Heterozygous variants in SLC12A6 should be considered in all cases of suspected inherited neuropathy [0.03%]
怀疑遗传性神经病时应考虑SLC12A6基因杂合变异的可能性
Natalia Domink,Henry Houlden
Natalia Domink
Genetic susceptibility to heat identifies rare neurological diseases at particular risk from climate change impacts [0.03%]
遗传易感性揭示了罕见神经疾病特别容易受到气候变化的影响
Ravishankara Bellampalli,James D Mills,Angeliki Vakrinou et al.
Ravishankara Bellampalli et al.
Background: Climate change is one of the greatest contemporary challenges to human health, undermining human health through multiple mechanisms. Among relatively understudied mechanisms are those related to individual gen...
Siwei Chen
Siwei Chen
Arabella Bouzigues,Giulia Campana,Matthieu Joulot et al.
Arabella Bouzigues et al.
Background: Brain structural changes in frontotemporal dementia (FTD) can occur decades before symptom onset. Precise characterisation of grey matter changes is necessary for developing models of biomarker progression, wh...
Gene-specific impacts on brain architecture in genetic frontotemporal dementia [0.03%]
遗传性额颞叶痴呆对脑结构的基因特异性影响
Catherine M Pennington
Catherine M Pennington
Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort [0.03%]
成人肾上腺脑白质营养不良的表型特征及自然史：一项基于大样本队列的研究
Chiara Benzoni,Marco Moscatelli,Paola Lanteri et al.
Chiara Benzoni et al.
Background: Adult adrenoleukodystrophy is a rare X linked disorder with heterogeneous phenotypes, complicating prognosis and trial design. We characterised phenotype and natural history in a large single-centre nationwide...
Brain atrophy rates vary with age in relapsing-remitting multiple sclerosis [0.03%]
复发缓解型多发性硬化症中脑萎缩率随年龄变化而不同
Sezgi Kaçar,David R van Nederpelt,Julia R Jelgerhuis et al.
Sezgi Kaçar et al.
Background: Brain atrophy is increasingly used as an outcome measure in clinical trials in relapsing-remitting multiple sclerosis (RRMS), but little is known about how chronological age interacts with MS-specific effects....
Frequent co-occurrence of AChR-positive myasthenia gravis in facioscapulohumeral muscular dystrophy suggests a novel disease association [0.03%]
面肩肱型肌营养不良合并乙酰胆碱受体阳性重症肌无力的共病现象提示一种新的疾病关联
Grace McMacken,Mohammad Ashraghi,Lucas Keyes et al.
Grace McMacken et al.
Multicentre validation of a patient-reported outcome measure for functional movement disorders [0.03%]
功能运动障碍患者报告结果测量的多中心验证研究
Rosa Michaelis,Leonie Hagedorn,Anne Weissbach et al.
Rosa Michaelis et al.
Background: No disorder-specific patient-reported outcome measure (PROM) has yet been validated for functional movement disorders (FMDs), leaving a critical gap in clinical care and research. ...
Poetry in practice [0.03%]
论诗以实践为中心
Stephen Keddie,Michael P Lunn
Stephen Keddie