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

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

利用 iPSC 衍生的神经元模型揭示了锰在神经元内吞作用、钙流和线粒体生物能量学中的作用

Budinger Dimitri, Alhaque Sharmin, González-Méndez Ramón, Dadswell Chris, Barwick Katy, Ferrini Arianna, Roth Charlotte, McCann Conor J, Tuschl Karin, Al Jasmi Fatma, Zaki Maha S, Park Julien H, Dale Russell C, Mohammad Shekeeb, Christodoulou John, Moulding Dale, Duchen Michael R, Barral Serena, Kurian Manju A

Removal of Toxic Metabolites-Chelation: Manganese Disorders

清除有毒代谢物——螯合疗法:锰代谢紊乱

Vogt, Hendrik; Kostakis, George E; Purchase, Rupert; Spencer, John; Tuschl, Karin

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2

高锰血症伴肌张力障碍1型和2型的诊断和治疗专家共识

Fang, Sherry; Clayton, Peter T; Garg, Divyani; Yoganathan, Sangeetha; Zaki, Maha S; Helgadottir, Elin A; Palmadottir, Vala K; Landry, Maude; Gospe, Sidney M Jr; Mankad, Kshitij; Bonifati, Vincenzo; Sharma, Suvasini; Tuschl, Karin

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria

运动障碍的发生率随年龄增长而增加,这与精氨酸琥珀酸尿症中轻微且有限的神经影像学异常形成对比。

Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Alrashidi, Haya; Touramanidou, Loukia; Duff, Claire; Elkhateeb, Nour; Stepien, Karolina M; Sharma, Reena; Morris, Andrew; Hartley, Thomas; Crowther, Laura; Grunewald, Stephanie; Cleary, Maureen; Mundy, Helen; Chakrapani, Anupam; Batzios, Spyros; Davison, James; Footitt, Emma; Tuschl, Karin; Lachmann, Robin; Murphy, Elaine; Santra, Saikat; Uudelepp, Mari-Liis; Yeo, Mildrid; Finn, Patrick F; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G V; Frassetto, Andrea; Heales, Simon; Mills, Philippa B; Gissen, Paul; Clayden, Jonathan D; Clark, Christopher A; Eaton, Simon; Kalber, Tammy L; Baruteau, Julien

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

伴有智力低下综合征3型的高磷酸酶症:脑脊液异常及吡哆醇和亚叶酸的纠正

Messina, Martina; Manea, Emanuela; Cullup, Thomas; Tuschl, Karin; Batzios, Spyros

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish

斑马鱼中slc39a14基因的缺失会导致锰过敏和锰缺乏同时发生。

Tuschl, Karin; White, Richard J; Trivedi, Chintan; Valdivia, Leonardo E; Niklaus, Stephanie; Bianco, Isaac H; Dadswell, Chris; González-Méndez, Ramón; Sealy, Ian M; Neuhauss, Stephan C F; Houart, Corinne; Rihel, Jason; Wilson, Stephen W; Busch-Nentwich, Elisabeth M

Maintaining Translational Relevance in Animal Models of Manganese Neurotoxicity

在锰神经毒性动物模型中保持转化相关性

Taylor, Cherish A; Tuschl, Karin; Nicolai, Merle M; Bornhorst, Julia; Gubert, Priscila; Varão, Alexandre M; Aschner, Michael; Smith, Donald R; Mukhopadhyay, Somshuvra

Hypermanganesemia with Dystonia 1: A Novel Mutation and Response to Iron Supplementation

高锰血症伴肌张力障碍 1:一种新的突变及对铁剂补充的反应

Yapici, Zuhal; Tuschl, Karin; Eraksoy, Mefkure

Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography

利用正电子发射断层扫描技术对尼曼-匹克C型疾病小鼠模型中铜转运和重新分布的变化进行成像

Baguña Torres, Julia; Yu, Zilin; Bordoloi, Jayanta; Sunassee, Kavitha; Smith, David; Smith, Claire; Chen, Oscar; Purchase, Rupert; Tuschl, Karin; Spencer, John; Platt, Frances; Blower, Philip J

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.

两个家族中 SLC39A14 基因的新型创始人内含子变异导致锰中毒,并探讨了潜在的治疗策略

Rodan Lance H, Hauptman Marissa, D'Gama Alissa M, Qualls Anita E, Cao Siqi, Tuschl Karin, Al-Jasmi Fatma, Hertecant Jozef, Hayflick Susan J, Wessling-Resnick Marianne, Yang Edward T, Berry Gerard T, Gropman Andrea, Woolf Alan D, Agrawal Pankaj B