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...
Experience with telemedicine in neuromuscular clinic during COVID-19 pandemic [0.03%]
新冠肺炎疫情期间神经肌肉疾病专科的远程会诊经验
Mehdi Ghasemi,Kristy Poulliot,Kate M Daniello et al.
Mehdi Ghasemi et al.
Objectives: The aim of the present study was to evaluate the feasibility and acceptability of telehealth for the care of neuromuscular patients during the COVID-19 pandemic. ...
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature [0.03%]
染色体21号区基因缺失综合征并发进行性肌营养不良及甘油激酶缺乏症的智力障碍病例报告及文献复习
Antonella Pizza,Esther Picillo,Maria Elena Onore et al.
Antonella Pizza et al.
The contiguous gene deletion syndromes (CGDS) are rare genomic disorders resulting from the deletion of large segments of DNA, manifested as the concurrence of apparently unrelated clinical features. A typical example of CGDS is Xp21 contig...
Eliana Iannibelli,Sara Gibertini,Marta Cheli et al.
Eliana Iannibelli et al.
The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and ...
Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate [0.03%]
多学科视角下的神经肌肉疾病患儿向成人医疗保健的过渡：对科学证据和当前讨论的叙述性回顾
Giuseppe Accogli,Camilla Ferrante,Isabella Fanizza et al.
Giuseppe Accogli et al.
Objective: Standards of care and new genetic and molecular therapies have contributed to increasing life expectancy of patients with neuromuscular diseases (NMDs). This review presents the clinical evidence for an adequat...
Is paravertebral muscles edema a consequence of neurogenic changes in MuSK-positive myasthenia gravis? [0.03%]
MuSK阳性重症肌无力的神经源性变化会引发椎旁肌肉水肿吗？
Sergey N Bardakov,Vadim A Tsargush,Pierre G Carlier et al.
Sergey N Bardakov et al.
Anti-MuSK myasthenia gravis (Anti-MuSK MG) is a chronic autoimmune disease caused by complement-independent dysfunction of the agrin-MuSK-Lrp4 complex, accompanied by the development of the pathological muscle fatigue and sometimes muscle a...