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...
Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review [0.03%]
CMV感染和自身免疫性肌炎患者骨骼肌的组织学和超微结构改变：病例分析及文献简述
Michela Ripolone,Laura Napoli,Vittorio Mantero et al.
Michela Ripolone et al.
We report the case of a young woman with CMV infection, high level of creatine kinase and myopathy. Electromyography showed a myopathic pattern. Muscle biopsy showed a marked increase of NADH enzymatic activity in the central area of almost...
Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era [0.03%]
神经肌肉疾病远程医疗在新冠疫情期间的应用
Melania Giannotta,Cristina Petrelli,Antonella Pini
Melania Giannotta
Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided....
A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease [0.03%]
与McArdle病相关的PYGM基因新型复合杂合突变体
Salvatore Iacono,Antonino Lupica,Vincenzo Di Stefano et al.
Salvatore Iacono et al.
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene (PYGM) resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia, and intolerance to physical ex...
Cardiac disorders worsen the final outcome in myasthenic crisis undergoing non-invasive mechanical ventilation: a retrospective 20-year study from a single center [0.03%]
心脏疾患加重重症肌无力危象患者的预后：一项单中心20年的回顾性研究
Erika Iori,Alessandra Ariatti,Marco Mazzoli et al.
Erika Iori et al.
The study was performed to evaluate the impact of cardiological disorders on the outcome of myasthenic crisis (MC) requiring ventilation. The study includes 90 cases admitted to the Neurology Unit of Modena, Italy (January 2000 - September ...
Temporary positive expiratory pressure (TPEP) as an alternative approach in the treatment of persistent atelectasis in a patient with Steinert disease: a case report [0.03%]
替代CPAP治疗Steinert病患者的持续性肺不张：病例报告
Antonietta Coppola,Anna Annunziata,Elena Sciarrillo et al.
Antonietta Coppola et al.
We describe the clinical case of a patient affected by Steinert disease with persistent dyspnea complicated by a complete obstructive atelectasis of left lower lung lobe. The atelectasis has been successfully treated using the TPEP machine,...