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

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension

Lucerastat,一种用于治疗法布里病的口服药物:一项关键性随机3期研究及其开放标签扩展研究的结果

Nordbeck, Peter; Goker-Alpan, Ozlem; Bernat, John A; Germain, Dominique P; Giraldo, Pilar; Jovanovic, Ana; Kimonis, Virginia; Nicholls, Kathleen; Rockman-Greenberg, Cheryl; Schiffmann, Raphael; Thomas, Mark; Tylki-Szymanska, Anna; Wallace, Eric; Welford, Richard W D; West, Michael L; Clozel, Martine; Frey, Aline; Trokan, Luba; Mueller, Markus S; Vogler, Markus; Wanner, Christoph; Hughes, Derralynn

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变异与异染性脑白质营养不良患者的认知衰退和运动功能长期保留相关

Beerepoot, Shanice; Schoenmakers, Daphne H; Fumagalli, Francesca; Groeschel, Samuel; Schöls, Ludger; Schiffmann, Raphael; Wong, Sheila; Boespflug-Tanguy, Odile; Sevin, Caroline; Nadjar, Yann; Bley, Annette; Mochel, Fanny; Horn, Morten A; Baldoli, Cristina; Locatelli, Sara; Hengel, Holger; Laugwitz, Lucia; Hollak, Carla E M; Gieselmann, Volkmar; van der Knaap, Marjo S; Wolf, Nicole I

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

生物标志物在疾病诊断、疾病严重程度和进展评估以及疗效评价中的作用

Schiffmann, Raphael

Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment

从婴儿期到成年期的戈谢病3型:共济失调和认知障碍相关体征、症状和影响的概念模型

Schiffmann, Raphael; Turnbull, James; Krupnick, Robert; Pulikottil-Jacob, Ruth; Gwaltney, Chad; Hamed, Alaa; Batsu, Isabela; Heine, Walter; Mengel, Eugen

GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system

GDF15是中枢神经系统综合应激反应的动态生物标志物。

Asundi, Jyoti; Zhang, Chunlian; Donnelly-Roberts, Diana; Solorio, Josè Zavala; Challagundla, Malleswari; Connelly, Caitlin; Boch, Christina; Chen, Jun; Richter, Mario; Maneshi, Mohammad Mehdi; Swensen, Andrew M; Lebon, Lauren; Schiffmann, Raphael; Sanyal, Subhabrata; Sidrauski, Carmela; Kolumam, Ganesh; Baruch, Amos

Qualitative Study of the Patient Experience with Venglustat for Gaucher Disease Type 3 in a Phase 2 Open-Label, Multicenter, Multinational Study (LEAP)

一项针对戈谢病 3 型患者使用 Venglustat 的 2 期开放标签、多中心、多国研究 (LEAP) 的定性研究

Schiffmann, Raphael; Mengel, Eugen; Wallace, Mary; Rochmann, Camille; Turnbull, James; Krupnick, Robert; Gwaltney, Chad; Pulikottil-Jacob, Ruth; Batsu, Isabela; Zheng, Riliang; Hamed, Alaa

Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak

法布里病中维生素C尿液流失:维生素C肾脏渗漏的临床和基因组特征

Ebenuwa, Ifechukwude; Violet, Pierre-Christian; Padayatty, Sebastian J; Wang, Yaohui; Tu, Hongbin; Wilkins, Kenneth J; Moore, David F; Eck, Peter; Schiffmann, Raphael; Levine, Mark

Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature

由FOLR1基因新型纯合致病变异引起的髓鞘发育不全:口服亚叶酸治疗后临床和影像学表现完全恢复,并进行文献回顾

Potic, Ana; Perrier, Stefanie; Radovic, Tijana; Gavrilovic, Svetlana; Ostojic, Jelena; Tran, Luan T; Thiffault, Isabelle; Pastinen, Tomi; Schiffmann, Raphael; Bernard, Geneviève

Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease

在法布里病小鼠模型中,皮下注射和静脉注射moss-aGal疗效的比较

Dabrowska-Schlepp, Paulina; Busch, Andreas; Shen, Jin-Song; Cheong, Rachel Y; Madsen, Lone Bruhn; Mascher, Daniel; Schiffmann, Raphael; Schaaf, Andreas