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

Intracutaneous Amyloid Deposition is Associated With Nerve Conduction Studies Deterioration in Presumed Asymptomatic Pathogenic Variant TTR Carriers

皮内淀粉样蛋白沉积与假定无症状致病性TTR变异携带者的神经传导研究结果恶化相关

Schulz, Nina; Beauvais, Diane; Cauquil, Cécile; Labeyrie, Céline; Iliescu, Iulia; Francou, Bruno; Adam, Clovis; Echaniz-Laguna, Andoni; Leonardi, Luca; Algalarrondo, Vincent; Adams, David; Beaudonnet, Guillemette

TTR Gene Screening Since the Advent of Biotherapies in France: A Nationwide Retrospective Survey Between 2018 and 2023

法国生物疗法出现以来TTR基因筛查:2018年至2023年全国回顾性调查

Ait Tayeb, Abd El Kader; Chazelas, Pauline; Poinsignon, Vianney; Adams, David; Berthot, Caroline; Cauquil, Cécile; Dhaenens, Claire-Marie; Francou, Bruno; Jedraszak, Guillaume; Labeyrie, Céline; Redondo, Clara Laffitte; Lia, Anne-Sophie; Lopez, Maureen; Proust, Alexis; Sturtz, Franck; Tosca, Lucie; Verstuyft, Céline; Echaniz-Laguna, Andoni; Bouligand, Jérôme

Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis

比较两种用于肥厚型心肌病诊断的基因检测策略:对法布里病或转甲状腺素蛋白淀粉样变性诊断的影响

Palmyre, Aurélien; Koraichi, Fairouz; Ader, Flavie; Donal, Erwan; Bordet, Céline; de Groote, Pascal; Faivre, Laurence; Reant, Patricia; Toutain, Annick; Nguyen, Karine; Isidor, Bertrand; Brehin, Anne-Claire; Legrand, Lise; Gandjbakhch, Estelle; Proukhnitzky, Julie; Isnard, Richard; Mansencal, Nicolas; Pruny, Jean-François; Rabes, Jean-Pierre; Francou, Bruno; Caillaud, Catherine; Richard, Pascale; Charron, Philippe

Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers

详细的临床、生理和病理表型分析可以影响ATTR基因携带者获得疾病修饰治疗的机会。

Beauvais, Diane; Labeyrie, Céline; Cauquil, Cécile; Francou, Bruno; Eliahou, Ludivine; Not, Adeline; Echaniz-Laguna, Andoni; Adam, Clovis; Slama, Michel S; Benmalek, Anouar; Leonardi, Luca; Rouzet, François; Adams, David; Algalarrondo, Vincent; Beaudonnet, Guillemette

Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy

非淀粉样变性TTR基因变异c.76G>A和c.337-18G>C与特发性小纤维神经病无关。

Konecki, Céline; Francou, Bruno; Chappell, Kenneth; Augey, Lucie; Beaudonnet, Guillemette; Cauquil, Cécile; Dimitri-Boulos, Dalia; Not, Adeline; Adam, Clovis; Poinsignon, Vianney; Verstuyft, Céline; Adams, David; Echaniz-Laguna, Andoni; Labeyrie, Céline

Primary mitochondrial disorders and mimics: Insights from a large French cohort

原发性线粒体疾病及其类似疾病:来自法国大型队列研究的启示

Rouzier, Cécile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Céline; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valérie; Gueguen, Naïg; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurélien; Hardy, Gaëlle; Allouche, Stéphane; Acquaviva-Bourdain, Cécile; Pagan, Cécile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Véronique; Procaccio, Vincent

A ratchet-like apical constriction drives cell ingression during the mouse gastrulation EMT

棘轮状顶端收缩在小鼠原肠胚形成 EMT 期间驱动细胞进入

Alexandre Francou, Kathryn V Anderson, Anna-Katerina Hadjantonakis

Aberrant differentiation of second heart field mesoderm prefigures cellular defects in the outflow tract in response to loss of FGF8

第二心脏中胚层的异常分化预示着由于 FGF8 缺失而导致的流出道细胞缺陷

Sophie Astrof, Cecilia Arriagada, Yukio Saijoh, Alexandre Francou, Robert G Kelly, Anne Moon

Data in experimental stand-alone microgrid: Solar production, domestic loads, battery storage and meteorological series

实验性独立微电网的数据:太阳能发电量、家庭负荷、电池储能和气象序列

Calogine, Didier; Francou, Johann; Abbezzot, Cedric; Fanjirindratovo, Tovondahiniriko

Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone

低钙血症患者中发现甲状旁腺激素中 Ser-1 至 Pro-1 纯合突变,导致分泌一种生物无活性的激素原

Patrick Hanna, Ashok Khatri, Shawn Choi, Severine Brabant, Matti L Gild, Marie L Piketty, Bruno Francou, Dominique Prié, John T Potts Jr, Roderick J Clifton-Bligh, Agnès Linglart, Thomas J Gardella, Harald Jüppner