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...
Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome? [0.03%]
杜氏肌营养不良男孩在使用Ataluren治疗较晚时有良好反应：之前的病情轻微是否会影响结果？
Ludovica Pasca,Alice Gardani,Matteo Paoletti et al.
Ludovica Pasca et al.
Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive disorder, caused by the absence of the dystrophin protein. A resolutive therapy for DMD is not yet available. The first approved drug for DMD patients with nonsen...
Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1 [0.03%]
肌营养不良1型患者性别对白内障发病、患病率和手术治疗的影响
Marianna Scutifero,Michele Lanza,Roberta Petillo et al.
Marianna Scutifero et al.
Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adults, affecting 1:8000 individuals. It is a multi-systemic disorder involving muscle, heart, endocrine and respiratory apparatus and eye. The eye symptoms can includ...
Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry [0.03%]
被情绪障碍掩盖的14岁青少年重症肌无力：神经学和精神病学之间的复杂平衡关系
Rossella D&#x;Alessandro,Anna Salvalaggio,Martina Vacchetti et al.
Rossella D&#x;Alessandro et al.
Juvenile Myasthenia Gravis (JMG) is a neuromuscular disease, often characterized at onset by fatigue and fluctuating weakness. We report a case of a girl affected by severe mood disorder, in which the diagnosis of JMG and its treatment were...
Can symptomatic nmDuchenne carriers benefit from treatment with ataluren? Results of 193-month follow-up [0.03%]
ataluren治疗无症状nmDuchenne基因携带者的效果如何？193个月的随访结果
Amir Dori,Michela Guglieri,Marianna Scutifero et al.
Amir Dori et al.
[This retracts the article DOI: 10.36185/2532-1900-058.]. ©2022 Gaetano Conte Academy - Mediterranean Society of Myology.
Impact of the COVID-19 pandemic on neuromuscular rehabilitation setting. Part 2: patients and families' views on the received health care during the pandemic [0.03%]
COVID-19大流行对神经肌肉康复机构的影响（二）：患者及家属视角下的疫情期医疗服务体验
Lorenza Magliano,Giulia Citarelli,Maria Grazia Esposito et al.
Lorenza Magliano et al.
This study explored views of users with muscular dystrophies and their caregivers on staff-user relationships and the treatments provided by a Rehabilitation Centre during the pandemic. Patients and relatives were asked to anonymously compl...