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

GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features

GABRA2相关性脑病:两种具有独特电临床特征的表型鉴定

Adamo-Croux, Marie; Angelini, Chloé; Aupy, Jérôme; Villard, Laurent; Villeneuve, Nathalie; Chefdor, Arnaud; Halleb, Yorsa; Colmard, Maxime; Degoutin, Manon; Lesca, Gaetan; Charles, Perrine; Keren, Boris; Chemaly, Nicole; Goizet, Cyril; Milh, Mathieu; Bar, Claire

kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with γ-aminobutyric acid dysregulation.

斑马鱼中 kcnb1 功能丧失会导致与 α-氨基丁酸失调相关的神经发育和癫痫疾病

Robichon Lauralee, Bar Claire, Marian Anca, Lehmann Lisa, Renault Solène, Kabashi Edor, Ciura Sorana, Nabbout Rima

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

病例报告:揭示非酮症性高甘氨酸血症的遗传和表型变异:一例与新型GLRX5变异相关的非典型早发型病例

Marin, Victor; Lebreton, Louis; Guibet, Claire; Mesli, Samir; Redonnet-Vernhet, Isabelle; Dexant, Mathurin; Lamireau, Delphine; Roche, Sandrine; Gaschignard, Margaux; Delmas, Jean; Margot, Henri; Bar, Claire

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

IQSEC2相关脑病在男性和女性中的比较研究:一项纳入37例新患者的研究

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn; Minassian, Berge A; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper J; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S; Lesca, Gaetan; Helbig, Katherine L; Nabbout, Rima; Verbeek, Nienke E; Depienne, Christel

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

更正:IQSEC2相关脑病在男性和女性中的比较研究,纳入37例新患者

Mignot, Cyril; McMahon, Aoife C; Bar, Claire; Campeau, Philippe M; Davidson, Claire; Buratti, Julien; Nava, Caroline; Jacquemont, Marie-Line; Tallot, Marilyn; Milh, Mathieu; Edery, Patrick; Marzin, Pauline; Barcia, Giulia; Barnerias, Christine; Besmond, Claude; Bienvenu, Thierry; Bruel, Ange-Line; Brunga, Ledia; Ceulemans, Berten; Coubes, Christine; Cristancho, Ana G; Cunningham, Fiona; Dehouck, Marie-Bertille; Donner, Elizabeth J; Duban-Bedu, Bénédicte; Dubourg, Christèle; Gardella, Elena; Gauthier, Julie; Geneviève, David; Gobin-Limballe, Stéphanie; Goldberg, Ethan M; Hagebeuk, Eveline; Hamdan, Fadi F; Hančárová, Miroslava; Hubert, Laurence; Ioos, Christine; Ichikawa, Shoji; Janssens, Sandra; Journel, Hubert; Kaminska, Anna; Keren, Boris; Koopmans, Marije; Lacoste, Caroline; Laššuthová, Petra; Lederer, Damien; Lehalle, Daphné; Marjanovic, Dragan; Métreau, Julia; Michaud, Jacques L; Miller, Kathryn; Minassian, Berge A; Morales, Joannella; Moutard, Marie-Laure; Munnich, Arnold; Ortiz-Gonzalez, Xilma R; Pinard, Jean-Marc; Prchalová, Darina; Putoux, Audrey; Quelin, Chloé; Rosen, Alyssa R; Roume, Joelle; Rossignol, Elsa; Simon, Marleen E H; Smol, Thomas; Shur, Natasha; Shelihan, Ivan; Štěrbová, Katalin; Vyhnálková, Emílie; Vilain, Catheline; Soblet, Julie; Smits, Guillaume; Yang, Samuel P; van der Smagt, Jasper J; van Hasselt, Peter M; van Kempen, Marjan; Weckhuysen, Sarah; Helbig, Ingo; Villard, Laurent; Héron, Delphine; Koeleman, Bobby; Møller, Rikke S; Lesca, Gaetan; Helbig, Katherine L; Nabbout, Rima; Verbeek, Nienke E; Depienne, Christel