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 ...
Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion [0.03%]
C9orf72扩张患者的呼吸系统起病的肌萎缩侧索硬化症
Reece M Hass,Sandra Reiter-Campeau,Ruple S Laughlin et al.
Reece M Hass et al.
Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion....