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...
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report [0.03%]
意大利肌肉萎缩症协会神经肌肉疾病紧急情况卡片首次共识会议工作组报告
Fabrizio Racca,Valeria A Sansone,Federica Ricci et al.
Fabrizio Racca et al.
Acute hospitalisation may be required to support patients with Neuromuscular disorders (NMDs) mainly experiencing respiratory complications, swallowing difficulties, heart failure, urgent surgical procedures. As NMDs may need specific treat...
The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy [0.03%]
肢带型肌营养不良的上肢功能评估(PUL模块)
Eleonora Diella,Antonella LoMauro,Morena Delle Fave et al.
Eleonora Diella et al.
Limb-girdle muscular dystrophy (LGMD) is a genetic muscle disorder causing weakness and wasting of the proximal limb musculature. When ambulation is lost, the attention must be shifted to the upper limb muscles' function. We studied the upp...
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation [0.03%]
Torin1恢复MFN2（线粒体内在膜蛋白2）突变的CMT2A细胞增殖速率
Paola Zanfardino,Alessandro Amati,Easter Anna Petracca et al.
Paola Zanfardino et al.
Objective: Mitofusin 2 (MFN2) is a mitochondrial outer membrane protein that serves primarily as a mitochondrial fusion protein but has additional functions including the tethering of mitochondrial-endoplasmic reticulum m...
Congenital myopathy associated with a novel mutation in MEGF10 gene, myofibrillar alteration and progressive course [0.03%]
与MEGF10基因新突变、肌原纤维改变和进行性病程相关的先天性肌病
Carolina Croci,Monica Traverso,Serena Baratto et al.
Carolina Croci et al.
Early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (OMIM #614399). Phenotypic spectrum of EMARDD is variable, ranging from severe infant...
Switching therapies: safety profile of Onasemnogene abeparvovec-xioi in a SMA1 patient previously treated with Risdiplam [0.03%]
转换疗法：在先前接受过Risdiplam治疗的1型脊髓性肌萎缩症患者中Onasemnogene abeparvovec-xioi的安全特性
Michele Tosi,Michela Catteruccia,Claudio Cherchi et al.
Michele Tosi et al.
Three disease-modifying drugs (Nusinersen, Risdiplam and Onasemnogene abeparvovec) have been approved for SMA type I. Onasemnogene abeparvovec (GRT) can be administered in naïve patients or patients who are already being treated with Nusin...