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

Recanalization Treatments for Pediatric Acute Ischemic Stroke in France

法国儿童急性缺血性卒中再通治疗

Kossorotoff, Manoëlle; Kerleroux, Basile; Boulouis, Grégoire; Husson, Béatrice; Tran Dong, Kim; Eugene, François; Damaj, Lena; Ozanne, Augustin; Bellesme, Céline; Rolland, Anne; Bourcier, Romain; Triquenot-Bagan, Aude; Marnat, Gaultier; Neau, Jean-Philippe; Joriot, Sylvie; Perez, Alexandra; Guillen, Maud; Perivier, Maximilien; Audic, Frederique; Hak, Jean François; Denier, Christian; Naggara, Olivier

Highlighting the Dystonic Phenotype Related to GNAO1

重点关注与GNAO1相关的肌张力障碍表型

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando Jr; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

柠檬激酶突变导致隐性小脑错构症和多核神经元

Brian N Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S Chitty, Alain Verloes, Pierre Gressens, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie L Bielas

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

13名携带CASK基因突变的男孩和女孩的脑桥小脑发育不全谱系:可识别表型的证实及男性嵌合体患者的首次描述

Burglen, Lydie; Chantot-Bastaraud, Sandra; Garel, Catherine; Milh, Mathieu; Touraine, Renaud; Zanni, Ginevra; Petit, Florence; Afenjar, Alexandra; Goizet, Cyril; Barresi, Sabina; Coussement, Aurélie; Ioos, Christine; Lazaro, Leila; Joriot, Sylvie; Desguerre, Isabelle; Lacombe, Didier; des Portes, Vincent; Bertini, Enrico; Siffroi, Jean-Pierre; de Villemeur, Thierry Billette; Rodriguez, Diana