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

Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1

芬戈莫德治疗1型神经元蜡样脂褐质沉积症的初步研究

Messina, Martina; Whiteley, Rebecca; Gan, Chin; Heywood, Wendy E; Heslegrave, Amanda J; Keating, Megan; Taylor, Sophie; Footitt, Emma; Mills, Philippa; Hemingway, Cheryl; Gissen, Paul; Vecchiato, Katy

Assessment of urinary 6-oxo-pipecolic acid as a biomarker for ALDH7A1 deficiency

评估尿液中6-氧代哌啶酸作为ALDH7A1缺乏症生物标志物的价值

Khalil, Youssef; Footitt, Emma; Vootukuri, Reddy; Wempe, Michael F; Coughlin, Curtis R 2nd; Batzios, Spyros; Wilson, Matthew P; Kožich, Viktor; Clayton, Peter T; Mills, Philippa B

Neutrophil extracellular traps promote immunopathogenesis of virus-induced COPD exacerbations

中性粒细胞胞外陷阱促进病毒诱发的 COPD 恶化的免疫发病机制

Orestis Katsoulis, Marie Toussaint, Millie M Jackson, Patrick Mallia, Joseph Footitt, Kyle T Mincham, Garance F M Meyer, Tata Kebadze, Amy Gilmour, Merete Long, Andrew D Aswani, Robert J Snelgrove, Sebastian L Johnston, James D Chalmers, Aran Singanayagam

Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy

接受酶替代疗法治疗的CLN2-巴顿病患者运动障碍的演变

Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A

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

Gaming Disorder: The role of a gamers flow profile

游戏障碍:游戏玩家心流模式的作用

Footitt, Trent; Christofi, Natasha; Poulus, Dylan R; Colder Carras, Michelle; Stavropoulos, Vasileios

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity

与SUMF1双等位基因变异和白细胞硫酸酯酶活性降低相关的非综合征性视网膜营养不良

Lin, Siying; Robson, Anthony G; Thompson, Dorothy A; Stepien, Karolina M; Lachmann, Robin; Footitt, Emma; Czyz, Ola; Chandrasekhar, Shwetha; Schiff, Elena; Iosifidis, Christos; Black, Graeme C; Michaelides, Michel; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

英国一家儿科中心对20例尿素循环障碍患者使用苯丁酸甘油酯的临床经验

Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

多学科专家的参与最大程度地利用全基因组测序诊断罕见疾病

William L Macken #, Micol Falabella #, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E Woodward, Yogen Patel, Robyn Labrum; Genomics England Research Consortium; Rahul Phadke, Mary M Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

赖氨酸减少疗法与吡哆醇依赖性癫痫患者认知结果之间的关联

Coughlin, Curtis R; Tseng, Laura A; Bok, Levinus A; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M; Lunsing, Roelineke J; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L K; Abdenur, Jose E; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C H; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N; Lamb, Molly M; Wijburg, Frits A; Gospe, Sidney M Jr; van Karnebeek, Clara