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1.	Phadke, R., et al. (author) 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 In: Journal of Inherited Metabolic Disease. - : Wiley. - 0141-8955 .- 1573-2665. ; 43:5, s. 1002-1013 Journal article (peer-reviewed)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
2.	Albrecht, I, et al. (author) Identification of Four-and-a-Half-LIM Domain 1 (FHL1) As a New Autoantibody Target in Idiopathic Inflammatory Myopathies 2015 In: ARTHRITIS & RHEUMATOLOGY. - 2326-5191. ; 67 Conference paper (other academic/artistic)
3.	Phadke, A. G., et al. (author) The wide world of wide-area measurement 2008 In: IEEE Power and Energy Magazine. - 1540-7977. ; 6:5, s. 52-65 Journal article (peer-reviewed)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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Type of publication: journal article (2); conference paper (1)

Type of content: peer-reviewed (2); other academic/artistic (1)

Author/Editor: Hallgren, A. (1); Roberts, M. (1); Johansson, K (1); Bottai, M (1); Landegren, N (1); Kampe, O (1); show more...; Padyukov, L (1); Vencovsky, J (1); Lundberg, IE (1); Wahren-Herlenius, M (1); Zubarev, R (1); King, A (1); Samuelsson, Olof (1); Bodi, I (1); Albrecht, I (1); Herrath, J (1); Chemin, K (1); Wick, C (1); Tjarnlund, A (1); Nagaraju, K (1); Andrade, F (1); Thompson, K (1); Coley, W (1); Phadke, A (1); Diaz-Gallo, LM (1); Nennesmo, I (1); Wikberg, A (1); Ytterberg, J (1); Danielsson, O (1); Krystufkova, O (1); Madani, Vahid (1); Novosel, Damir (1); Oldfors, Anders, 195 ... (1); Sofat, R (1); Oldfors Hedberg, Car ... (1); Murphy, E (1); Ashworth, M. (1); Novelli, M (1); Martínez, Enrique (1); Jovanovic, A (1); Jungbluth, H (1); Phadke, A.G. (1); Amer, H. (1); Volskis, Hector (1); de Moraes, Rui Menez ... (1); Bi, Tianshu (1); Nayak, R. N. (1); Sehgal, Y. K. (1); Sen, Subir (1); Sattinger, Walter (1); show less...

University: University of Gothenburg (1); Lund University (1); Karolinska Institutet (1)

Language: English (3)

Research subject (UKÄ/SCB): Engineering and Technology (1); Medical and Health Sciences (1)

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