Results 21 to 30 of about 314,455 (204)
Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]
Neurology India, 2008 Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V. +1 more
openaire +2 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
doaj
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Orphanet Journal of Rare Diseases, 2020 Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka +8 more
doaj +1 more source
Scientific Reports, 2022 To describe the peripheral angiographic features of vasculopathy in idiopathic inflammatory myopathies (IIM) and systemic sclerosis (SSc) in comparison to polyarteritis nodosa (PAN).
Jina Yeo +3 more
doaj +1 more source
A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]
, 2010 Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group +15 more
core +1 more source
Clinical, histological and molecular study of patients with distal and myofibrillar myopathies [PDF]
, 2022 As miopatias distais (MD) são um grupo heterogêneo de doenças musculares com predomínio de fraqueza nas extremidades distais, enquanto as miopatias miofibrilares (MMF) são doenças musculares esqueléticas e cardíacas com agregados proteicos do disco Z ...
Silva, André Macedo Serafim da
core +1 more source
Tratamiento endovascular de la aorta torácica mediante endoprótesis con escotadura distal [PDF]
, 2011 [eng] “ENDOVASCULAR TREATMENT OF THORACIC AORTA WITH SCALLOPED THORACIC ENDOGRAFTS” Endovascular treatment of thoracic aortic disease (ETTAD) is often the only option for patients unfit for open surgery.
Maciel Da Rocha, Marcio Fernando
core +6 more sources
Arquivos de Neuro-Psiquiatria, 1996 Estudamos 16 casos entre 1400 biópsias musculares que apresentavam vacúolos marginados, cujo aspecto histológico sugeria corpos de inclusão citoplasmáticos. Procuramos correlacionar os dados clínicos, laboratoriais e histopatológicos, a fim de determinar
Rosana Herminia Scola +2 more
doaj +1 more source
Neuromuscular disease: 2021 update
Free Neuropathology, 2021 This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii ...
Marta Margeta
doaj +1 more source