Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study [0.03%]
疾病修正治疗时代3型脊髓性肌萎缩症患者开始丧失行走能力的国际研究
Giorgia Coratti,Francesca Bovis,Valentina Franchino et al.
Giorgia Coratti et al.
Background: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by survival motor neuron (SMN1) deletion. While loss of ambulation in SMA type III typically occurs at a median age of 13.4 years, outco...
Trajano Aguiar Pires Gonçalves,Camila Derminio Donadel,Rodrigo Siqueira Soares Frezatti et al.
Trajano Aguiar Pires Gonçalves et al.
Polyneuropathy, Organomegaly, Endocrinopathy, M-protein and Skin changes (POEMS) syndrome is a rare multisystemic disorder associated with plasma cell dyscrasia, most commonly presenting with peripheral neuropathy. Due to its complex and he...
Breaking the PROMISE: poor association between brain volume loss and clinical disability worsening over 2 years of follow-up in primary progressive multiple sclerosis [0.03%]
Primary Progressive多发性硬化症中脑体积损失与临床功能恶化之间相关性较差：PROMISE研究的2年随访结果
Marcus Koch,Jop Mostert,Eva M Strijbis et al.
Marcus Koch et al.
Background: Phase 2 clinical trials in primary progressive multiple sclerosis (PPMS) often use MRI brain volume measures as their primary endpoint. Here, we investigate the longitudinal association between change in MRI o...
Time to surgery and postoperative functional outcomes among patients with chronic subdural haematomas [0.03%]
慢性硬膜下血肿患者手术时机与术后功能预后的关系研究
Asfand Baig Mirza,James Knight,Pak Yin Lam et al.
Asfand Baig Mirza et al.
Background: Chronic subdural haematoma (cSDH) is a common neurological condition. Surgery remains the preferred treatment for symptomatic patients. Delays in surgery can occur due to logistical, clinical or medication-rel...
Amyloid-related imaging abnormalities (ARIA) in Alzheimer's immunotherapy: a framework and challenges for global surveillance strategies [0.03%]
阿尔茨海默病免疫治疗中的类淀粉相关影像异常（ARIA）：全球监测策略的框架与挑战
Na Hu,Xiyue Yang,Feng Feng et al.
Na Hu et al.
Discontinuation of ocrelizumab in multiple sclerosis: reoccurrence of disease activity [0.03%]
奥氏昔利单抗治疗多发性硬化症的停药与病情复发关系研究
Franz Felix Konen,Franziska Axhausen,Stephanie Wolff et al.
Franz Felix Konen et al.
Background: The optimal strategy after discontinuation of B-cell depleting therapies like ocrelizumab in people with multiple sclerosis (pwMS) remains uncertain, particularly regarding delayed disease reactivation, disabi...
Genetic subtypes associated with multiple sclerosis severity and response to treatment [0.03%]
与多发性硬化症严重程度和治疗反应相关的遗传亚型
Karim L Kreft,Nienke J Mekkes,Emeka Uzochukwu et al.
Karim L Kreft et al.
Background: Predicting response to treatment and long-term disability in multiple sclerosis (MS) remains challenging. In other complex diseases, combining genetic risk variants has enabled the detection of relevant clinic...
Sofia Carozza,Amar Dhand
Sofia Carozza
Perception versus practice: the reality of functional neurological disorder (FND) diagnosis at a large neurological centre [0.03%]
感知与实践的区别：大型神经中心的功能性神经系统障碍(FND)诊断现状
Edward Nicholas,James Varley,Richard Nicholas
Edward Nicholas
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants [0.03%]
SLC12A6突变引起的 dominantly 显性的Charcot-Marie-Tooth病的临床表型谱系分析
Christopher J Record,Tiffany Grider,Adriana P Rebelo et al.
Christopher J Record et al.
Background: Heterozygous variants in SLC12A6 have recently been shown to cause dominant Charcot-Marie-Tooth disease (CMT). We aim to characterise the phenotype of patients with previously reported and novel heterozygous v...