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

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study

患有遗传性和获得性神经肌肉疾病的个体所面临的财务毒性及其决定因素:BIND 研究

Grant, Alyssa; Smith, Ian C; Lessard, Lola E R; Osman, Homira; Lochmuller, Hanns; McMillan, Hugh J; Pfeffer, Gerald; Korngut, Lawrence; Gagnon, Cynthia; Lintern, Stacey; Selby, Kathryn A; Thavorn, Kednapa; Warman-Chardon, Jodi

Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol

评估遗传性和炎症性神经肌肉疾病的社会经济负担(BIND 研究):一项研究方案

Smith, Ian C; Abusetah, Yasmin; Osman, Homira; Garg, Aditi; Grant, Alyssa; Lochmuller, Hanns; McMillan, Hugh; Pfeffer, Gerald; Korngut, Lawrence; Gagnon, Cynthia; Lintern, Stacey; Wojtal, Daria; Selby, Kathy; Thavorn, Kednapa; Warman-Chardon, Jodi

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives

计算成本:从患者和家属的角度看神经肌肉疾病的隐性经济现实

Osman, Homira; Adamji, Zainab; Lintern, Stacey; Smith, Ian C; Grant, Alyssa; Lessard, Lola E R; Lochmuller, Hanns; McMillan, Hugh; Selby, Kathryn; Pfeffer, Gerald; Korngut, Lawrence; Gagnon, Cynthia; Thavorn, Kednapa; Warman-Chardon, Jodi

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

EURO-NMD 注册库:基于 FAIR 原则的联合基础设施、创新技术和以患者为中心的罕见神经肌肉疾病注册库理念

Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel; Thompson, Rachel; Tassoni, Adrian; 't Hoen, Peter A C; Athanasiou, Dimitrios; Baker, Suzie-Ann; Sakellariou, Paraskevi; Paliouras, Georgios; D'Angelo, Carla; Horvath, Rita; Mancuso, Michelangelo; van der Beek, Nadine; Kornblum, Cornelia; Kirschner, Janbernd; Pareyson, Davide; Bassez, Guillaume; Blacas, Laura; Jacoupy, Maxime; Eng, Catherine; Lamy, François; Plançon, Jean-Philippe; Haberlova, Jana; Brusse, Esther; Hoeijmakers, Janneke G J; de Visser, Marianne; Claeys, Kristl G; Paradas, Carmen; Toscano, Antonio; Silani, Vincenzo; Gyenge, Melinda; Reviers, Evy; Hamroun, Dalil; Vroom, Elisabeth; Wilkinson, Mark D; Lochmuller, Hanns; Evangelista, Teresinha

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort

GNE肌病:印度人群中基因型-表型相关性及疾病进展

Baskar, Dipti; Reddy, Nishanth; Preethish-Kumar, Veeramani; Polavarapu, Kiran; Nishadham, Vikas; Vengalil, Seena; Nashi, Saraswati; Sanka, Sai Bhargava; Bardhan, Mainak; Huddar, Akshata; Unnikrishnan, Gopikrishnan; Harikrishna, Ganaraja Valakunja; Gunasekaran, Swetha; Thomas, Priya Treesa; Keerthipriya, Muddasu Suhasini; Girija, Manu Santhappan; Arunachal, Gautham; Anjanappa, Ram Murthy; Nishino, Ichizo; Pogoryelova, Oksana; Lochmuller, Hanns; Nalini, Atchayaram

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

先天性肌无力综合征临床表型特征分析,该综合征与编码乙酰胆碱受体ε亚基的CHRNE基因c.1327delG移码突变相关

Kastreva, Kristina; Chamova, Teodora; Blagoeva, Stanislava; Bichev, Stoyan; Mihaylova, Violeta; Meyer, Stefanie; Thompson, Rachel; Cherninkova, Sylvia; Guergueltcheva, Velina; Lochmuller, Hanns; Tournev, Ivailo

Associations between AD polygenic risk scores and global amyloid deposition in the European AMYPAD consortium

欧洲 AMYPAD 联盟中 AD 多基因风险评分与整体淀粉样蛋白沉积之间的关联

Alsaggaf, Rotana; Pfeiffer, Ruth M; Pearce, Emily E; Greene, Mark H; Lochmuller, Hanns; Gadalla, Shahinaz M; Rumbaugh, Malia C; Nudelman, Kelly N; Dage, Jeffrey L; Eloyan, Ani; Hammers, Dustin B; Carrillo, Maria C; Dickerson, Bradford C; Rabinovici, Gil D; Apostolova, Liana G; Foroud, Tatiana M; Luckett, Emma S; Abakkouy, Yasmina; Collij, Lyduine E; García, David Vállez; Alves, Isadora Lopes; Lorenzini, Luigi; Gispert, Juan Domingo; Visser, Pieter Jelle; den Braber, Anouk; Ritchie, Craig W; Vandenberghe, Rik; Wolz, Robin; Shekari, Mahnaz; Vilor‐Tejedor, Natalia; Farrar, Gill; Barkhof, Frederik; Cleynen, Isabelle

Direct and indirect costs of idiopathic inflammatory myopathies in adults: A systematic review

成人特发性炎症性肌病直接和间接成本:系统评价

Daniel, Eden; Smith, Ian C; Ly, Valentina; Bourque, Pierre R; Breiner, Ari; Lochmuller, Hanns; Maltez, Nancy; Thavorn, Kednapa; Warman-Chardon, Jodi

Sensory neuropathy in patients with Pompe disease: a case series in Iran

庞贝病患者的感觉神经病变:伊朗病例系列研究

Babaee, Marzieh; Rahmati, Mahdieh; Dehdahsi, Shima; Lochmuller, Hanns; Bahrami, Mohamad Hassan; Zeinali, Vahide; Rayegani, S Mansoor

Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment

遗传性运动神经病中神经肌肉接头受累:遗传异质性和口服沙丁胺醇治疗的效果

McMacken, Grace; Whittaker, Roger G; Wake, Ruth; Lochmuller, Hanns; Horvath, Rita