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

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series

PTPN1单倍体功能不全引起的自身炎症性脑病:病例系列

Zhu, Gaofeng; Didry-Barca, Blaise; Seabra, Luis; Rice, Gillian I; Uggenti, Carolina; Touimy, Moncef; Rodero, Mathieu P; Trapero, Rolando Hernandez; Bondet, Vincent; Duffy, Darragh; Gautier, Philippe; Livingstone, Katie; Sutherland, Fraser J H; Lebon, Pierre; Parisot, Mélanie; Bole-Feysot, Christine; Masson, Cécile; Cagnard, Nicolas; Nitschké, Patrick; Anderson, Glenn; Assmann, Birgit; Barth, Magalie; Boespflug-Tanguy, Odile; D'Arco, Felice; Dorboz, Imen; Giese, Thomas; Hacohen, Yael; Hancarova, Miroslava; Husson, Marie; Lepine, Anne; Lim, Ming; Mancardi, Maria Margherita; Melki, Isabelle; Neubauer, David; Sa, Mario; Sedlacek, Zdenek; Seitz, Angelika; Rottman, Mika Shapiro; Sanquer, Sylvia; Straussberg, Rachel; Vlčková, Markéta; Villéga, Frédéric; Wagner, Matias; Zerem, Ayelet; Marsh, Joseph A; Frémond, Marie-Louise; Kaliakatsos, Marios; Crow, Yanick J; El-Daher, Marie-Thérèse; Lepelley, Alice

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency

别嘌醇治疗可改善腺苷酸琥珀酸裂解酶缺乏症年轻患者的认知能力、适应性行为和生化指标

Rousselot-Pailley, Bérangère; Semeraro, Michaela; Marquant, Fabienne; Robel, Laurence; Gitiaux, Cyril; Kaminska, Anna; Mochel, Fanny; Bakouboula, Prissile; Elie, Caroline; Hennequin, Carole; Ceballos-Picot, Irène; Sanquer, Sylvia; de Lonlay, Pascale

Fasting upregulates the monocarboxylate transporter MCT1 at the rat blood-brain barrier through PPAR δ activation

禁食通过激活 PPAR δ 上调大鼠血脑屏障上的单羧酸转运体 MCT1

Stéphanie Chasseigneaux, Véronique Cochois-Guégan, Lucas Lecorgne, Murielle Lochus, Sophie Nicolic, Corinne Blugeon, Laurent Jourdren, David Gomez-Zepeda, Stefan Tenzer, Sylvia Sanquer, Valérie Nivet-Antoine, Marie-Claude Menet, Jean-Louis Laplanche, Xavier Declèves, Salvatore Cisternino, Bruno Saub

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

JAK抑制剂治疗Aicardi-Goutières综合征:一项单中心多学科真实世界研究

Frémond, Marie-Louise; Hully, Marie; Fournier, Benjamin; Barrois, Rémi; Lévy, Romain; Aubart, Mélodie; Castelle, Martin; Chabalier, Delphine; Gins, Clarisse; Sarda, Eugénie; Al Adba, Buthaina; Couderc, Sophie; D' Almeida, Céline; Berat, Claire-Marine; Durrleman, Chloé; Espil, Caroline; Lambert, Laetitia; Méni, Cécile; Périvier, Maximilien; Pillet, Pascal; Polivka, Laura; Schiff, Manuel; Todosi, Calina; Uettwiller, Florence; Lepelley, Alice; Rice, Gillian I; Seabra, Luis; Sanquer, Sylvia; Hulin, Anne; Pressiat, Claire; Goldwirt, Lauriane; Bondet, Vincent; Duffy, Darragh; Moshous, Despina; Bader-Meunier, Brigitte; Bodemer, Christine; Robin-Renaldo, Florence; Boddaert, Nathalie; Blanche, Stéphane; Desguerre, Isabelle; Crow, Yanick J; Neven, Bénédicte

Incursion Preparedness, Citizen Science and Early Detection of Invasive Insects: The Case of Aleurocanthus spiniferus (Hemiptera, Aleyrodidae) in France

入侵防范、公民科学与入侵昆虫的早期检测:以法国的棘刺粉虱(半翅目,粉虱科)为例

Streito, Jean-Claude; Mendes, Emilie; Sanquer, Emmanuel; Strugarek, Martin; Ouvrard, David; Robin-Havret, Victor; Poncet, Laurent; Lannou, Christian; Rossi, Jean-Pierre

Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

两例芳香族L-氨基酸脱羧酶缺乏症患者的壳核内基因递送

François-Heude, Marie-Céline; Poulen, Gaetan; Flamand Roze, Emmanuel; Nguyen Morel, Marie-Ange; Gras, Domitille; Roch-Toreilles, Isabelle; Quintard, Adeline; Baroux, Gaelle; Meyer, Pierre; Coubes, Philippe; Milesi, Christophe; Cambonie, Gilles; Baleine, Julien; Sola, Chrystelle; Delye, Bénédicte; Dimopoulou, Evgenia; Sanchez, Stéphanie; Gasnier, Mathieu; Touati, Souad; Zamora, Alberto; Pontal, Daniel; Leboucq, Nicolas; Kouyoumdjian, Virginie; Lebasnier, Adrien; Sanquer, Sylvia; Mariano-Goulart, Denis; Roujeau, Thomas; Roubertie, Agathe

Low-dose mycophenolate mofetil improves survival in a murine model of Staphylococcus aureus sepsis by increasing bacterial clearance and phagocyte function

低剂量吗替麦考酚酯可通过增加细菌清除率和吞噬细胞功能来提高金黄色葡萄球菌败血症小鼠模型的存活率。

Alby-Laurent, Fanny; Belaïdouni, Nadia; Blanchet, Benoit; Rousseau, Christophe; Llitjos, Jean-François; Sanquer, Sylvia; Mira, Jean-Paul; Pène, Frédéric; Toubiana, Julie; Chiche, Jean-Daniel

The equilibrative nucleoside transporter ENT1 is critical for nucleotide homeostasis and optimal erythropoiesis

平衡型核苷转运蛋白ENT1对核苷酸稳态和最佳红细胞生成至关重要。

Mikdar, Mahmoud; González-Menéndez, Pedro; Cai, Xiaoli; Zhang, Yujin; Serra, Marion; Dembele, Abdoul K; Boschat, Anne-Claire; Sanquer, Sylvia; Chhuon, Cerina; Guerrera, Ida Chiara; Sitbon, Marc; Hermine, Olivier; Colin, Yves; Le Van Kim, Caroline; Kinet, Sandrina; Mohandas, Narla; Xia, Yang; Peyrard, Thierry; Taylor, Naomi; Azouzi, Slim

Lack of Skeletal Muscle Serotonin Impairs Physical Performance

骨骼肌中血清素缺乏会损害运动表现

Falabrègue, Marion; Boschat, Anne-Claire; Jouffroy, Romain; Derquennes, Marieke; Djemai, Haidar; Sanquer, Sylvia; Barouki, Robert; Coumoul, Xavier; Toussaint, Jean-François; Hermine, Olivier; Noirez, Philippe; Côté, Francine

Impaired lymphocyte function and differentiation in CTPS1-deficient patients result from a hypomorphic homozygous mutation

CTPS1缺陷患者的淋巴细胞功能和分化受损是由低活性纯合突变引起的。

Martin, Emmanuel; Minet, Norbert; Boschat, Anne-Claire; Sanquer, Sylvia; Sobrino, Steicy; Lenoir, Christelle; de Villartay, Jean Pierre; Leite-de-Moraes, Maria; Picard, Capucine; Soudais, Claire; Bourne, Tim; Hambleton, Sophie; Hughes, Stephen M; Wynn, Robert F; Briggs, Tracy A; Patel, Smita; Lawrence, Monica G; Fischer, Alain; Arkwright, Peter D; Latour, Sylvain