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

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome

FSD1L基因的双等位基因变异会导致一种与L1综合征症状重叠的神经发育障碍。

Serpieri, Valentina; Vezain-Mouchard, Myriam; Orsi, Alessia; Lecointre, Maryline; Mazzotta, Concetta; Marguet, Florent; Garbelli, Anna; Marcorelles, Pascale; Celli, Ludovica; Goldenberg, Alice; De Mori, Roberta; Drouot, Nathalie; Petrizzelli, Francesco; Janin, François; Nicolas, Gaël; Smal, Noor; Condoluci, Claudia; Marini, Carla; Tran-Mau-Them, Frederic; Ruault, Valentin; Micalizzi, Alessia; Bione, Silvia; Mazza, Tommaso; Pichiecchio, Anna; Ginevrino, Monia; Weckhuysen, Sarah; Bedois, Alice; Desnous, Béatrice; Hermitte, Laurent; Rabie, Grace; Kanaan, Moien; Gonzalez, Bruno J; Sabbioneda, Simone; Laquerrière, Annie; Saugier-Veber, Pascale; Valente, Enza Maria

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria

有机酸尿症患儿左心室整体纵向应变改变:有机酸尿症心脏病

Moysset, Bastien; Hoebeke, Célia; Chabrol, Brigitte; Carles, Guillaume; Desnous, Beatrice; Blanc, Julie Delphine; Ovaert, Caroline; El Louali, Fedoua

Event-Related Brain Potentials and Frequency-Following Response to Syllables in Newborns and Adults

新生儿和成人对音节的事件相关脑电位和频率跟随反应

Danielou, G; Hervé, E; Dubarry, A S; Desnous, B; François, C

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

Burst of gyrification in the human brain after birth

出生后人类大脑中脑回的爆发式发展

Mihailov, Angeline; Pron, Alexandre; Lefèvre, Julien; Deruelle, Christine; Desnous, Béatrice; Bretelle, Florence; Manchon, Aurélie; Milh, Mathieu; Rousseau, François; Girard, Nadine; Auzias, Guillaume

Electroencephalography and optical neuromonitoring predict short-term outcomes in neonates undergoing therapeutic hypothermia for hypoxic-ischemic encephalopathy

脑电图和光学神经监测可预测接受治疗性低温疗法治疗缺氧缺血性脑病的新生儿的短期预后。

Chowdhury, Rasheda Arman; Mahdi, Zamzam; Desnous, Beatrice; Marandyuk, Bohdana; Birca, Ala; El-Jalbout, Ramy; Nuyt, Anne-Monique; Pinchefsky, Elana F; Dehaes, Mathieu

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

The Two Faces of Pediatric SCA2

儿童SCA2的两面性

Rive Le Gouard, Nicolas; G Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne-Laure; de Sainte-Agathe, Jean-Madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J A Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

Motor Unit Number Index (MUNIX) in Control Children: Reference Values and Reliability

对照组儿童运动单元数量指数(MUNIX):参考值和可靠性

Boulay, Christophe; Delmont, Emilien; Audic, Frédérique; Halbert, Cécile; Pesenti, Sébastien; Chabrol, Brigitte; Desnous, Béatrice; Attarian, Shahram

Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI

一组患有药物难治性新生儿癫痫且脑部MRI检查结果为阴性的患者的长期预后

Beretti, Thibault; Rozalen, William; Villard, Laurent; Riccardi, Florence; Daquin, Geraldine; Lepine, Anne; Villeneuve, Nathalie; Milh, Mathieu; Desnous, Béatrice