Milan R Dimitrijevic,Byron A Kakulas
Milan R Dimitrijevic
A correlative approach to human spinal cord injuries (SCI) through the combination of neuropathology and neurophysiology provides a much better understanding of the condition than with either alone. Among the benefits so derived is the wide...
Feza Deymeer
Feza Deymeer
Myasthenia gravis (MG) is an autoimmune disease of the neuromuscular junction which affects all striated muscles, resulting in fluctuating weakness. Approaching MG as a disease with subgroups having different clinical, serological and genet...
25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy [0.03%]
SMN基因的25年：脊髓性肌萎缩的哥白尼革命
Francesco Danilo Tiziano,Eduardo F Tizzano
Francesco Danilo Tiziano
The new era of advanced therapies has influenced and changed the views and perspectives of a neuromuscular disease such as spinal muscular atrophy (SMA). Being an autosomal recessive motor neuron disorder, characterized by different degrees...
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome [0.03%]
表达导致马达布罗畸形A型的R527H核纤层A突变小鼠模型的相关皮肤和代谢缺陷及核异常现象
Maria Rosaria D&#x;Apice,Angela De Dominicis,Michela Murdocca et al.
Maria Rosaria D&#x;Apice et al.
LMNA gene encodes for lamin A/C, attractive proteins linked to nuclear structure and functions. When mutated, it causes different rare diseases called laminopathies. In particular, an Arginine change in Histidine in position 527 (p.Arg527Hi...
The correlation between cardiac and skeletal muscle pathology in animal models of idiopathic inflammatory myopathies [0.03%]
特发性炎性肌病动物模型中心脏和骨骼肌病理的相关性研究
Francesco Prisco,Serenella Papparella,Orlando Paciello
Francesco Prisco
Idiopathic inflammatory myopathies (IIMs) represent a heterogeneous group of disorders in which skeletal muscle is inappropriately targeted by the immune system. IIMs are characterized by inflammation of muscle and varying degrees of muscle...
Maria Rita De Giorgio,Stefania Di Noia,Cinzia Morciano et al.
Maria Rita De Giorgio et al.
In 2019-2020, the SARS-CoV-2 pandemic has shocked the world and most health care systems, and a "second wave" of the viral spread is ongoing in Europe and in Italy too. While, at the initial outbreak, the treatment of patients had focused o...
Piraye Oflazer
Piraye Oflazer
Giant cell myositis (GCMm) and giant cell myocarditis (GCMc) are two rare autoimmune conditions. Among these, GCMc is a life-threatening disease with a 1-year mortality rate of 70%. Lethal ventricular arrhythmias, rapid evolution to heart f...
Inflammatory myopathies: update on diagnosis, pathogenesis and therapies, and COVID-19-related implications [0.03%]
炎性肌病：诊断、发病机制和治疗的最新进展及与COVID-19相关的意义
Marinos C Dalakas
Marinos C Dalakas
The inflammatory myopathies constitute a heterogeneous group of acquired myopathies that have in common the presence of endomysial inflammation. Based on steadily evolved clinical, histological and immunopathological features and some autoa...
Frank L Mastaglia
Frank L Mastaglia
Drug-induced myopathies are a group of disorders whose importance lies in the fact that they are potentially treatable and usually reversible if the causative agent is identified and withdrawn. A wide variety of medications used in many dif...
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients [0.03%]
巴西RYR1基因突变型中央核肌病的显性和隐性遗传特点分析
Leonardo Galleni Leão,Lucas Santos Souza,Letícia Nogueira et al.
Leonardo Galleni Leão et al.
Central Core Disease (CCD) is an inherited neuromuscular disorder characterized by the presence of cores in muscle biopsy. CCD is caused by mutations in the RYR1 gene. This gene encodes the ryanodine receptor 1, which is an intracellular ca...