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

Cellular Functional Analyses of ARX Variants Reveal New Insights Into Genotype-Phenotype Correlations in Neurodevelopmental Disorders Among Male and Female Patients.

对 ARX 变异体的细胞功能分析揭示了男性和女性患者神经发育障碍中基因型-表型相关性的新见解。

Faraj Rasha, Farrugia Audrey, Hurst Anna C E, Conan Pierre, Martin Jennifer, Schalk Audrey, Redon Sylvia, Dubos Aline, Gras Mathilde, Curie Aurore, Voisset Cécile, Friocourt Gaëlle

Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals

绕过孟德尔第一定律:哺乳动物的遗传传递比畸变

Friocourt, Gaëlle; Perrin, Aurore; Saunders, Paul A; Nikalayevich, Elvira; Voisset, Cécile; Coutton, Charles; Martinez, Guillaume; Morel, Frédéric

Letter to the Editor: Launch of a 2022-2024 National Plan Against Falls in Older Persons in France

致编辑的信:法国启动2022-2024年老年人防跌倒国家计划

Blain, H; Annweiler, C; Berrut, G; Bernard, P L; Bousquet, J; Dargent-Molina, P; Friocourt, P; Puisieux, F; Robiaud, J-B; Rolland, Y

New insights into the regulation of Cystathionine beta synthase (CBS), an enzyme involved in intellectual deficiency in Down syndrome

对胱硫醚β合酶(CBS)调节的新见解,CBS是一种与唐氏综合症智力缺陷有关的酶

Pierre Conan, Alice Léon, Noéline Caroff, Claire Rollet, Loubna Chaïr, Jennifer Martin, Frédéric Bihel, Olivier Mignen, Cécile Voisset, Gaëlle Friocourt

Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses

人类胎儿暴露于酒精后,少突胶质细胞谱系受到严重影响

Florent Marguet, Mélanie Brosolo, Gaëlle Friocourt, Fanny Sauvestre, Pascale Marcorelles, Céline Lesueur, Stéphane Marret, Bruno J Gonzalez, Annie Laquerrière

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

ATP5PO 中的纯合剪接变体会破坏线粒体复合体 V 的功能,并在两个不相关的家庭中引起 Leigh 综合征

Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blond

Anti-prion Drugs Targeting the Protein Folding Activity of the Ribosome Reduce PABPN1 Aggregation

针对核糖体蛋白质折叠活性的抗朊病毒药物可减少 PABPN1 聚集

Aline Bamia #, Maha Sinane #, Rima Naït-Saïdi #, Jamila Dhiab #, Marc Keruzoré, Phu Hai Nguyen, Agathe Bertho, Flavie Soubigou, Sophie Halliez, Marc Blondel, Capucine Trollet, Martine Simonelig, Gaëlle Friocourt, Vincent Béringue, Frédéric Bihel #, Cécile Voisset #

p53, A Victim of the Prion Fashion

第53页,《朊病毒时尚的受害者》

Billant, Olivier; Friocourt, Gaëlle; Roux, Pierre; Voisset, Cécile

Prenatal alcohol exposure is a leading cause of interneuronopathy in humans

产前酒精暴露是人类中间神经元病变的主要原因之一。

Marguet, Florent; Friocourt, Gaëlle; Brosolo, Mélanie; Sauvestre, Fanny; Marcorelles, Pascale; Lesueur, Céline; Marret, Stéphane; Gonzalez, Bruno J; Laquerrière, Annie

A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects

基于酵母的筛选试验可鉴定出抑制线粒体融合和线粒体 DNA 维护缺陷的再利用药物

Thomas Delerue, Déborah Tribouillard-Tanvier, Marlène Daloyau, Farnoosh Khosrobakhsh, Laurent Jean Emorine, Gaëlle Friocourt, Pascale Belenguer, Marc Blondel, Laetitia Arnauné-Pelloquin