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

The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis

法国多中心队列研究中2563例癫痫患者接受基因诊断的临床和遗传特征

de Sainte Agathe, Jean-Madeleine; Monin, Pauline; Riccardi, Florence; Nava, Caroline; Arnaud, Lionel; Mignot, Cyril; Ville, Dorothée; Auvin, Stéphane; Tardieu, Sandrine; Larcher, Kathy; Gourfinkel-An, Isabelle; Canon, Mathilde; Navarro, Vincent; Héron, Bénédicte; Julia, Sophie; Doummar, Diane; Jacquemont, Marie-Line; Maurey, Hélène; Dozières-Puyravel, Blandine; Perrin, Laurence; Pasquier, Laurent; Dubourg, Christèle; Odent, Sylvie; Bouazzaoui, Abdelhakim; Carre, Wilfrid; Fradin, Mélanie; Demurger, Florence; Chatron, Nicolas; Sanlaville, Damien; Essid, Miriam; Portes, Vincent des; Panagiotakaki, Eleni; Poulat, Anne-Lise; Rivier, Clotilde; Sarret, Catherine; Remerand, Ganaëlle; Altuzarra, Cecilia; Stoeva, Radka; Nguyen, Sylvie; Piard, Juliette; Boucher, Élise; Flurin, Vincent; Guerrot, Anne-Marie; Joriot, Sylvie; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Camus, Caroline Hachon-Le; Villard, Laurent; Faoucher, Marie; Milh, Mathieu; Lesca, Gaëtan; Leguern, Éric

Transient expression of fluorescent proteins and Cas nucleases in Phytophthora agathidicida via PEG-mediated protoplast transformation.

通过 PEG 介导的原生质体转化在疫霉菌中瞬时表达荧光蛋白和 Cas 核酸酶

Hayhurst Max, Vink Jochem N A, Remerand Maxence, Gerth Monica L

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

与神经发育障碍相关的GRIN1变异揭示了通道门控致病机制

Ragnarsson, Lotten; Zhang, Zihan; Das, Sooraj S; Tran, Poanna; Andersson, Åsa; des Portes, Vincent; Desmettre Altuzarra, Cecilia; Remerand, Ganaelle; Labalme, Audrey; Chatron, Nicolas; Sanlaville, Damien; Lesca, Gaetan; Anggono, Victor; Vetter, Irina; Keramidas, Angelo

Effect of intravenous almitrine on intubation or mortality in patients with COVID-19 acute hypoxemic respiratory failure: A multicentre, randomised, double-blind, placebo-controlled trial

静脉注射阿米曲林对 COVID-19 急性低氧性呼吸衰竭患者插管或死亡率的影响:一项多中心、随机、双盲、安慰剂对照试验

Kalfon, Pierre; Payen, Jean-François; Rousseau, Alexandra; Chousterman, Benjamin; Cachanado, Marine; Tibi, Annick; Audibert, Juliette; Depret, François; Constantin, Jean-Michel; Weiss, Emmanuel; Remerand, Francis; Freund, Yonathan; Simon, Tabassome; Riou, Bruno

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9

FGF14相关性发作性共济失调:阐明9型发作性共济失调的表型

Piarroux, Julie; Riant, Florence; Humbertclaude, Véronique; Remerand, Ganaelle; Hadjadj, Jessica; Rejou, Franck; Coubes, Christine; Pinson, Lucile; Meyer, Pierre; Roubertie, Agathe

New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes

SYT2 中的新隐性突变导致严重的突触前先天性肌无力综合征

Stéphanie Bauché, Alain Sureau, Damien Sternberg, John Rendu, Céline Buon, Julien Messéant, Myriam Boëx, Denis Furling, Julien Fauré, Xénia Latypova, Antoinette Bernabe Gelot, Michèle Mayer, Pierre Mary, Sandra Whalen, Emmanuel Fournier, Isabelle Cloix, Ganaelle Remerand, Fanny Laffargue, Marie-Chri

High-flow nasal oxygenation versus standard oxygenation for gastrointestinal endoscopy with sedation. The prospective multicentre randomised controlled ODEPHI study protocol

高流量鼻氧疗与标准氧疗在镇静下进行胃肠内镜检查中的比较:前瞻性多中心随机对照ODEPHI研究方案

Eugene, Axelle; Fromont, Lucie; Auvet, Adrien; Baert, Olivier; Mfam, Willy-Serge; Remerand, Francis; Boulain, Thierry; Nay, Mai-Anh

Enhanced Amikacin Diffusion With Ultrasound and Microbubbles in a Mechanically Ventilated Condensed Lung Rabbit Model

在机械通气兔肺浓缩模型中,超声和微泡增强阿米卡星的扩散

Espitalier, Fabien; Darrouzain, François; Escoffre, Jean-Michel; Ternant, David; Piver, Eric; Bouakaz, Ayache; Remerand, Francis

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

突触前高亲和力胆碱转运体受损导致先天性肌无力综合征和发作性呼吸暂停

Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre,