Gabriele Siciliano,Erika Schirinzi,Costanza Simoncini et al.
Gabriele Siciliano et al.
In muscle diseases different molecular mechanisms are responsible, by distinct cellular pathways, of muscle fibers contraction insufficiency and exercise intolerance. Depending on that, exercise therapy is a promising avenue to efficaciousl...
Aisha Munawar Sheikh,John Vissing
Aisha Munawar Sheikh
Muscle and lower motor neuron diseases share a common denominator of perturbed muscle function, most often related to wasting and weakness of muscles. This leads to a number of challenges, such as restricted mobility and respiratory difficu...
Nicoline B M Voet
Nicoline B M Voet
Although performing exercise studies in patients with neuromuscular disorders (NMD) is difficult, the number of randomized controlled trials is steadily increasing. There is growing evidence for a positive effect of aerobic exercise in seve...
Physiological aspects of muscular adaptations to training translated to neuromuscular diseases [0.03%]
生理学视角下训练诱导的肌肉适应在神经肌肉疾病中的应用
Angela Berardinelli,Giuseppe D&#x;Antona
Angela Berardinelli
The high level of complexity underlying the heterogeneous pathophysiology of neuromuscular diseases is a fundamental limiting factor in understanding the role of physical activity in their onset and/or clinical evolution. To overcome this d...
Acute sensorimotor polyneuropathy as an early sign of polyarteritis nodosa. A case report [0.03%]
多动脉炎nodosa的早期症状急性感觉运动性多神经病变一例报告
Valery M Kazakov,Dmitry I Rudenko,Tima R Stuchevskaya et al.
Valery M Kazakov et al.
We examined a patient aged 31 who had a sudden burning paraesthesia, pain and numbness in the lower legs together with an increased temperature of 39°C. Clinical examination showed asymmetrical sensory polyneuropathy more clearly seen in t...
The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease [0.03%]
首例与NEFL基因突变相关的葡萄牙Charcot-Marie-Tooth II型病家族
Rita Machado,Jorge Pinto-Basto,Luís Negrão
Rita Machado
CMT disease caused by NEFL gene mutations is rare. The mode of inheritance can be dominant or recessive and nerve conduction velocities can be normal, reduced (demyelinating) or presenting intermediate values. Two Portuguese adult related m...
Corrado Angelini,Roberta Marozzo,Valentina Pegoraro
Corrado Angelini
Becker muscular dystrophy (BMD) has onset usually in childhood, frequently by 11 years. BMD can present in several ways such as waddling gait, exercise related cramps with or without myoglobinuria. Rarely cardiomyopathy might be the present...
Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia [0.03%]
塞尔维亚肢带型肌营养不良症2A型患者的表型和基因分型谱系
Stojan Peric,Jelena Stevanovic,Katherine Johnson et al.
Stojan Peric et al.
Limb-girdle muscular dystrophy (LGMD) type 2A (calpainopathy) is an autosomal recessive disease caused by mutation in the CAPN3 gene. The aim of this study was to examine genetic and phenotypic features of Serbian patients with calpainopath...
Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study [0.03%]
基于LMNA基因(c.1434dupG)杂合新突变的家庭遗传性心肌病的临床研究及心脏磁共振影像学表现分析
Mashael Alfarih,Petros Syrris,Eloisa Arbustini et al.
Mashael Alfarih et al.
In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities...