Results 31 to 40 of about 273,495 (253)
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
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Frontiers in Cell and Developmental Biology, 2023 Myotonic dystrophy type 1 is a multisystemic disorder with predominant muscle and neurological involvement. Despite a well described pathomechanism, which is primarily a global missplicing due to sequestration of RNA-binding proteins, there are still ...
Vanessa Todorow +3 more
doaj +1 more source
Primary leiomyosarcoma of the pancreas: report of a case treated by local excision and review of the literature [PDF]
, 2015 First described by Ross in 1951, primary pancreatic leiomyosarcoma is a rare mesenchymal tumour of the pancreas, with nonspecific clinical and radiological features and a poor prognosis, if ...
Blandamura, Stella +3 more
core +1 more source
Applied Sciences, 2021 Low back pain is a prevalent musculoskeletal disorder with high disability. Although exercise therapy is an important part of the multidisciplinary treatment of non-specific chronic low back pain (NSCLBP), the impact of exercise therapy on muscle ...
Anouk Agten +5 more
doaj +1 more source
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]
, 2016 Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo +37 more
core +1 more source
Liver transplantation for type IV glycogen storage disease [PDF]
, 1991 TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis +17 more
core +1 more source
Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]
, 1989 The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter +2 more
core +1 more source
A Case of Statin-Associated Autoimmune Myopathy. [PDF]
, 2017 A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the ...
Dokukin, Andrei N +6 more
core +3 more sources
Journal of Medical Sciences and Health, 2023 Background: Neuromuscular disorders are rare, inherited progressive disorders leading to major disabilities over the years. As a group, there prevalence is not so uncommon and requires attention in view of their rising cases. Muscle biopsy forms
Ashmeet Kaur +4 more
doaj +1 more source
Clinico pathological study of adult dermatomyositis: Importance of muscle histology in the diagnosis
Annals of Indian Academy of Neurology, 2015 Aims: To study the histological features on muscle biopsy and correlate them with clinical features, other laboratory data in adult patients to make a diagnosis of dermatomyositis (DM), applying the European Neuromuscular center (ENMC) criteria ...
Sudhir Babu Karri +4 more
doaj +1 more source