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

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods

ACTA1相关成人起病肩胛腓骨肌病伴核心和棒状结构

Caramizaru, Alexandru; Onnée, Marion; Nikitin, Sergey; Dobrescu, Amelia; Severa, Gianmarco; Murtazina, Aysylu; Urtizberea, Andoni; Lefaucheur, Jean-Pascal; Carlier, Robert-Yves; Metay, Corinne; Malfatti, Edoardo

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Myotilin gene duplication causing late-onset myotilinopathy.

肌动蛋白基因重复导致迟发性肌动蛋白病

Spinazzi Marco, Savarese Marco, Letournel Franck, Sagath Lydia, Manero Florence, Guichet Agnès, Hoischen Alexander, Metay Corinne, Gouju Julien, Udd Bjarne

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.

一种与快速肌球蛋白重链缺乏相关的新型先天性多核肌联蛋白病

Perrin Aurélien, Metay Corinne, Villanova Marcello, Carlier Robert-Yves, Pegoraro Elena, Juntas Morales Raul, Stojkovic Tanya, Richard Isabelle, Richard Pascale, Romero Norma B, Granzier Henk, Koenig Michel, Malfatti Edoardo, Cossée Mireille

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

Xp11.22双重缺失(包括SHROOM4和CLCN5基因缺失)与严重的精神运动发育迟缓和Dent病相关。

Armanet, Narjes; Metay, Corinne; Brisset, Sophie; Deschenes, Georges; Pineau, Dominique; Petit, François M; Di Rocco, Federico; Goossens, Michel; Tachdjian, Gérard; Labrune, Philippe; Tosca, Lucie

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

三名患有14q22q23微缺失的儿童出现无眼症、听力丧失、垂体发育异常以及对生长激素治疗的反应

Brisset, Sophie; Slamova, Zuzana; Dusatkova, Petra; Briand-Suleau, Audrey; Milcent, Karen; Metay, Corinne; Simandlova, Martina; Sumnik, Zdenek; Tosca, Lucie; Goossens, Michel; Labrune, Philippe; Zemankova, Elsa; Lebl, Jan; Tachdjian, Gerard; Sedlacek, Zdenek

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

6例10p12p11区域部分重叠间质缺失患者的基因组和临床特征

Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A L; Chantot-Bastaraud, Sandra; Metay, Corinne; Andrieux, Joris; Annerén, Göran; Gijsbers, Antoinet C J; Druart, Luc; Hyon, Capucine; Portnoi, Marie-France; Stattin, Eva-Lena; Vincent-Delorme, Catherine; Kant, Sarina G; Steinraths, Michelle; Marlin, Sandrine; Giurgea, Irina; Thuresson, Ann-Charlotte

Reduced CD4 T cell activation and in vitro susceptibility to HIV-1 infection in exposed uninfected Central Africans.

暴露于 HIV-1 病毒但未感染的中非人群 CD4 T 细胞活化降低,体外对 HIV-1 感染的易感性降低

Bégaud Evélyne, Chartier Loïc, Marechal Valéry, Ipero Julienne, Léal Josianne, Versmisse Pierre, Breton Guillaume, Fontanet Arnaud, Capoulade-Metay Corinne, Fleury Hervé, Barré-Sinoussi Françoise, Scott-Algara Daniel, Pancino Gianfranco