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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Miriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Jousselin, Kevin; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; Paluch, Robin; de Sainte Agathe, Jean-Madeleine; Almanza Fuerte, Edith P; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stéphanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Bednarek-Weirauch, Nathalie; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Briand-Suleau, Audrey; Buratti, Julien; Celse, Tristan; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Colson, Cindy; Conrad, Solène; Courtin, Thomas; Creveaux, Isabelle; Cullier, Anne-Charlotte; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Demeer, Bénédicte; Denommé-Pichon, Anne-Sophie; Diekhoff, Philine; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; El Chehadeh, Salima; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Haack, Tobias B; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Herget, Theresia; Héron, Bénédicte; Héron, Delphine; Herwig, Johanna; Heulin, Mathilde; Holling, Tess; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Kutsche, Kerstin; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Le Bricquir, Floriane; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian M W; Mansour-Hendili, Lamisse; Maraval, Julien; Marquardt, Iris; Mattausch, Carolin; Mercier, Sandra; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valérie; Olivieri, Simone; Õunap, Katrin; Pais, Lynn S; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Ruault, Valentin; Rupin-Mas, Maïlys; Saugier-Veber, Pascale; Saunier, Aline; Saneto, Russell; Sarrazin, Elisabeth; Sarret, Catherine; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir B; Spranger, Stephanie; Smol, Thomas; Sturm, Marc; Sunyaev, Shamil R; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylène; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Van-Gils, Julien; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Wagner, Jan; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Bramswig, Nuria C; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome

拓展与FGF12基因致病变异相关的表型:从发育性和癫痫性脑病到药物反应性癫痫伴良好认知结局

Pierret, Clément; Riccardi, Florence; Neveu, Julien; Alesandrini, Marie; Altuzarra, Cécilia; Boulogne, Sébastien; Carneiro, Maryline; Chatron, Nicolas; Isidor, Bertrand; Lacan, Laure; Lesca, Gaëtan; Nguyen, Sylvie; Rodriguez, Diana; Souci, Sabrine; Valence, Stéphanie; Villard, Laurent; Milh, Mathieu; Desnous, Béatrice

Exploring farmers' knowledge, attitudes and control practices on ixodid tick in the context of climate change of South Kivu province, Eastern Democratic Republic of Congo

在刚果民主共和国东部南基伍省,气候变化背景下,探讨农民对硬蜱的认知、态度和防治措施。

Mutwedu, Valence Bwana; Mushagalusa, Pyame Balemirwe; Cilabara, Cathérine Shukuru; Mugumaarhahama, Yannick; Bisimwa, Patrick Ntagereka; Ayagirwe, Rodrigue Balthazar Basengere; Katcho, Karume

Epidemiology of prehospital traumatic cardiac arrest in Geneva: a retrospective cohort study

日内瓦院前创伤性心脏骤停的流行病学:一项回顾性队列研究

Midez, R; Suppan, L; Egger, C; Jourdan, E; Quintard, H; de Valence, T

A Peer-Mother Counseling Intervention Improves Early Infant HIV Testing in Rural Uganda

同伴母亲咨询干预措施改善了乌干达农村地区婴儿早期艾滋病毒检测率

Kabami, Jane; Kabageni, Stella; Koss, Catherine A; Okiring, Jaffer; Nangendo, Joanita; Ruhamyankaka, Emmanuel; Ssebutinde, Peter; Arinitwe, Elizabeth; Ayebare, Michael; Napyo, Agnes; Mfitumukiza, Valence; Tamu, Munezero; Kakande, Elijah; Katahoire, Anne R; Musoke, Philippa; Kamya, Moses R; Balzer, Laura B

Prevalence and factors associated with poor umbilical cord care among postpartum mothers in South Western Uganda: a cross sectional study

乌干达西南部产后母亲脐带护理不良的患病率及相关因素:一项横断面研究

Mugoya, Brian; Tumwine, James K; Ategeka, Emmanuel; Nduhukire, Timothy; Mfitumukiza, Valence; Tamu, Munezero; Mary, Amito Paula; Okafor, Christiana Nkiru; Turyasingura, Jane; Jane, Kabami; Immaculate, Mandera; Tumusiime, Alex; Grace, Kenyange; Napyo, Agnes

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

对snRNA基因的系统分析揭示了显性和隐性发育性脑病和癫痫性脑病中常见的RNU2-2变异。

Leitão, Elsa; Santini, Amandine; Cogne, Benjamin; Essid, Myriam; Athanasiadou, Maria; LaFlamme, Christy W; Marijon, Pierre; Bernard, Virginie; Chatron, Nicolas; Barcia, Giulia; Keren, Boris; Mignot, Cyril; Charles, Perrine; Besnard, Thomas; de Sainte Agathe, Jean-Madeleine; Fuerte, Edith P Almanza; Sengupta, Soham; Milh, Mathieu; Ramond, Francis; Allan, Talia; An, Isabelle; Araujo, Camila; Arpin, Stephanie; Austin-Tse, Christina; Auvin, Stéphane; Baer, Sarah; Bahi-Buisson, Nadia; Bak, Mads; Barth, Magalie; Baulac, Stéphanie; Weirauch, Nathalie Bednark; Begemann, Matthias; Bennett, Mark F; Bensabath, Uriel; Bézieau, Stéphane; Bhouri, Rakia; Biehler, Margaux; Hammer, Trine Bjørg; Bogoin, Julie; Bonanno, Emilie; Boussion, Simon; Bramswig, Nuria C; Bris, Céline; Brosseau-Beauvir, Adelaide; Bruel, Ange-Line; Buratti, Julien; Chambon, Pascal; Chemaly, Nicole; Chesneau, Bertrand; Colin, Estelle; Colmard, Maxime; Conrad, Solène; Courtin, Thomas; Dang, Louis T; de Saint Martin, Anne; de Vanssay de Blavous Legendre, Caroline; Denommé-Pichon, Anne-Sophie; DiTroia, Stephanie; Doco-Fenzy, Martine; Dubourg, Christèle; Dubucs, Charlotte; Ducreux, Stéphanie; Dufour, Louis; Duquet, Romain; Durand, Benjamin; Chehadeh, Salima El; Elbracht, Miriam; Faivre, Laurence; Faoucher, Marie; Faudet, Anne; Forlani, Sylvie; Fradin, Mélanie; Gaignard, Pauline; Ganne, Benjamin; Garde, Aurore; Géraud, Justine; Gill, Deepak; Goldenberg, Alice; Grabli, David; Grisel, Coraline; Gueden, Sophie; Gueguen, Paul; Guerrot, Anne-Marie; Guichet, Agnès; Härting, Nina; Häusler, Martin Georg; Heide, Solveig; Héron, Bénédicte; Héron, Delphine; Heulin, Mathilde; Houdayer, Clara; Isidor, Bertrand; Jacquette, Aurélia; Januel, Louis; Jean-Marçais, Nolwenn; Jousselin, Kevin; Kaiser, Frank J; Kaya, Sabine; King, Chontelle; Konyukh, Marina; Kraft, Florian; Krause, Jeremias; Kirstetter, Rémi; Kuechler, Alma; Kurth, Ingo; Labalme, Audrey; Laloy, Jean-Serene; Laugel, Vincent; Bricquir, Floriane Le; Lèbre, Anne-Sophie; Lebrun, Marine; Leguern, Eric; Levy, Jonathan; Lieffering, Nico; Lyonnet, Stanislas; Lüthy, Kevin; Macdonald, Sian; Mansour-Hendili, Lamisse; Maraval, Julien; Mattausch, Carolin; Messaoud, Olfa; Morel, Godelieve; Mortreux, Jérémie; Munnich, Arnold; Nabbout, Rima; Nambot, Sophie; Navarro, Vincent; Neale, Ashana; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; O'Leary, Melanie C; Odent, Sylvie; Ojeda, Naomi Meave; Olin, Valerie; Õunap, Katrin; Pais, Lynn S; Paluch, Robin; Panagiotakaki, Eleni; Patat, Olivier; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Piton, Amélie; Planes, Marc; Poirsier, Céline; Pouzet, Antoine; Prouteau, Clément; Quéméner-Redon, Sylvia; Renaud, Mathilde; Richard, Anne-Claire; Rio, Marlène; Rivier, Clotilde; Robin-Renaldo, Florence; Rollier, Paul; Rossi, Massimiliano; Roubertie, Agathe; Rupin, Mailys; Saugier-Veber, Pascale; Saneto, Russell; Sarrazin, Elisabeth; Schaefer, Elise; Schluth-Bolard, Caroline; Schneider, Amy; Schumann, Isabell; Seplyarskiy, Vladimir; Smol, Thomas; Sunyaev, Shamil; Sperelakis-Beedham, Brian; Stenton, Sarah L; Stock, Friedrich; Tharreau, Mylene; Torun, Deniz; Toulouse, Joseph; Thiyagarajah, Harshini; Valence, Stéphanie; Valleix, Sophie; Villard, Laurent; Ville, Dorothée; Villeneuve, Nathalie; Vitobello, Antonio; Waernessyckle, Aurélie; Weber, Yvonne; Wieczorek, Dagmar; Witkowski, Tom; Yadavilli, Manya; Yammine, Tony; Zaafrane-Khachnaoui, Khaoula; Zaki, Maha S; Ziegler, Alban; Lermine, Alban; Nicolas, Gael; Gleeson, Joseph G; Sadleir, Lynette G; Hildebrand, Michael S; Scheffer, Ingrid E; Whiffin, Nicola; O'Donnell-Luria, Anne; Mefford, Heather C; Blanc, Pierre; Thevenon, Julien; Charbonnier, Camille; Charenton, Clément; Depienne, Christel; Lesca, Gaetan; Nava, Caroline

Two human milk-like synthetic bacterial communities displayed contrasted impacts on barrier and immune responses in an intestinal quadricellular model

两种类似人乳的合成细菌群落在肠道四细胞模型中对屏障和免疫反应表现出对比影响

Charles Le Bras, Lucie Rault, Nolwenn Jacquet, Nathalie Daniel, Victoria Chuat, Florence Valence, Amandine Bellanger, Latifa Bousarghin, Sophie Blat, Yves Le Loir, Isabelle Le Huërou-Luron, Sergine Even

Deciphering the metabolism of Lactobacillus delbrueckii subsp. delbrueckii during soy juice fermentation using phenotypic and transcriptional analysis

利用表型和转录分析揭示德氏乳杆菌德氏亚种在豆汁发酵过程中的代谢

Olivier Harlé, Jérôme Niay, Sandrine Parayre, Aurélie Nicolas, Gwenaële Henry, Marie-Bernadette Maillard, Florence Valence, Anne Thierry, Éric Guédon, Hélène Falentin, Stéphanie-Marie Deutsch

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

ZEB1基因功能缺失变异会导致胼胝体显性异常,但认知预后良好。

Heide, Solveig; Argilli, Emanuela; Valence, Stéphanie; Boutaud, Lucile; Roux, Nathalie; Mignot, Cyril; Nava, Caroline; Keren, Boris; Giraudat, Kim; Faudet, Anne; Gerasimenko, Anna; Garel, Catherine; Blondiaux, Eleonore; Rastetter, Agnès; Grevent, David; Le, Carolyn; Mackenzie, Lisa; Richards, Linda; Attié-Bitach, Tania; Depienne, Christel; Sherr, Elliott; Héron, Delphine