نتایج جستجو برای: gne

تعداد نتایج: 282  

2015
Zohar Argov Stella Mitrani Rosenbaum

GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and are described in this review. The review also ...

Journal: :Piretc 2023

In this paper information measurement system (IMS) modulation integrated with a graphical node editor (GNE) is carried out for engineering applications to build software capable of both editing and simulating different scenarios. A characteristic measuring classification classifying discreet signal that includes preprocessor, stage classifier. Preprocessor detects impulse begins finishes, deter...

Journal: :Physiological genomics 2008
May Christine V Malicdan Satoru Noguchi Yukiko K Hayashi Ichizo Nishino

Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy (hIBM), is characterized clinically by weakness and atrophy that initially involves the distal muscles and pathologically by the presence of rimmed vacuoles (RVs) or intracellular protein deposits in myofibers. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinas...

2014
Ryan Takahashi Shuguang Ma Alan Deese Qin Yue Heasook Kim-Kang Yijun Yi Michael Siu Kevin W. Hunt Nicholas C. Kallan Cornelis E.C.A. Hop Xingrong Liu Cyrus Khojasteh

We investigated an uncommon biotransformation of pyrimidine during the metabolism of GNE-892 ((R)-2-amino-1,39,39-trimethyl79-(pyrimidin-5-yl)-39,49-dihydro-29H-spiro[imidazole-4,19-naphthalen]5(1H)-one), a b-secretase 1 inhibitor. Three novel metabolites, formed by conversion of pyrimidine to pyrazole, were observed in the C-radiolabeled mass balance study in rats. Their structures were charac...

Journal: :Applied sciences 2023

This paper proposes a distributed algorithm for games with shared coupling constraints based on the variational approach and proximal-point algorithm. The demonstrates effectiveness of in computing generalized Nash equilibrium (GNE) problems using local data communication neighbors any networked game. achieves goal reflecting decisions Nash–Cournot game under partial-decision information while ...

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