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

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome

药物稳定缺氧诱导因子 1-α 可抑制干扰素反应并促进艾卡迪-古蒂埃综合征中的糖酵解。

Batignes, Maxime; Luka, Marine; Jagtap, Surabhi; de Cevins, Camille; Nemazanyy, Ivan; Leib, Jacqueline; Fali, Tinhinane; Pierga, Alexandre; Zarhrate, Mohammed; García-Paredes, Víctor; Carbone, Francesco; Pérot, Brieuc P; Neven, Bénédicte; Bader-Meunier, Brigitte; Quartier, Pierre; Hully, Marie; Belot, Alexandre; Lepelley, Alice; Frémond, Marie-Louise; Fischer, Alain; Ménager, Mickaël M

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

与NUS1致病变异相关的神经系统表型谱:一项综合病例系列研究

Brooker, Sarah M; Novelli, Maria; Coukos, Robert; Prakash, Neha; Kamel, Walaa A; Amengual-Gual, Marta; Anheim, Mathieu; Barcia, Giulia; Bardakjian, Tanya; Baur, Franciska; Berweck, Steffen; Bölsterli, Bigna K; Brugger, Melanie; Cassini, Thomas; Chatron, Nicolas; Corner, Brian; Dafsari, Hormos Salimi; de Sainte Agathe, Jean-Madeleine; Ellis, Colin A; Ezell, Kimberly M; Foucard, Cendrine; Frucht, Steven J; Garcia, Maria C; Gill, Deepak; Guimier, Anne; Hamid, Rizwan; Heine-Suñer, Damià; Herkenrath, Peter; Hully, Marie; Isaias, Ioannis U; Januel, Louis; Laurencin, Chloe; Laut, Taylor; Lavillaureix, Alinoe; Lesca, Gaetan; Lesieur-Sebellin, Marion; Magistrelli, Luca; Marelli, Cecilia; Mefford, Heather C; Mendelsohn, Bryce A; Mercimek-Andrews, Saadet; Miller, Claire; Mohammad, Shekeeb S; Morgante, Francesca; Nandipati, Sirisha; Opladen, Thomas; Padmanaban, Mahesh; Pauni, Micaela; Pezzoli, Gianni; Piton, Amelie; Ramond, Francis; Riboldi, Giulietta M; Rougeot-Jung, Christelle; Santos-Simarro, Fernando; Scheffer, Ingrid E; Serari, Naoual; Stahl, Christine M; Kung, Ann Stembridge; Tarongí Sanchez, Susana; Thauvin-Robinet, Christel; Till, Marianne; Tranchant, Christine; Troedson, Christopher; Tropea, Thomas F; Vanakker, Olivier; Vega, Patricia; Wiese, Maxi Leona; Wieshmann, Udo; Williams, Laura J; Wirth, Thomas; Zech, Michael; Zempel, Hans; Roze, Emmanuel; Leuzzi, Vincenzo; Galosi, Serena; Fung, Victor S C; Carvill, Gemma; Krainc, Dimitri; Gerard, Elizabeth; Mencacci, Niccolò E

Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies

评估大麻二酚在药物难治性癫痫患者中的真实世界疗效、安全性和18个月的治疗维持率

Chemaly, Nicole; Kuchenbuch, Mathieu; Losito, Emma; Kaminska, Anna; Coste-Zeitoun, Delphine; Barcia, Giulia; Desguerre, Isabelle; Hully, Marie; Nabbout, Rima

Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré Syndrome

血浆置换疗法治疗儿童急性横贯性脊髓炎、弛缓性脊髓炎和格林-巴利综合征的疗效和安全性

Fleurance, Alix; Joseph, Laure; Dehoux, Laurène; Barnerias, Christine; Hully, Marie; Kossorotoff, Manoelle; Sarda, Eugénie; Cheuret, Emmanuel; Bach, Nathalie; De Marcellus, Charles; Perez, Florine; Colmard, Maxime; Meyer, Pierre; Jokic, Mikael; Boyer, Olivia; Gitiaux, Cyril; Oualha, Mehdi; Desguerre, Isabelle; Aubart, Mélodie

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy

LSM7基因变异涉及LSM复合物功能的关键氨基酸,会导致一种伴有脑白质营养不良和小脑萎缩的神经发育障碍。

Crespin, Matis; Siquier-Pernet, Karine; Marzin, Pauline; Bole-Feysot, Christine; Malan, Valérie; Nitschké, Patrick; Hully, Marie; Roux, Charles-Joris; Lemoine, Michel; Rio, Marlène; Boddaert, Nathalie; Courtin, Thomas; Cantagrel, Vincent

Epilepsia Open—August 2025 Announcements

癫痫公开赛——2025年8月公告

Barcia, Giulia; Chemaly, Nicole; Gobin-Limballe, Stéphanie; Losito, Emma; Aubart, Mélodie; Sarda, Eugénie; Assouline, Zahra; Plante-Bordeneuve, Pauline; Hully, Marie; Barrois, Remi; Barnerias, Christine; Sareidaki, Doxa; Zeitoun, Delphine Coste; Eisermann, Monika; Fourrage, Cécile; Hanein, Sylvain; Rio, Marlène; Boddaert, Nathalie; Desguerre, Isabelle; Kaminska, Anna; Steffann, Julie; Nabbout, Rima

From healthy to unhealthy obesity: A longitudinal study of adults in ELSA-Brasil

从健康肥胖到不健康肥胖:ELSA-巴西成年人的纵向研究

Mendes, Fernanda Duarte; Dos Santos, Hully Cantão; Mill, José Geraldo; Molina, Maria Del Carmen Bisi; Diniz, Maria de Fátima H Sander; Quintino, Carla Romagnolli; Bittencourt, Márcio Sommer; Faria, Carolina Perim de

Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).

从患有 Aicardi-Goutières 综合征的患者中生成了两条 iPSC 系,这两条患者分别携带双等位基因 ADAR1 突变 (PC138) 或杂合 IFIH1 突变 (PC139)。

Zerad Lisa, Didry-Barca Blaise, Banal Céline, Onteniente Brigitte, Lefort Nathalie, Lepelley Alice, Seabra Luis, Hully Marie, Zweier Christiane, Bondurand Nadège, Crow Yanick J, Frémond Marie-Louise

Specific clinical and radiological characteristics of anti-NMDA receptor autoimmune encephalitis following herpes encephalitis

疱疹性脑炎后抗NMDA受体自身免疫性脑炎的特定临床和放射学特征

Dumez, Pauline; Villagrán-García, Macarena; Bani-Sadr, Alexandre; Benaiteau, Marie; Peter, Elise; Farina, Antonio; Picard, Géraldine; Rogemond, Véronique; Ruitton-Allinieu, Marie-Camille; Cotton, François; Aubart, Mélodie; Hully, Marie; Antoine, Jean-Christophe; Joubert, Bastien; Honnorat, Jérôme

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

JAK抑制剂治疗Aicardi-Goutières综合征:一项单中心多学科真实世界研究

Frémond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Rémi; Lévy, Romain; Aubart, Mélodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugénie; Al Adba, Buthaina; Couderc, Sophie; D' Almeida, Céline; Berat, Claire-Marine; Durrleman, Chloé; Espil, Caroline; Lambert, Laetitia; Méni, Cécile; Périvier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stéphane; Desguerre, Isabelle; Crow, Yanick J; Neven, Bénédicte