Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy [0.03%]
肌原纤维肌病：作为Z线疾病的机制定义展望
Michio Inoue,Conrad C Weihl
Michio Inoue
Purpose of review: Myofibrillar myopathies (MFMs) are traditionally defined by histopathology, but recent genetic discoveries have broadened the spectrum of causative genes beyond Z-disk components. This review aims to ad...
Simeona Jacinto
Simeona Jacinto
Purpose of review: COP28 Health Day demonstrated the growing global attention to climate health. The purpose of this article is to review the impact of climate change on the emergence of neuro-infectious diseases. ...
Chronic idiopathic axonal neuropathy: antibodies, genetics, and beyond [0.03%]
慢性特发性轴突神经病：抗体、遗传和其它因素的影响
Mehmet Can Sari,Ahmet Hoke
Mehmet Can Sari
Purpose of review: Chronic idiopathic axonal neuropathy (CIAP) remains a diagnostic challenge, with many cases historically classified as idiopathic due to the absence of identifiable genetic, metabolic, or immune-mediate...
Mie Andersen,Hajime Hirase,Celia Kjaerby et al.
Mie Andersen et al.
Purpose of review: Gamma oscillations (30-80 Hz) play a crucial role in sensory processing and cognitive functions, with disruptions in these rhythms linked to neurological disorders such as schizophrenia and Alzheimer's ...
Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data [0.03%]
庞贝病成人患者中的酶替代治疗：从临床试验到真实世界数据
Nadine A M E van der Beek,Lianne H Potters,Benedikt Schoser
Nadine A M E van der Beek
Purpose of review: To review the clinical trial results and emerging real-world data of two new enzyme replacement therapies (ERTs) for late-onset Pompe disease and to compare these effects in the context of what has been...
Inclusion body myositis - what are new lines of pathogenesis and therapy? [0.03%]
包涵体肌炎-发病机制及治疗的新思路有哪些？
Karsten Krause,Tobias Ruck,Felix Kleefeld
Karsten Krause
Purpose of review: Although inclusion body myositis (IBM) is considered a rare disease, it is the most prevalent inflammatory myopathy in adults over 50 years of age. Its complex pathophysiological background includes inf...
Recent progress in the molecular understanding and treatments of facioscapulohumeral muscular dystrophy [0.03%]
近来面部肩胛肱肌营养不良症的分子病理及治疗研究进展
Roy Augustinus,Nicole Voet,Jessica C de Greef et al.
Roy Augustinus et al.
Purpose of review: Facioscapulohumeral muscular dystrophy (FSHD) is a progressive inherited myopathy, for which there is currently no cure available. This review focuses on the recent progress in the molecular understandi...
Ali M Alam,Catherine F Houlihan,Tehmina Bharucha
Ali M Alam
Purpose of review: On World Encephalitis Day 19th February 2025, Encephalitis International launched the World Health Organization technical brief on encephalitis, highlighting the growing public health challenge and need...
Recent advances in the genetics of Parkinson's disease in underrepresented populations [0.03%]
帕金森病未代表性人群中遗传学的最新进展
Gabriel Alves Marconi,Daniel Teixeira-Dos-Santos,Artur Francisco Schumacher Schuh
Gabriel Alves Marconi
Purpose of review: The aim of this study is to highlight recent key developments in Parkinson's disease genetics research in underrepresented populations, point out gaps related to ethnic and geographical diversity, and s...
Kathryn B Holroyd,Alan Winston,Sam Nightingale
Kathryn B Holroyd
Purpose of review: An update on brain health and cognitive function in persons living with HIV, with a focus on pathogenesis, classification and treatment. ...