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

An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol

一项探索性开放标签多中心 I/II 期临床试验,旨在评估产后或产前产后联合应用同种异体扩增胎儿间充质干细胞治疗婴幼儿及胎儿重度成骨不全症的安全性和有效性:BOOSTB4 试验方案

Sagar, Rachel L; Åström, Eva; Chitty, Lyn S; Crowe, Belinda; David, Anna L; DeVile, Catherine; Forsmark, Annabelle; Franzen, Vera; Hermeren, Göran; Hill, Melissa; Johansson, Mats; Lindemans, Caroline; Lindgren, Peter; Nijhuis, Wouter; Oepkes, Dick; Rehberg, Mirko; Sahlin, Nils-Eric; Sakkers, Ralph; Semler, O; Sundin, Mikael; Walther-Jallow, Lilian; Verweij, E J T Joanne; Westgren, Magnus; Götherström, Cecilia

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

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

GEMIN5 致病性双等位基因变异患者的常染色体隐性小脑萎缩和痉挛性共济失调

Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, Margot A Cousin, Sarah S Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H Nemeth, Francisca Millan, Catherine DeVile, Kathe

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy

疑似慢性炎症性脱髓鞘性多发性神经根神经病患儿的临床表现、治疗及预后

Silwal, A; Pitt, M; Phadke, R; Mankad, K; Davison, J E; Rossor, A; DeVile, C; Reilly, M M; Manzur, A Y; Muntoni, F; Munot, P

Bilateral giant retinal tears in Osteogenesis Imperfecta

成骨不全症双侧巨大视网膜裂孔

Scollo, Paolo; Snead, Martin Paul; Richards, Allan James; Pollitt, Rebecca; DeVile, Catherine

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

并非所有 SCN1A 癫痫性脑病都是 Dravet 综合征:早期严重的 Thr226Met 表型

Sadleir, Lynette G; Mountier, Emily I; Gill, Deepak; Davis, Suzanne; Joshi, Charuta; DeVile, Catherine; Kurian, Manju A; Mandelstam, Simone; Wirrell, Elaine; Nickels, Katherine C; Murali, Hema R; Carvill, Gemma; Myers, Candace T; Mefford, Heather C; Scheffer, Ingrid E

Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta

NBAS复合杂合变异是导致非典型成骨不全的原因

Balasubramanian, M; Hurst, J; Brown, S; Bishop, N J; Arundel, P; DeVile, C; Pollitt, R C; Crooks, L; Longman, D; Caceres, J F; Shackley, F; Connolly, S; Payne, J H; Offiah, A C; Hughes, D; Parker, M J; Hide, W; Skerry, T M

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

儿童自身免疫性脑病:有或无已知中枢神经系统自身抗原抗体的患者的临床特征、实验室检查和结果

Yael Hacohen, Sukhvir Wright, Patrick Waters, Shakti Agrawal, Lucinda Carr, Helen Cross, Carlos De Sousa, Catherine Devile, Penny Fallon, Rajat Gupta, Tammy Hedderly, Elaine Hughes, Tim Kerr, Karine Lascelles, Jean-Pierre Lin, Sunny Philip, Keith Pohl, Prab Prabahkar, Martin Smith, Ruth Williams, An

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations

由复合杂合线粒体融合蛋白2突变引起的隐性轴索型夏科-马里-图斯病

Polke, J M; Laurá, M; Pareyson, D; Taroni, F; Milani, M; Bergamin, G; Gibbons, V S; Houlden, H; Chamley, S C; Blake, J; Devile, C; Sandford, R; Sweeney, M G; Davis, M B; Reilly, M M

Randomized, controlled trial of miglustat in Gaucher's disease type 3

米格鲁司他治疗戈谢病3型的随机对照试验

Schiffmann, Raphael; Fitzgibbon, Edmond J; Harris, Chris; DeVile, Catherine; Davies, Elin H; Abel, Larry; van Schaik, Ivo N; Benko, William; Timmons, Margaret; Ries, Markus; Vellodi, Ashok