Development and Validation of the Inclusion Body Myositis-Health Index: A Disease-Specific Patient-Reported Outcome Measure for Use in Clinical Trials and Drug-Labeling Claims [0.03%]
包涵体肌炎健康指数的开发与验证：一种用于临床试验和药品说明书声明的疾病特异性患者报告结局指标
Charlotte Irwin,Spencer Rosero,Jamison Seabury et al.
Charlotte Irwin et al.
Background and objectives: As novel therapeutic interventions are considered for individuals with inclusion body myositis (IBM), valid outcome measures are needed to quantify therapeutic gain and disease progression durin...
Novel Pathogenic Variants in the SBF2 Gene in Two Siblings With Charcot-Marie-Tooth Disease Type 4B2 [0.03%]
SBF2基因新致病突变与遗传性感觉运动神经病家系的研究
Aishani Vengala,Ruthwik Duvuru,Aravindhan Veerapandiyan
Aishani Vengala
Amyotrophic Lateral Sclerosis Caused by a Pathogenic Variant in SOD1 Gene: An Atypical Rapidly Progressive Phenotype [0.03%]
染色体SOD1基因致病突变所致肌萎缩侧索硬化症一例报告
Mariana Seco,Isabel Moreira,Jorge Oliveira et al.
Mariana Seco et al.
Real-World Evaluation of Efgartigimod in Generalized Myasthenia Gravis: A Single-Center Experience [0.03%]
Efgartigimod治疗全身型肌无力的现实世界评价：单一中心经验报告
Roopa Sharma,Ahmed Sabra,Navina Magesh Kumar et al.
Roopa Sharma et al.
To Draw Reliable Conclusions About the Demographics of COCID-19-Related and Unrelated GBS, Coherent Diagnostic Criteria Must Be Applied [0.03%]
为了对与Covid-19有关和无关的GBS（吉兰-巴雷综合征）的人口统计学特征得出可靠结论，必须应用连贯的诊断标准
Fulvio A Scorza,Josef Finsterer
Fulvio A Scorza
Differences in Neuropathic Pain as a Distinguishing Symptom in Dry Beriberi Mimicking Guillain-Barre Syndrome [0.03%]
神经病理性疼痛作为干燥性脚气病与吉兰-巴雷综合征鉴别的关键症状差异
Kyle N Kaneko,Erik Ortega,Shafeeq S Ladha
Kyle N Kaneko
Hereditary Myopathy With Early Respiratory Failure: A Case Report and Review of the Literature [0.03%]
遗传性肌病伴早期呼吸衰竭的病例报告和文献综述
Karlos Acurio,Niels Pacheco-Barrios,Irving G Calisaya-Madariaga et al.
Karlos Acurio et al.
Introduction: Hereditary myopathy with early respiratory failure (HMERF) is a rare myopathy resulting from a mutation on the TTN region of the titin gene. A case report and a thorough review of PubMed-reported cases were ...
A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5) [0.03%]
RRM2B基因截短型致病突变与Kurdish一家系常染色体显性遗传慢性进行性眼外肌麻痹综合征相关性研究
Demian Mayer,Emmanouela Kartsonaki,Einar Wilder-Smith et al.
Demian Mayer et al.
Objectives: To report a family with autosomal-dominant chronic progressive external ophthalmoplegia due to a novel truncating pathogenic variant in RRM2B and to show the challenges facing clinicians in diagnosing rare neu...
Pre-Plexal Extension of Parsonage-Turner Syndrome With Nerve Root Involvement on Needle Electromyography [0.03%]
神经瘤根受累的Parsonage-turner综合征前PLEXAL扩张期的针极肌电图表现
Cecilia V Mitchell,Nathan P Young,Kitty Y Wu et al.
Cecilia V Mitchell et al.
Parsonage-Turner syndrome (PTS) is an inflammatory, immune-mediated neurogenic condition characterized by acute-onset, severe unilateral shoulder/upper arm pain followed by patchy weakness and atrophy. Often described as an idiopathic brach...
An Unusual Case of Anti-FGFR3 Antibodies, Sensory Neuropathy, and Adie Pupil in a Patient With Hodgkin Lymphoma in Remission and Review of the Literature [0.03%]
复发性霍奇金淋巴瘤患者出现抗FGFR3抗体、感觉神经病和Adie瞳孔的一例罕见病例及文献复习
Sydney Peters,Wade Whitt,Alexis A Lizarraga
Sydney Peters
Autoantibodies against fibroblast growth factor receptor 3 (FGFR3) are associated with sensory neuropathy. In this report, we describe the case of a woman with a remote history of Hodgkin lymphoma in remission who presented with unilateral ...