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| 2. |
- Phadke, R., et al.
(författare)
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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature
- 2020
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Ingår i: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:5, s. 1002-1013
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Tidskriftsartikel (refereegranskat)abstract
- In this article, we report four new patients, from three kindreds, with pathogenic variants in RBCK1 and a multisystem disorder characterised by widespread polyglucosan storage. We describe the clinical presentation of progressive skeletal and cardiac myopathy, combined immunodeficiencies and auto-inflammation, illustrate in detail the histopathological findings in multiple tissue types, and report muscle MRI findings. © 2020 SSIEM
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| 3. |
- Albrecht, Inka, et al.
(författare)
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Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies
- 2015
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Ingår i: Journal of Clinical Investigation. - : AMER SOC CLINICAL INVESTIGATION INC. - 0021-9738 .- 1558-8238. ; 125:12, s. 4612-4624
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Tidskriftsartikel (refereegranskat)abstract
- Mutations of the gene encoding four-and-a-half LIM domain 1 (FHL1) are the causative factor of several X-linked hereditary myopathies that are collectively termed FHL1-related myopathies. These disorders are characterized by severe muscle dysfunction and damage. Here, we have shown that patients with idiopathic inflammatory myopathies (IIMs) develop autoimmunity to FHL1, which is a muscle-specific protein. Anti-FHL1 autoantibodies were detected in 25% of IIM patients, while patients with other autoimmune diseases or muscular dystrophies were largely anti-FHL1 negative. Anti-FHL1 reactivity was predictive for muscle atrophy, dysphagia, pronounced muscle fiber damage, and vasculitis. FHL1 showed an altered expression pattern, with focal accumulation in the muscle fibers of autoantibody-positive patients compared with a homogeneous expression in anti-FHL1-negative patients and healthy controls. We determined that FHL1 is a target of the cytotoxic protease granzyme B, indicating that the generation of FHL1 fragments may initiate FHL1 autoimmunity. Moreover, immunization of myositis-prone mice with FHL1 aggravated muscle weakness and increased mortality, suggesting a direct link between anti-FHL1 responses and muscle damage. Together, our findings provide evidence that FHL1 may be involved in the pathogenesis not only of genetic FHL1-related myopathies but also of autoimmune IIM. Importantly, these results indicate that anti-FHL1 autoantibodies in peripheral blood have promising potential as a biomarker to identify a subset of severe IIM.
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| 4. |
- Phadke, A. G., et al.
(författare)
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The wide world of wide-area measurement
- 2008
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Ingår i: IEEE Power and Energy Magazine. - 1540-7977. ; 6:5, s. 52-65
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Tidskriftsartikel (refereegranskat)abstract
- The interest in phasor measurement technology has reached a peak in recent years, as the need for the best estimate of the power system's state is recognized to be a crucial element in improving its performance and its resilience in the face of catastrophic failures. In most countries installing the phasor measurement units (PMUs) and getting to know the PMU system behavior through continuous observations of system events has been the first step. All installations are reaching for a hierarchical wide-area measurement system (WAMS ) so that the measurements obtained from various substations on the system can be collected at central locations from which various monitoring, protection, and control applications can be developed. In this article, experts from several countries summarize their WAMS -related activities in some detail. The contributions here provide an account of the most advanced stages in WAMS development in major world economies.
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- Lindahl, Sture, et al.
(författare)
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Problems and Solutions for Microprocessor Protection of Series Compensated Lines
- 1997
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Ingår i: [Host publication title missing]. - : IEE. - 0 85296 672 5
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Konferensbidrag (refereegranskat)abstract
- Protection of systems with series compensated lines is considered to be one of the most difficult tasks for relay manufacturers and utility engineers. Protection and control of surrounding circuit elements, particularly transmission line protection, needs to be adapted to the variations introduced by these devices. Fixed series capacitors and thyristor controlled devices introduce harmonics and nonlinearities which adversely impact the protection function. To take full advantage of the series capacitor installation in a utility network, it is necessary to explore the impact of series capacitors on protection and implement appropriate schemes. This paper describes practical issues related to microprocessor based protection of power networks with fixed and controllable series compensating devices. Phenomena that affect the protection of a network with series compensated lines are explored. The paper also presents solutions and new concepts in protection and fault location for series compensated power networks.
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