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

Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism

RAB39B相关帕金森病患者的不对称性顶叶皮质萎缩

Gallo, Luca; Ben Mansour, Emna; Nicolosi, Silvia; Pichiecchio, Anna; Gana, Simone; Ben Sassi, Samia; Cristina, Silvano; Avenali, Micol; Valente, Enza Maria

High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies

重症肌无力患者若存在I型干扰素自身抗体,则发生低氧性COVID-19肺炎的风险较高

Gervais, Adrian; Marchal, Astrid; Maillard, Alexis; Le Voyer, Tom; Rosain, Jérémie; Philipot, Quentin; Bizien, Lucy; Peel, Jessica; Cederholm, Axel; Migaud, Mélanie; Pons, Sylvie; Saker, Kahina; Laforet, Pascal; Aubart, Mélodie; Gitiaux, Cyril; Biggs, Catherine; Leon Lopez, Rafael; Souvannanorath, Sarah; Tard, Céline; Nadaj Pakleza, Aleksandra; Grapperon, Aude-Marie; Heming, Nicholas; Annane, Djillali; Verschueren, Annie; Attarian, Shahram; Bigaut, Kévin; Hankiewicz, Karolina; Kouton, Ludivine; Villar-Quiles, Rocio-Nur; Cauquil, Cécile; Fleury, Marie-Céline; Rocher, Emilie; Nicolas, Guillaume; de Paula Estephan, Eduardo; da Penha Ananias Morita, Maria; Zanoteli, Edmar; Saied, Zakaria; Rachdi, Amine; Rim, Amouri; Belal, Samir; Ben Sassi, Samia; Hübers, Annemarie; Faure, Emmanuel; Desguerre, Isabelle; Basse, Clémence; Girard, Nicolas; Béziat, Vivien; Pan-Hammarström, Qiang; Hammarström, Lennart; Bodansky, Aaron; Parent, Audrey V; Anderson, Mark S; DeRisi, Joseph L; Demeret, Sophie; Truffault, Frédérique; Fort, Romain; Ader, Florence; Wallet, Florent; Abel, Laurent; Molina, Thierry; Alyanakian, Marie-Alexandra; Le Panse, Rozen; Solé, Guilhem; Cobat, Aurélie; Landegren, Nils; Casanova, Jean-Laurent; Puel, Anne; Bastard, Paul; Jouanguy, Emmanuelle

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report

肌原纤维肌病8型,症状类似肢带型肌营养不良:首例突尼斯病例报告

Majoul, Mohamed Slim; Zouari, Rania; Hassine, Anis; Mokni, Moncef; Ben Sassi, Samia

Improved tumor-type informed compared to tumor-informed mutation tracking for ctDNA detection and microscopic residual disease assessment in epithelial ovarian cancer

与仅基于肿瘤类型的突变追踪方法相比,基于肿瘤类型的突变追踪方法可提高上皮性卵巢癌中ctDNA检测和显微镜下残留病灶评估的准确性。

Ben Sassi, Mehdi; Azais, Henri; Marcaillou, Charles; Guibert, Sylvain; Martin, Emmanuel; Alexandre, Jérôme; Benoit, Louise; de Reynies, Aurélien; Laude, Emilie; Duong, Cam; Medioni, Jacques; Borghese, Bruno; Bats, Anne-Sophie; Taly, Valerie; Laurent-Puig, Pierre

Anti-HMGCR myopathy: a first case report from North Africa and literature insights

抗HMGCR肌病:北非首例病例报告及文献综述

Abida, Houssem; Zamali, Imen; Rachdi, Imène; Saied, Zakaria; Ben Hmid, Ahlem; Samoud, Samar; Galai, Yousr; Daoud, Fatma; Boussema, Fatma; Ben Sassi, Samia; Aydi, Zohra; Ben Ahmed, Mélika

High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature

突尼斯非典型溶血性尿毒综合征患者中热点补体因子I p.Ile357Met致病变异的高流行率:三例新病例报告及文献复习

Tajouri, Asma; Ayadi, Imen; BenBrahim, Rimeh; Mami, Ikram; Boussetta, Abir; Jlajla, Hend; Zerzeri, Yousr; Arbi Sassi, Haifa; Ben Sassi, Jamila; Sahli, Hela; Laadhar, Lilia; Gargah, Tahar; Zouaghi, Mohamed Karim; Kallel Sellami, Maryam

French-Speaking Network of Pharmacogenetics (RNPGx) Recommendations for Clinical Use of Mavacamten

法国药物遗传学网络(RNPGx)关于马伐卡门临床应用的建议

Lebreton, Louis; Boyer, Jean-Christophe; Lafay-Chebassier, Claire; Hennart, Benjamin; Baklouti, Sarah; Cunat, Séverine; Vilquin, Paul; Medard, Yves; Gautier-Veyret, Elodie; Laffitte-Redondo, Clara; Verstuyft, Céline; Ait Tayeb, Abd El Kader; Haufroid, Vincent; Wils, Julien; Lamoureux, Fabien; Evrard, Alexandre; Davaze-Schneider, Julie; Ben-Sassi, Mouna; Picard, Nicolas; Quaranta, Sylvie; Ayme-Dietrich, Estelle

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope

突尼斯一个家族中磷酸甘露糖变位酶2型先天性糖基化障碍的轻度共济失调显性表型:扩大地理范围

Zouari, Rania; Hlioui, Loua; Saied, Mohamed Zakaria; Ben Mohamed, Dina; Ben Sassi, Samia; Amouri, Rim

A Complex Case Report of OHVIRA syndrome: Uterine didelphys, obstructed hemivagina, and renal agenesis

OHVIRA综合征复杂病例报告:双子宫、半阴道梗阻和肾脏发育不全

Abdelmoula, Ghada; Ragmoun, Houssem; Bezzine, Meriem; Hafsi, Montacer; Abdallah, Ikram Ben; Sassi, Elaa

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

罕见但重要:评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Keller Sarmiento, Ignacio Juan; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Ben Sassi, Samia; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine