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...
Peripheral circulation disturbances in two consecutive children with spinal muscular atrophy and literature review [0.03%]
脊髓性肌萎缩症两例患儿的周围血液循环障碍及文献复习
Gloria Cristofano,Martina Fucci,Maria Carmela Oliva et al.
Gloria Cristofano et al.
Spinal muscular atrophy is a progressive and severe hereditary (autosomal recessive) neuromuscular disease characterized by lower motor neuron degeneration in the spinal cord and brainstem causing a clinical picture of progressive muscle at...
The role of BAG3 in dilated cardiomyopathy and its association with Charcot-Marie-Tooth disease type 2 [0.03%]
BAG3在扩张型心肌病中的作用及其与遗传性神经病变（Charcot-Marie-Tooth疾病2型）的关联研究
Nitya Yerabandi,Valentina L Kouznetsova,Santosh Kesari et al.
Nitya Yerabandi et al.
Bcl2-associated athanogene 3 (BAG3) is a multifunctional cochaperone responsible for protein quality control within cells. BAG3 interacts with chaperones HSPB8 and Hsp70 to transport misfolded proteins to the Microtubule Organizing Center (...
Antonio Trabacca,Camilla Ferrante,Marta De Rinaldis
Antonio Trabacca
Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study [0.03%]
长期研究脊髓性肌萎缩症成人患者在奈西利肽治疗下的肌肉定量磁共振影像变化
Annamaria Gallone,Federica Mazzi,Silvia Bonanno et al.
Annamaria Gallone et al.
The recent approval of disease-modifying therapies for spinal muscular atrophy (SMA) raised the need of alternative outcome measures to evaluate treatment efficacy. In this study, we investigated the potential of muscle quantitative MRI (qM...
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report [0.03%]
COL6A3基因新发突变导致的常染色体显性遗传型乌利齐先天性肌营养不良症一例报告
Esther Picillo,Annalaura Torella,Luigia Passamano et al.
Esther Picillo et al.
Mutations in the genes encoding collagen VI cause Bethlem myopathy (MIM 158810), Ullrich congenital muscular dystrophy (MIM 254090), and myosclerosis myopathy (MIM #255600). BM is a dominantly inherited disorder, characterised by proximal m...