Efficacy and safety of middle meningeal artery embolization for nonacute subdural hematoma [0.03%]
.middle meningeal动脉栓塞治疗非急性硬膜下血肿的疗效及安全性
Wenhong Nie,Wei Jiang,Hao Huang et al.
Wenhong Nie et al.
Background: This study aims to synthesise data from randomized controlled trials (RCTs) to evaluate the efficacy and safety of middle meningeal artery embolization (MMAE) in the treatment of nonacute subdural hematoma (SD...
Investigating the safety and efficacy of deoxycytidine/deoxythymidine in mitochondrial DNA depletion disorders: phase 2 open-label trial [0.03%]
关于线粒体DNA耗竭障碍的脱氧胞苷/脱氧胸苷治疗的安全性和有效性的二期开放标记试验：一项二期、开放式试验
Saoussen Berrahmoune,Christelle Dassi,Heather Pekeles et al.
Saoussen Berrahmoune et al.
Objective: Mitochondrial DNA depletion disorders are rare genetic disorders involving mitochondrial dysfunction. These diseases are genetically and clinically heterogeneous but share the common feature of progressively de...
Clinical Trial
Journal of neurology. 2025 Apr 2;272(4):307. DOI:10.1007/s00415-025-13060-w 2025
Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study [0.03%]
多参数定量磁共振成像评估 facio‐scapulo‐humeral 型肌营养不良的自然史：前瞻性队列研究
M Paoletti,M Monforte,L Barzaghi et al.
M Paoletti et al.
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive skeletal muscle wasting. Longitudinal muscle magnetic resonance imaging (MRI) studies demonstrated that the risk...
Stéphane Mathis,Diane Beauvais,Fanny Duval et al.
Stéphane Mathis et al.
This retrospective study identified 125 audio-visual works from cinema and television, including films, TV series, and documentaries, depicting neuromuscular disorders since 1910. Motor neuron disorders, including amyotrophic lateral sclero...
Exploring epigenetic modifications as potential biomarkers and therapeutic targets in amyotrophic lateral sclerosis [0.03%]
探索表观遗传修饰在肌萎缩侧索硬化中的潜在生物标志物和治疗靶点
XiaoTong Hou,JingSi Jiang,Min Deng
XiaoTong Hou
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common motor neuron disease. Whole-genome sequencing has identified many novel ALS-associated genes, but genetics alone cannot fully explain the onset of ALS a...
Neurological disability and brain grey matter atrophy in primary progressive multiple sclerosis are determined by microstructural lesional changes, but not by lesion load [0.03%]
原发进行性多发性硬化症的神经学残疾和脑灰质萎缩是由微观结构性病灶变化决定，而不是由病灶负荷决定的
Theodoros Ladopoulos,Zainab Abbas,Britta Krieger et al.
Theodoros Ladopoulos et al.
Background: Conventional MRI measures, such as the number and volume of MS lesions, are histologically non-specific and cannot sufficiently explain clinical disability or brain atrophy in MS. Nevertheless, demyelinating p...
Daniele Mandia,Juliette Dufour,Silvia Fenu et al.
Daniele Mandia et al.
Andrew J Larner
Andrew J Larner
The disease-specific structural pattern in Parkinson's disease and its cortical characteristics associated with gene function: a 7-Tesla MRI study [0.03%]
帕金森病的特异性结构模式及其与基因功能相关的皮质特征：一项7特斯拉MRI研究
Xiaoyu Wang,Yongqin Xiong,Caohui Duan et al.
Xiaoyu Wang et al.
Brain structure characteristics form the basis on regulating neuroplastic processes by genes, and structural alterations may contribute to the progression of Parkinson's disease (PD) and their divergent clinical manifestations. However, the...
PRNP E146G mutation inherited prion disease: distinctive clinical, pathological and fluid biomarker features [0.03%]
携带PRNP E146G突变的遗传性朊病毒病：临床特征、病理及体液生物标志物的特殊性
Thomas Coysh,Zane Jaunmuktane,Laszlo L P Hosszu et al.
Thomas Coysh et al.
Inherited prion diseases (IPDs) are phenotypically diverse neurodegenerative conditions caused by mutations in the prion protein gene (PRNP). We describe IPD due to a novel PRNP E146G mutation in a 50-year-old man presenting with slowly pro...