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

Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1

Nusinersen 与基因疗法在 1 型脊髓性肌萎缩症中的临床疗效比较

Ropars, Juliette; Cances, Claude; Garcia-Uzquiano, Rocio; Gomez-Garcia de la Banda, Marta; Barnerias, Christine; Audic, Frédérique; Durigneux, Julien; Halbert, Cécile; Nkam, Lionelle; Laugel, Vincent; Espil, Caroline; Walther-Louvier, Ulrike; Davion, Jean-Baptiste; Isapof, Arnaud; Le Goff, Laure; Desguerre, Isabelle; Quijano-Roy, Susana; Grimaldi, Lamiae

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

The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering

夏科-马里-图斯 4G 病中的己糖激酶 1 5'-UTR 突变会改变己糖激酶 1 与电压依赖性阴离子通道 1 的结合,并导致线粒体钙缓冲功能障碍

Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Tanya Stojkovic, Françoise Bouhour, Philippe Latour, Nicolas Tricaud

Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL(TM)3.0DMDfv)

对儿童生活质量量表(PedsQL(TM)3.0DMDfv)杜氏肌营养不良症模块法语版的验证性研究

Wallach, Elisabeth; Ehlinger, Virginie; Biotteau, Maelle; Walther-Louvier, Ulrike; Péréon, Yann; Vuillerot, Carole; Fontaine, Stephanie; Sabouraud, Pascal; Espil-Taris, Caroline; Cuisset, Jean-Marie; Laugel, Vincent; Baudou, Eloïse; Arnaud, Catherine; Cances, Claude

HINT1 neuropathy: Expanding the genotype and phenotype spectrum

HINT1神经病变:扩展基因型和表型谱

Morel, Victor; Campana-Salort, Emmanuelle; Boyer, Amandine; Esselin, Florence; Walther-Louvier, Ulrike; Querin, Giorgia; Latour, Philippe; Lia, Anne-Sophie; Magdelaine, Corinne; Beze-Beyrie, Pierre; Behin, Anthony; Delague, Valérie; Levy, Nicolas; Stojkovic, Tanya; Attarian, Shahram; Bonello-Palot, Nathalie

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

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

NEDD4L 的 HECT 结构域突变导致 AKT-mTOR 通路失调并引起脑室周围结节性异位

Loïc Broix #, Hélène Jagline #, Ekaterina Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T Pagnamenta, Kay A Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen