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

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

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

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

在脊髓性肌萎缩症1型患者中,onasemnogene abeparvovec单药治疗的真实世界多学科疗效:法国队列在治疗前三年的经验

Desguerre, Isabelle; Barrois, Rémi; Audic, Frédérique; Barnerias, Christine; Chabrol, Brigitte; Davion, Jean Baptiste; Durigneux, Julien; Espil-Taris, Caroline; Gomez-Garcia de la Banda, Marta; Guichard, Marine; Isapof, Arnaud; Nougues, Marie Christine; Laugel, Vincent; Le Goff, Laure; Mercier, Sandra; Pervillé, Anne; Richelme, Christian; Thibaud, Marie; Sarret, Catherine; Schweitzer, Cyril; Testard, Hervé; Trommsdorff, Valérie; Vanhulle, Catherine; Walther-Louvier, Ulrike; Altuzarra, Cécilia; Chouchane, Mondher; Ropars, Juliette; Quijano-Roy, Susana; Cances, Claude

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

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

An All-Dielectric Metasurface Polarimeter

全介质超表面极化仪

Shah, Yash D; Dada, Adetunmise C; Grant, James P; Cumming, David R S; Altuzarra, Charles; Nowack, Thomas S; Lyons, Ashley; Clerici, Matteo; Faccio, Daniele

First Case of a Cerebrocortical Ganglioglioma in a Dog

犬脑皮质神经节胶质瘤首例病例报告

Martín, Laura; Pumarola, Martí; Altuzarra, Raúl; Espinosa, Javier; Ortega, María

Parvovirus Infection Triggering Still's Disease

细小病毒感染引发斯蒂尔病

Altuzarra-Ranedo, Yaiza; Gómez-Ramírez, Daniel; Rodríguez-Laguna, María; Lois-Bermejo, Pía Mercedes; López-Pelaez, Blanca; Lorenzo-Villalba, Noel; Méndez-Bailon, Manuel

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

一项法国真实世界观察研究:123名患有1型或2型脊髓性肌萎缩症(SMA)的儿童接受诺西那生治疗一年后的疗效

Audic, Frédérique; de la Banda, Marta Gomez Garcia; Bernoux, Delphine; Ramirez-Garcia, Paola; Durigneux, Julien; Barnerias, Christine; Isapof, Arnaud; Cuisset, Jean-Marie; Cances, Claude; Richelme, Christian; Vuillerot, Carole; Laugel, Vincent; Ropars, Juliette; Altuzarra, Cécilia; Espil-Taris, Caroline; Walther-Louvier, Ulrike; Sabouraud, Pascal; Chouchane, Mondher; Vanhulle, Catherine; Trommsdorff, Valérie; Pervillé, Anne; Testard, Hervé; Lagrue, Emmanuelle; Sarret, Catherine; Avice, Anne-Laude; Beze-Beyrie, Pierre; Pauly, Vanessa; Quijano-Roy, Susana; Chabrol, Brigitte; Desguerre, Isabelle

Evaluation of dialysis centres: values and criteria of the stakeholders

透析中心评估:利益相关者的价值观和标准

Parra, Eduardo; Arenas, María Dolores; Fernandez-Reyes Luis, María José; Blasco Forcén, Angel; Alvarez-Ude, Fernando; Aguarón Joven, Juan; Altuzarra Casas, Alfredo; Moreno-Jiménez, José María