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

TEC-ADHERE: Real-World Persistence and Adherence on Dimethyl Fumarate in Patients with Relapsing-Remitting Multiple Sclerosis in the French OroSEP Patient-Support Program

TEC-ADHERE:法国 OroSEP 患者支持计划中复发缓解型多发性硬化症患者使用富马酸二甲酯的真实世界持续性和依从性

Labauge, Pierre; Créange, Alain; Moreau, Thibault; Nouvet-Gire, Jocelyne; Pedespan, Bernard; Heinzlef, Olivier; Texier, Nathalie; Gros, Marilyn; Marti, Catherine; Ruiz, Marta; Martinez, Mikel; Castelnovo, Giovanni

What’s new in EJHG in May 2025?

2025年5月EJHG有哪些新内容?

Tiller, Jane; Bakshi, Andrew; Dowling, Grace; Keogh, Louise; McInerney-Leo, Aideen; Barlow-Stewart, Kristine; Boughtwood, Tiffany; Gleeson, Penny; Delatycki, Martin B; Winship, Ingrid; Otlowski, Margaret; Lacaze, Paul; Michot, Caroline; Le Goff, Carine; Mahaut, Clémentine; Afenjar, Alexandra; Brooks, Alice S; Campeau, Philippe M; Destree, Anne; Di Rocco, Maja; Donnai, Dian; Hennekam, Raoul; Heron, Delphine; Jacquemont, Sébastien; Kannu, Peter; Lin, Angela E; Manouvrier-Hanu, Sylvie; Mansour, Sahar; Marlin, Sandrine; McGowan, Ruth; Murphy, Helen; Raas-Rothschild, Annick; Rio, Marléne; Simon, Marleen; Stolte-Dijkstra, Irene; Stone, James R; Sznajer, Yves; Tolmie, John; Touraine, Renaud; van den Ende, Jenneke; Van der Aa, Nathalie; van Essen, Ton; Verloes, Alain; Munnich, Arnold; Cormier-Daire, Valérie; Shanks, Morag E; Downes, Susan M; Copley, Richard R; Lise, Stefano; Broxholme, John; Hudspith, Karl A Z; Kwasniewska, Alexandra; Davies, Wayne I L; Hankins, Mark W; Packham, Emily R; Clouston, Penny; Seller, Anneke; Wilkie, Andrew O M; Taylor, Jenny C; Ragoussis, Jiannis; Németh, Andrea H; Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence CS; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter; Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R; Nillesen, Willy M; Yntema, Helger G; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben CJ; van Bokhoven, Hans; de Brouwer, Arjan PM; McNeill, Alisdair

Association of abnormal explicit sense of agency with cerebellar impairment in myoclonus-dystonia

肌阵挛-肌张力障碍中异常的显性自主感与小脑功能障碍的关联

Tarrano, Clément; Galléa, Cécile; Delorme, Cécile; McGovern, Eavan M; Atkinson-Clement, Cyril; Barnham, Isaac Jarratt; Brochard, Vanessa; Thobois, Stéphane; Tranchant, Christine; Grabli, David; Degos, Bertrand; Corvol, Jean Christophe; Pedespan, Jean-Michel; Krystkowiak, Pierre; Houeto, Jean-Luc; Degardin, Adrian; Defebvre, Luc; Valabrègue, Romain; Beranger, Benoit; Apartis, Emmanuelle; Vidailhet, Marie; Roze, Emmanuel; Worbe, Yulia

Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex

神经发育性肌阵挛-肌张力障碍的精神表型是由小脑对大脑皮层的调节异常所致。

Tarrano, Clément; Galléa, Cécile; Delorme, Cécile; McGovern, Eavan M; Atkinson-Clement, Cyril; Brochard, Vanessa; Thobois, Stéphane; Tranchant, Christine; Grabli, David; Degos, Bertrand; Corvol, Jean Christophe; Pedespan, Jean-Michel; Krystkowiak, Pierre; Houeto, Jean-Luc; Degardin, Adrian; Defebvre, Luc; Beranger, Benoit; Martino, Davide; Apartis, Emmanuelle; Vidailhet, Marie; Roze, Emmanuel; Worbe, Yulia

Microstructure of the cerebellum and its afferent pathways underpins dystonia in myoclonus dystonia

小脑及其传入通路的微观结构是肌阵挛性肌张力障碍的基础

Tarrano, Clément; Zito, Giuseppe; Galléa, Cécile; Delorme, Cécile; McGovern, Eavan M; Atkinson-Clement, Cyril; Brochard, Vanessa; Thobois, Stéphane; Tranchant, Christine; Grabli, David; Degos, Bertrand; Corvol, Jean Christophe; Pedespan, Jean-Michel; Krystkowiak, Pierre; Houeto, Jean-Luc; Degardin, Adrian; Defebvre, Luc; Didier, Mélanie; Valabrègue, Romain; Apartis, Emmanuelle; Vidailhet, Marie; Roze, Emmanuel; Worbe, Yulia

Dissociation in reactive and proactive inhibitory control in Myoclonus dystonia

肌阵挛性肌张力障碍中反应性抑制控制和主动性抑制控制的分离

Atkinson-Clement, Cyril; Tarrano, Clement; Porte, Camille-Albane; Wattiez, Nicolas; Delorme, Cécile; McGovern, Eavan M; Brochard, Vanessa; Thobois, Stéphane; Tranchant, Christine; Grabli, David; Degos, Bertrand; Corvol, Jean-Christophe; Pedespan, Jean-Michel; Krystkoviak, Pierre; Houeto, Jean-Luc; Degardin, Adrian; Defebvre, Luc; Valabregue, Romain; Rosso, Charlotte; Apartis, Emmanuelle; Vidailhet, Marie; Pouget, Pierre; Roze, Emmanuel; Worbe, Yulia

Slow Titration of Cannabidiol Add-On in Drug-Resistant Epilepsies Can Improve Safety With Maintained Efficacy in an Open-Label Study

在一项开放标签研究中,缓慢滴定大麻二酚辅助治疗药物可提高耐药性癫痫患者的安全性并维持疗效。

D'Onofrio, Gianluca; Kuchenbuch, Mathieu; Hachon-Le Camus, Caroline; Desnous, Béatrice; Staath, Véronique; Napuri, Sylvia; Ville, Dorothée; Pedespan, Jean-Michel; Lépine, Anne; Cances, Claude; de Saint-Martin, Anne; Teng, Théo; Chemaly, Nicole; Milh, Mathieu; Villeneuve, Nathalie; Nabbout, Rima

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect

三例新发共济失调毛细血管扩张症样疾病:ATM 通路无损伤,但 S 期检查点缺陷

Alice Fiévet, Dorine Bellanger, Stéphanie Valence, Lenha Mobuchon, Alexandra Afenjar, Fabienne Giuliano, Catherine Dubois d'Enghien, Béatrice Parfait, Jean-Michel Pedespan, Nathalie Auger, Guillaume Rieunier, Agnès Collet, Lydie Burglen, Dominique Stoppa-Lyonnet, Marc-Henri Stern

EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex

EFFECTS:一项针对结节性硬化症相关室管膜下巨细胞星形细胞瘤患者的依维莫司扩大使用计划。

Fogarasi, Andras; De Waele, Liesbeth; Bartalini, Gabriella; Jozwiak, Sergiusz; Laforgia, Nicola; Verhelst, Helene; Petrak, Borivoj; Pedespan, Jean-Michel; Witt, Olaf; Castellana, Ramon; Crippa, Stefania; Gislimberti, Gabriella; Gyorsok, Zsuzsanna

Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia

编码衔接蛋白1复合物σ2亚基的AP1S2基因突变与伴有脑积水和基底神经节钙化的X连锁综合征型智力低下有关。

Saillour, Y; Zanni, G; Des Portes, V; Heron, D; Guibaud, L; Iba-Zizen, M T; Pedespan, J L; Poirier, K; Castelnau, L; Julien, C; Franconnet, C; Bonthron, D; Porteous, M E; Chelly, J; Bienvenu, T