The atrial and ventricular myocardial proteome of end-stage lamin heart disease [0.03%]
终末期Ⅱ型肢带型肌营养不良患者心室和心房的心肌蛋白组学特征分析
Constantin-Cristian Topriceanu,Mashael Alfarih,Alun D Hughes et al.
Constantin-Cristian Topriceanu et al.
Lamins A/C (encoded by LMNA gene) can lead to dilated cardiomyopathy (DCM). This pilot study sought to explore the postgenomic phenotype of end-stage lamin heart disease. Consecutive patients with end-stage lamin heart disease (LMNA-group, ...
Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients [0.03%]
评估成人脊髓性肌萎缩症患者疲劳性的新临床方案的提出
Giulia Ricci,Francesca Torri,Alessandra Govoni et al.
Giulia Ricci et al.
Objective: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great v...
Afshan Zeeshan Wasti,Amal M H Mackawy,Amal Hussain et al.
Afshan Zeeshan Wasti et al.
This review aims to increase awareness and improve understanding, diagnosis, and management of fibromyalgia - a complex, distressing health challenge that significantly impacts people's lives due to its variable nature and lack of clear dia...
An unusual way to improve lung function in congenital myopathies: the power of singing [0.03%]
改善先天性肌病肺功能的非常方法：唱歌的力量
Maria Rosaria Valentino,Anna Annunziata,Lidia Atripaldi et al.
Maria Rosaria Valentino et al.
Congenital myopathies (CMs) are a clinically and genetically heterogeneous group of disorders characterized by early onset weakness, hypotonia and characteristic structural abnormalities in muscle fibres. Hypotonia and weakness can be prese...
Spontaneously resolving late-onset ocular myasthenia related to COVID-19. A case report [0.03%]
与COVID-19相关的迟发性眼肌型重症肌无力的自发缓解：病例报告
Cyprian Popescu
Cyprian Popescu
Myasthenia gravis (MG) is the most common disease of the neuromuscular junction disorders with bimodal distribution of age, which is often under-estimated in the elderly. Some clinical cases show an association between MG and COVID-19, sinc...
Cognitive function in DMD carriers: personal case series and literature review [0.03%]
杜氏肌营养不良基因携带者的认知功能：个人病例系列及文献回顾
Laura Carraro,Arianna Iosca,Maria Irene Dainesi et al.
Laura Carraro et al.
Improvement in clinical conditions allowed physicians to pay more attention to the cognitive function in DMD patients, leading to description of a cognitive impairment not only in affected males, but in female carriers as well. This study a...
Pregnancy experience in women with spinal muscular atrophy: a case series [0.03%]
脊髓肌肉萎缩女性患者的妊娠体验：病例系列分析
Roberta Piera Bencivenga,Dario Zoppi,Anna Russo et al.
Roberta Piera Bencivenga et al.
Many women with spinal muscular atrophy (SMA) types II, III, and IV reach fertile age, and some of them may consider pregnancy. However, limited data are available about the potential effects of pregnancy on the course of SMA and the outcom...
Sequential treatment with nusinersen, Zolgensma® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report [0.03%]
反义寡核苷酸和小分子治疗脊髓性肌萎缩症1型的序贯疗法：病例报告
Ilaria Bitetti,Maria Rosaria Manna,Roberto Stella et al.
Ilaria Bitetti et al.
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. While no specific therapies existed until a few years ago, several effective disease-modifying treatments have become av...
Parkinsonism may aggravate dysphagia in myotonic dystrophy type 1: two case reports [0.03%]
肌迟缓性营养不良1型合并帕金森综合征的病例报道
Salvatore Stano,Andrea Barp,Ruggero Bacchin et al.
Salvatore Stano et al.
Introduction: Weakness of trunk muscles, fatigue and reduced mobility are features of myotonic dystrophy type 1 (DM1) and may also characterize patients with extrapyramidal disorders.Dysphagia is common in DM1 and parkins...