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

Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

前瞻性多中心验证一种用于诊断GLUT1缺乏综合征的简易血液检测方法

Mochel, Fanny; Gras, Domitille; Luton, Marie-Pierre; Nizou, Manon; Giovannini, Donatella; Delattre, Caroline; Aubart, Mélodie; Barth, Magalie; De Saint-Martin, Anne; Doummar, Diane; Essid, Nouha; Garros, Alexa; Le Camus, Caroline Hachon; Hoebeke, Celia; The Tich, Sylvie Nguyen; Perivier, Maximilien; Rivera, Serge; Rolland, Anne; Roubertie, Agathe; Sarret, Catherine; Sevin, Caroline; Ville, Dorothee; Sitbon, Marc; Costa, Jean-Marc; Pons, Roser; Garcia-Cazorla, Angels; Vuillaumier, Sandrine; Petit, Vincent; Boespflug-Tanguy, Odile; De Vivo, Darryl C

Multiparametric characterization of white matter alterations in early stage Huntington disease

亨廷顿病早期白质改变的多参数表征

Adanyeguh, Isaac M; Branzoli, Francesca; Delorme, Cécile; Méneret, Aurélie; Monin, Marie-Lorraine; Luton, Marie-Pierre; Durr, Alexandra; Sabidussi, Emanoel; Mochel, Fanny

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy

对脑和脊髓进行多参数体内分析,可识别肾上腺脊髓神经病男性患者的结构和代谢生物标志物。

Adanyeguh, Isaac M; Lou, Xiaofang; McGovern, Eavan; Luton, Marie-Pierre; Barbier, Magali; Yazbeck, Elise; Valabregue, Romain; Deelchand, Dinesh; Henry, Pierre-Gilles; Mochel, Fanny

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

对大量患有 GH 缺乏症的儿科患者进行筛查,以检测调节垂体发育和 GH 分泌的基因突变:频率、表型和生长结果

Blum Werner F, Klammt Jürgen, Amselem Serge, Pfäffle Heike M, Legendre Marie, Sobrier Marie-Laure, Luton Marie-Pierre, Child Christopher J, Jones Christine, Zimmermann Alan G, Quigley Charmian A, Cutler Gordon B Jr, Deal Cheri L, Lebl Jan, Rosenfeld Ron G, Parks John S, Pfäffle Roland W

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

简单的血液检查即可快速诊断葡萄糖转运蛋白1型缺乏症。

Gras, Domitille; Cousin, Christelle; Kappeler, Caroline; Fung, Cheuk-Wing; Auvin, Stéphane; Essid, Nouha; Chung, Brian Hy; Da Costa, Lydie; Hainque, Elodie; Luton, Marie-Pierre; Petit, Vincent; Vuillaumier-Barrot, Sandrine; Boespflug-Tanguy, Odile; Roze, Emmanuel; Mochel, Fanny

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene

GHRHR基因中一种新型剪接突变患者的异常表型特征

Hilal, Latifa; Hajaji, Yassir; Vie-Luton, Marie-Pierre; Ajaltouni, Zeina; Benazzouz, Bouchra; Chana, Maha; Chraïbi, Adelmajid; Kadiri, Abdelkrim; Amselem, Serge; Sobrier, Marie-Laure

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

家族性矮小症中生长激素促分泌素受体组成活性的丧失

Pantel, Jacques; Legendre, Marie; Cabrol, Sylvie; Hilal, Latifa; Hajaji, Yassir; Morisset, Séverine; Nivot, Sylvie; Vie-Luton, Marie-Pierre; Grouselle, Dominique; de Kerdanet, Marc; Kadiri, Abdelkrim; Epelbaum, Jacques; Le Bouc, Yves; Amselem, Serge