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

Efficacy of Suppression of Serum Transthyretin With Patisiran and Vutrisiran in Variant ATTR Amyloidosis: An Observational Crossover Study

帕替西兰和伏特西兰抑制血清转甲状腺素蛋白治疗变异型ATTR淀粉样变性的疗效:一项观察性交叉研究

Razvi, Yousuf; Rauf, Muhammad Umaid; Porcari, Aldostefano; Mansell, Josephine; Sheikh, Awais; Ioannou, Adam; Whelan, Carol J; Venneri, Lucia; Martinez-Naharro, Ana; Hutt, David F; Rowczenio, Dorota; Gilbertson, Janet A; Wechalekar, Ashutosh D; Lachmann, Helen J; Hawkins, Philip N; Fontana, Marianna; Gillmore, Julian D

Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

英国VEXAS相关及罕见UBA1变异的分布图谱:来自患者队列和普通人群的启示

Martinez Rodriguez, Ana; Chang, Leon; Rowczenio, Dorota; Smith, Alexandra; Omoyinmi, Ebun; Poulter, James A; McGregor, Andrew; Francis, Sebastian; Trikha, Roochi; Al-Hakim, Adam; Lok Kong, Kar; Kent, David G; Lachmann, Helen; Kulasekararaj, Austin; Cargo, Catherine; Savic, Sinisa

Peripheral Neuropathy in p.Val142Ile (Val122Ile) Variant Hereditary Transthyretin-Mediated Amyloidosis: United Kingdom Experience

p.Val142Ile (Val122Ile) 变异型遗传性转甲状腺素蛋白介导的淀粉样变性引起的周围神经病变:英国的经验

Zhang, Victor Jia Wei; O'Donnell, Luke F; Skorupinska, Mariola; Carganillo, Roy; Rossor, Alexander M; Fontana, Marianna; Rowczenio, Dorota; Gilbertson, Janet; Gillmore, Julian D; Reilly, Mary M

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK

英国将皮肤活检作为ATTRv淀粉样蛋白神经病诊断工具

O'Donnell, Luke F; Zhang, Victor; Carganillo, Roy; Rossor, Alexander M; Laura, Matilde; Skorupinska, Mariola; Gilbertson, Janet A; Rowczenio, Dorota; Razvi, Yousuf; Gillmore, Julian D; Reilly, Mary M

Somatic NLRP3 mosaicism in patients with "mutation-negative" CAPS: insights from a single centre UK cohort

英国单中心队列研究中“突变阴性”CAPS患者的体细胞NLRP3嵌合现象:

Melo Gomes, Sonia; Arostegui, Juan I; Mensa-Vilaro, Ana; Omoyinmi, Ebun; Hong, Ying; McCreary, Dara; Rowczenio, Dorota; Hawkins, Philip; Brogan, Paul

Characteristics and natural history of early-stage cardiac transthyretin amyloidosis

早期心脏转甲状腺素蛋白淀粉样变性的特征和自然病程

Law, Steven; Bezard, Melanie; Petrie, Aviva; Chacko, Liza; Cohen, Oliver C; Ravichandran, Sriram; Ogunbiyi, Olabisi; Kharoubi, Mounira; Ganeshananthan, Sashiananthan; Ganeshananthan, Sharmananthan; Gilbertson, Janet A; Rowczenio, Dorota; Wechalekar, Ashutosh; Martinez-Naharro, Ana; Lachmann, Helen J; Whelan, Carol J; Hutt, David F; Hawkins, Philip N; Damy, Thibaud; Fontana, Marianna; Gillmore, Julian D

Sex differences among patients with transthyretin amyloid cardiomyopathy - from diagnosis to prognosis

转甲状腺素蛋白淀粉样变性心肌病患者的性别差异——从诊断到预后

Patel, Rishi K; Ioannou, Adam; Razvi, Yousuf; Chacko, Liza; Venneri, Lucia; Bandera, Francesco; Knight, Daniel; Kotecha, Tushar; Martinez-Naharro, Ana; Masi, Ambra; Porcari, Aldostefano; Brown, James; Patel, Kiara; Manisty, Charlotte; Moon, James; Rowczenio, Dorota; Gilbertson, Janet A; Sinagra, Gianfranco; Lachmann, Helen; Wechalekar, Ashutosh; Petrie, Aviva; Whelan, Carol; Hawkins, Philip N; Gillmore, Julian D; Fontana, Marianna

Progression of echocardiographic parameters and prognosis in transthyretin cardiac amyloidosis

转甲状腺素蛋白心脏淀粉样变性患者的超声心动图参数进展及预后

Chacko, Liza; Karia, Nina; Venneri, Lucia; Bandera, Francesco; Passo, Beatrice Dal; Buonamici, Lodovico; Lazari, Jonathan; Ioannou, Adam; Porcari, Aldostefano; Patel, Rishi; Razvi, Yousuf; Brown, James; Knight, Daniel; Martinez-Naharro, Ana; Whelan, Carol; Quarta, Candida C; Manisty, Charlotte; Moon, James; Rowczenio, Dorota; Gilbertson, Janet A; Lachmann, Helen; Wechelakar, Ashutosh; Petrie, Aviva; Moody, William E; Steeds, Richard P; Potena, Luciano; Riefolo, Mattia; Leone, Ornella; Rapezzi, Claudio; Hawkins, Philip N; Gillmore, Julian D; Fontana, Marianna

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center

心包炎与自身炎症:国家转诊中心特发性复发性心包炎和单基因自身炎症性疾病患者的临床和遗传分析

Peet, Claire J; Rowczenio, Dorota; Omoyinmi, Ebun; Papadopoulou, Charalampia; Mapalo, Bella Ruth R; Wood, Michael R; Capon, Francesca; Lachmann, Helen J

Cardiac transplantation in transthyretin amyloid cardiomyopathy: Outcomes from three decades of tertiary center experience

转甲状腺素蛋白淀粉样变性心肌病的心脏移植:来自三级中心三十年的经验总结

Razvi, Yousuf; Porcari, Aldostefano; Di Nora, Concetta; Patel, Rishi K; Ioannou, Adam; Rauf, Muhammad U; Masi, Ambra; Law, Steven; Chacko, Liza; Rezk, Tamer; Ravichandran, Sriram; Gilbertson, Janet; Rowczenio, Dorota; Blakeney, Iona J; Kaza, Nandita; Hutt, David F; Lachmann, Helen; Wechalekar, Ashutosh; Moody, William; Lim, Sern; Chue, Colin; Whelan, Carol; Venneri, Lucia; Martinez-Naharro, Ana; Merlo, Marco; Sinagra, Gianfranco; Livi, Ugolino; Hawkins, Philip; Fontana, Marianna; Gillmore, Julian D