fabrice; Benlicha, Emilie; Schneider, Charles

Fitness costs linked to dinitroaniline resistance mutation in Setaria

谷子中与二硝基苯胺抗性突变相关的适应性代价

Darmency, H; Picard, J C; Wang, T