Relevant bibliographies by topics / GNE

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'GNE'

Author: Grafiati
Published: 4 June 2021
Last updated: 26 July 2025

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Journal articles on the topic "GNE"

1

Gidaro, T., D. Duchene, G. Ollivier, et al. "Longitudinal study for GNE gene (ClinBio-GNE)." Neuromuscular Disorders 25 (October 2015): S281. http://dx.doi.org/10.1016/j.nmd.2015.06.342.

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Dutchak, Anastasiia, Oleksandr Kornutii, and Maya Bondarenko. "GNE- MYOPATHY WITH A HOMOZYGOUS MUTATION OF A 48-YEAR-OLD UKRAINIAN WOMAN." Annali d'Italia 61 (November 27, 2024): 63–65. https://doi.org/10.5281/zenodo.14230854.

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Nonaka myopathy is a rare autosomal recessive genetic disorder characterized by progressive degeneration of distal muscles, leading to muscle weakness. The disease is caused by mutations in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. This study was conducted to clarify the clinical diagnosis and assess the risk of neurological disease occurrence in the patient's offspring. A missense mutation c.1985C<T (p.Ala662Val) in the GNE gene was identified in exon 11 in a homozygous state through panel sequencing.
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Mitrani-Rosenbaum, Stella, Lena Yakovlev, Michal Becker Cohen, Zohar Argov, Yakov Fellig, and Avi Harazi. "Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy." Journal of Neuromuscular Diseases 9, no. 1 (2022): 179–92. http://dx.doi.org/10.3233/jnd-210755.

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Background: GNE myopathy is a unique adult onset rare neuromuscular disease caused by recessive mutations in the GNE gene. The pathophysiological mechanism of this disorder is not well understood and to date, there is no available therapy for this debilitating disease. We have previously established proof of concept that AAV based gene therapy can effectively deliver the wild type human GNE into cultured muscle cells from human patients and in mice, using a CMV promoter driven human wild type GNE plasmid delivered through an adeno associated virus (AAV8) based platform. Objective: In the prese
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Jang, Jessica, Marjan Huizing, Andrea Bowling, et al. "eP017: GNE gene variants associated with thrombocytopenia with or without GNE myopathy." Genetics in Medicine 24, no. 3 (2022): S12. http://dx.doi.org/10.1016/j.gim.2022.01.055.

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Ishtiaq, Hina, Sonia Siddiqui, Rukhsana Nawaz, Muhammad Ashraf Hussain, Fauzia Imtiaz, and Zeba Haque. "The Identification of Sialuria with Different Degrees of Intellectual Disabilities in Children and Adolescents." Annals of Psychophysiology 8, no. 2 (2021): 86–95. http://dx.doi.org/10.29052/2412-3188.v8.i2.2021.86-95.

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Background: Single nucleotide polymorphism/mutation in the R263L region of the allosteric site of the GNE gene produces a phenotype with an overproduction of intracellular levels of sialic acid and causes sialuria. In sialuria, a defective GNE gene, synthesized with lost feedback inhibition mechanism, produces many developmental delays and varying degrees of intellectual disabilities in children and adolescents. Several mutations in the epimerase and kinase domains exist that cause difficulty in getting a precise and exact effect of the GNE gene on the disease severity and sialic acid levels.
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Canals, Rocío, Natalia Jiménez, Silvia Vilches, Miguel Regué, Susana Merino, and Juan M. Tomás. "The UDP N-Acetylgalactosamine 4-Epimerase Gene Is Essential for Mesophilic Aeromonas hydrophila Serotype O34 Virulence." Infection and Immunity 74, no. 1 (2006): 537–48. http://dx.doi.org/10.1128/iai.74.1.537-548.2006.

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ABSTRACT Mesophilic Aeromonas hydrophila strains of serotype O34 typically express smooth lipopolysaccharide (LPS) on their surface. A single mutation in the gene that codes for UDP N-acetylgalactosamine 4-epimerase (gne) confers the O− phenotype (LPS without O-antigen molecules) on a strain in serotypes O18 and O34, but not in serotypes O1 and O2. The gne gene is present in all the mesophilic Aeromonas strains tested. No changes were observed for the LPS core in a gne mutant from A. hydrophila strain AH-3 (serotype O34). O34 antigen LPS contains N-acetylgalactosamine, while no such sugar resi
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Urtizberea, J. Andoni, and Anthony Béhin. "Myopathie GNE." médecine/sciences 31 (November 2015): 20–27. http://dx.doi.org/10.1051/medsci/201531s306.

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Marion, Sylvie, Anthony Béhin, and Shahram Attarian. "Myopathie GNE :." médecine/sciences 33 (November 2017): 55–56. http://dx.doi.org/10.1051/medsci/201733s111.

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Moshkovitz, I., M. Becker-Cohen, I. Eisenberg, and S. Mitrani-Rosenbaum. "MicroRNA regulation of the GNE gene." Neuromuscular Disorders 26 (October 2016): S170—S171. http://dx.doi.org/10.1016/j.nmd.2016.06.307.

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Bengoechea, José Antonio, Elise Pinta, Tiina Salminen, et al. "Functional Characterization of Gne (UDP-N-Acetylglucosamine- 4-Epimerase), Wzz (Chain Length Determinant), and Wzy (O-Antigen Polymerase) of Yersinia enterocolitica Serotype O:8." Journal of Bacteriology 184, no. 15 (2002): 4277–87. http://dx.doi.org/10.1128/jb.184.15.4277-4287.2002.

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ABSTRACT The lipopolysaccharide (LPS) O-antigen of Yersinia enterocolitica serotype O:8 is formed by branched pentasaccharide repeat units that contain N-acetylgalactosamine (GalNAc), l-fucose (Fuc), d-galactose (Gal), d-mannose (Man), and 6-deoxy-d-gulose (6d-Gul). Its biosynthesis requires at least enzymes for the synthesis of each nucleoside diphosphate-activated sugar precursor; five glycosyltransferases, one for each sugar residue; a flippase (Wzx); and an O-antigen polymerase (Wzy). As this LPS shows a characteristic preferred O-antigen chain length, the presence of a chain length determ
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Dissertations / Theses on the topic "GNE"

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Singh, Manpreet. "Use of e-resources in the Guru Nanak Dev Engineering College, Ludhiana : A Study." Arihant Prakashan p. Ltd., New Delhi, 2012. http://hdl.handle.net/10150/252872.

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E-Resources in Guru Nanak Dev Engg. College.<br>Library is a repository of resources. Adequate electronics resources facilities empower and enrich the higher education system in meeting the best academic needs. Users are use e-resources in the library or any where. The silicon age that led the computer revolution has significant changed in the libraries. The present paper examine the existing of various e-resources in GNE College, Ludhiana and its uses by students.
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Bosch, Morató Mònica 1986. "The Role of intracellular amyloid β-peptide in the pathophysiology of GNE myopathy and Alzheimer's disease". Doctoral thesis, Universitat Pompeu Fabra, 2015. http://hdl.handle.net/10803/650351.

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The Amyloid β-peptide (Aβ) is accumulated in several diseases including GNE myopathy and Alzheimer’s disease (AD). GNE myopathy is a skeletal muscle disorder caused by biallelic mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which codifies for a key enzyme in sialic acid biosynthesis. The mutated GNE gene encodes a hypofunctional enzyme causing a decrease in cellular sialic acid. We have found that hyposialylation favors Aβ endocytosis in skeletal muscle cells, which is dependent on clathrin and heparan sulfate proteoglycan. Furthermore, we have obs
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Calas-Blanchard, Carole. "Graphites Naturels Expansés (GNE) : caractérisation de la texture poreuse : utilisation comme nouveau matériau support pour capteurs électrochimiques." Perpignan, 2001. http://www.theses.fr/2001PERP0450.

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Ce travail repose sur la carctérisation de la texture poreuse d'un graphite naturel expansé (GNE) et sur son utilisation comme transducteur dans les capteurs électrochimiques. Généralement, les milieux poreux sont étudiés par des méthodes d'adsorption de gaz, des mesures au pycnomètre à helium et au porosimètre à mercure. Les propriétés de conduction électronique du GNE nous ont permis d'envisager la caractérisation deu matériau par des méthodes électrochimiques. Les résultats en terme de surface spécifique et de volume poreux sont très satisfaisants mais contrairement aux méthodes classiques,
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Kessel, Pia [Verfasser]. "Funktionelle Bedeutung der UDP-N-Acetylglukosamin 2-Epimerase/N-Acetylmannosamin-Kinase (GNE) für die Anoikis von Tumorzellen / Pia Kessel." Berlin : Freie Universität Berlin, 2010. http://d-nb.info/1024502600/34.

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Vaccaro, Valentina. "Le Geometrie Non Euclidee (GNE) 2.0 Le ICT da semplice supporto a strumento creativo in un’esperienza di apprendimento in Matematica." Master's thesis, Alma Mater Studiorum - Università di Bologna, 2017. http://amslaurea.unibo.it/13552/.

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Questa tesi presenta il lavoro svolto nel progetto “Le Geometrie Non Euclidee (GNE) 2.0” e si propone di indagare se e come le nuove tecnologie possano diventare uno strumento operativo per l’insegnamento-apprendimento in Matematica. Il progetto - suddiviso in otto moduli e destinato agli studenti dell’anno conclusivo della scuola secondaria di secondo grado - è stato strutturato in incontri in presenza e attività online gestite a distanza; ogni modulo è stato incentrato sulla presentazione interattiva multimediale dell’argomento da parte dei docenti; si è sviluppato, poi, nella ricerca indiv
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Hering, Jessica [Verfasser], Rüdiger [Akademischer Betreuer] Horstkorte, Jürgen [Akademischer Betreuer] Dittmer, and Stephan [Akademischer Betreuer] Hinderlich. "Differenzierung von Wildtyp und GNE-defizienten murinen embryonalen Stammzellen in „Embryoid bodies“ / Jessica Hering. Betreuer: Rüdiger Horstkorte ; Jürgen Dittmer ; Stephan Hinderlich." Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2013. http://d-nb.info/1041255616/34.

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Reinke, Stefan O. [Verfasser]. "Biochemische Charakterisierung von GNE-Isoformen : Identifizierung, Expression und biochemische Charakterisierung von Isoformen der UDP-GlcNAc-2-Epimerase, ManNAc-Kinase / Stefan O. Reinke." Saarbrücken : Südwestdeutscher Verlag für Hochschulschriften, 2012. http://d-nb.info/1023832666/34.

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Großmann, Mona [Verfasser], S. [Akademischer Betreuer] Zierz, G. [Akademischer Betreuer] Stoltenburg-Didinger, and R. [Akademischer Betreuer] Horstkorte. "Die C57BL/6 GNE+/-Maus als Modell für die hereditäre Einschlusskörpermyopathie Typ 2 (h-IBM2) / Mona Großmann. Betreuer: S. Zierz ; G. Stoltenburg-Didinger ; R. Horstkorte." Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2016. http://d-nb.info/1089085214/34.

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Boulnois, Gabriel. "Intégration d'un procédé de stockage thermochimique à une centrale solaire thermodynamique : de l'expérimentation à l'échelle matériau aux performances énergétiques à l'échelle système." Thesis, Perpignan, 2016. http://www.theses.fr/2016PERP0013/document.

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Les procédés de stockage de chaleur haute température par voie thermochimique solide/gaz présentent un grand intérêt pour des applications à des centrales solaires thermodynamiques. Le couple réactif CaO/Ca(OH)2 est adapté à cette application pour des déstockages entre 350 et 550°C sous des pressions de vapeur entre 0,2 et 2bar. Les paramètres de transferts de chaleur et de masse de lits de Ca(OH)2+GNE ont été évalués au travers de corrélations et d'expérimentations. Des expérimentations ont permis d'atteindre des puissances en réaction de déstockage supérieures à 200kW.m-3 pour des durées com
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Chaise, Albin. "Etude expérimentale et numérique de réservoirs d’hydrure de magnésium." Grenoble 1, 2008. http://www.theses.fr/2008GRE10257.

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L'objectif de la thèse était d'étudier la faisabilité du stockage solide de l'hydrogène sous forme d'hydrure de magnésium (MgH2). Dans un premier temps la poudre de MgH2 activé a été caractérisée d'un point de vue cinétique, thermodynamique, et thermique. Les cinétiques d'absorption / désorption de l'hydrogène s'avèrent très sensibles à une exposition des poudres à l'air. La réaction d'hydruration, très exothermique, nécessite d'évacuer très rapidement la chaleur pour charger un réservoir dans un temps raisonnable. Afin d'augmenter la conductivité thermique, un procédé de mise en forme du maté
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Books on the topic "GNE"

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Cazaux, Yves. Henri IV: Les horizons du re gne. A. Michel, 1986.

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L'Estoile, Pierre de. Registre-journal du re gne de Henri III. Droz, 1992.

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Leibacher-Ouvrard, Lise. Libertinage et utopies sous le re gne de Louis XIV. Droz, 1989.

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PAPADOPOULOU, Gianni K. Keimena enos aganu, puranoma e gne fre tou 1955-1959. Onisilos Pub, 1987.

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s, Louis de (pseud coll ). Boanerge. Actualite de la fin des temps: Biento t le re gne mille naire : historique apologe tique du mille narisme. L. de Boanerge s, 1993.

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Hava, David. ha-Gen ha-Elohi: Divine gene. Geṿanim, 2015.

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Trénou, Laurinda Yenda. Gẽ̳-personennamen. Institut für Phonetik, Universität des Saarlandes, 1985.

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Kühn, Ralf. Gene knockout protocols. 2nd ed. Humana Press, 2009.

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Loskoutoff, Yvan. La sainte et la fe e: De votion a l'enfant Je sus et mode des contes merveilleux a la fin du re gne de Louis XIV. Librairie Droz, 1987.

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Tchak, Sami. Nyo̳nu d'afo̳ gbe =: Femme infidèle. Éditions Graines de Pensées, 2011.

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Book chapters on the topic "GNE"

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Argov, Zohar, and Stella Mitrani-Rosenbaum. "GNE Myopathy." In Current Clinical Neurology. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-44009-0_9.

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Kong, Chao, Baoxiang Chen, Shaoying Li, Yifan Chen, Jiahui Chen, and Liping Zhang. "GNE: Generic Heterogeneous Information Network Embedding." In Web Information Systems and Applications. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-60029-7_11.

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Reutter, Werner, Stephan Hinderlich, and Wolfgang Kemmner. "UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE)." In Handbook of Glycosyltransferases and Related Genes. Springer Japan, 2014. http://dx.doi.org/10.1007/978-4-431-54240-7_114.

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Mori-Yoshimura, Madoka. "Clinical Aspects of GNE Myopathy and Translational Medicine." In Translational Research in Muscular Dystrophy. Springer Japan, 2016. http://dx.doi.org/10.1007/978-4-431-55678-7_10.

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Nishimura, Hiroaki, and Satoru Noguchi. "Molecular Pathogenesis and Therapeutic Strategy in GNE Myopathy." In Translational Research in Muscular Dystrophy. Springer Japan, 2016. http://dx.doi.org/10.1007/978-4-431-55678-7_4.

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Straub, Volker, Liesbeth De Waele, and Rita Barresi. "Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE." In Muscle Disease. John Wiley & Sons, Ltd, 2013. http://dx.doi.org/10.1002/9781118635469.ch24.

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Martinez, Noelia Nunez, Michelle Lipke, Jacqueline Robinson, and Bridget Wilcken. "Sialuria: Ninth Patient Described Has a Novel Mutation in GNE." In JIMD Reports. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/8904_2018_117.

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Sharma, Shweta, Roop Singh Bora, Kulvinder Singh Saini, and Ranjana Arya. "Optimizing Chaperone Removal Strategy from Overexpressed Recombinant : GNE, a Case Study." In Methods in Molecular Biology. Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-1859-2_20.

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Zong, Yan, and Shaofu Yang. "A Distributed v-GNE Seeking Algorithm for Multi-agent Games over Unbalanced Graphs." In Proceedings of 2021 5th Chinese Conference on Swarm Intelligence and Cooperative Control. Springer Nature Singapore, 2022. http://dx.doi.org/10.1007/978-981-19-3998-3_114.

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Hinderlich, Stephan, Wenke Weidemann, Tal Yardeni, Rüdiger Horstkorte, and Marjan Huizing. "UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis." In Topics in Current Chemistry. Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/128_2013_464.

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Conference papers on the topic "GNE"

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Violante, Cristiana, Dorinda Marques-Da-Silva, Paula Alexandra Videira, and Ricardo Lagoa. "An Injectable Thermoreversible Hydrogel Loaded with ManNAc for GNE Myopathy." In 2025 6th International Conference on Bio-engineering for Smart Technologies (BioSMART). IEEE, 2025. https://doi.org/10.1109/biosmart66413.2025.11046070.

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Tao, Qianle, Hongjie Pei, Yongfang Liu, and Yu Zhao. "Distributed GNE Seeking Over Directed Graphs: A Scalar-State Variable Approach." In 2024 IEEE International Conference on Unmanned Systems (ICUS). IEEE, 2024. https://doi.org/10.1109/icus61736.2024.10840122.

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Li, Weijian, and Lacra Pavel. "Passivity-based Gradient-Play Dynamics for Distributed GNE Seeking via Parallel Feedforward Compensation." In 2024 IEEE 63rd Conference on Decision and Control (CDC). IEEE, 2024. https://doi.org/10.1109/cdc56724.2024.10885931.

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Alex, Dudley, Kennelly Laura, Connolly Sean, and Mc Guigan Christopher. "GNE myopathy: genotypic and phenotypic variability." In Association of British Neurologists: Annual Meeting Abstracts 2023. BMJ Publishing Group Ltd, 2023. http://dx.doi.org/10.1136/jnnp-2023-abn.227.

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Du, Lun, Zhicong Lu, Yun Wang, Guojie Song, Yiming Wang, and Wei Chen. "Galaxy Network Embedding: A Hierarchical Community Structure Preserving Approach." In Twenty-Seventh International Joint Conference on Artificial Intelligence {IJCAI-18}. International Joint Conferences on Artificial Intelligence Organization, 2018. http://dx.doi.org/10.24963/ijcai.2018/287.

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Network embedding is a method of learning a low-dimensional vector representation of network vertices under the condition of preserving different types of network properties. Previous studies mainly focus on preserving structural information of vertices at a particular scale, like neighbor information or community information, but cannot preserve the hierarchical community structure, which would enable the network to be easily analyzed at various scales. Inspired by the hierarchical structure of galaxies, we propose the Galaxy Network Embedding (GNE) model, which formulates an optimization pro
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Romano, Andrew R., and Lacra Pavel. "Exact convergence to GNE using penalty methods." In 2022 European Control Conference (ECC). IEEE, 2022. http://dx.doi.org/10.23919/ecc55457.2022.9838103.

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Donadey, Alain, Francois Langevin, Gilbert Farges, and Patrick Plassais. "Clinical engineering education at Compiègne University." In 1992 14th Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 1992. http://dx.doi.org/10.1109/iembs.1992.5761396.

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Lima, Adrio Luís Gonçalves de, Natalia Sarzi Sartori, Rafael Mendonça da Silva Chakr, et al. "GNE MYOPATHY AS A DIFFERENTIAL DIAGNOSIS OF POLYMYOSITIS." In XXXIX Congresso Brasileiro de Reumatologia. Sociedade Brasileiro de Reumatologia, 2022. http://dx.doi.org/10.47660/cbr.2022.1835.

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Barbosa, Mariana, Beatriz L. Pereira, and Paula A. Videira. "Targeting Immune-Mediated Responses to Tackle GNE Myopathy." In Biosystems in Toxicology and Pharmacology – Current Challenges. MDPI, 2022. http://dx.doi.org/10.3390/bitap-12788.

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Boeckelmann, D., H. Georgiev, S. Wasmer, et al. "Biallelic GNE variants in patients with congenital thrombocytopenia." In GTH Congress 2023 – 67th Annual Meeting of the Society of Thrombosis and Haemostasis Research – The patient as a benchmark. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1760608.

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Reports on the topic "GNE"

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Marshall, Dana R., Olufemi J. Adegoke, and Wei Zheng. Gene-Gene and Gene-Environment Interactions in the Etiology of Breast Cancer. Defense Technical Information Center, 2007. http://dx.doi.org/10.21236/ada472397.

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Wolstenhome, D. R. The plant mitochondrial mat-r gene/nad1 gene complex. Office of Scientific and Technical Information (OSTI), 1996. http://dx.doi.org/10.2172/763987.

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Jesus Ariel Gonzalez Gloria, Jesus Ariel Gonzalez Gloria. Copper gene-switch for controllable gene expression in plants. Experiment, 2025. https://doi.org/10.18258/75537.

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Itoh, Kohei. Growth and characterization of isotopically enriched 70Ge and 74GGe single crystals. Office of Scientific and Technical Information (OSTI), 1992. http://dx.doi.org/10.2172/10117025.

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Eugene, Robert. Going! Going! Gone? Patricia Seybold Group, 2003. http://dx.doi.org/10.1571/cs5-22-03cc.

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Ding, Yi. Adenovirus-Mediated p202 Gene Transfer in Breast Cancer Gene Therapy. Defense Technical Information Center, 2005. http://dx.doi.org/10.21236/ada442740.

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Wolstenholme, D. R. The plant mitochondrial mat-r gene/nad1 gene complex. Progress report. Office of Scientific and Technical Information (OSTI), 1994. http://dx.doi.org/10.2172/10159855.

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Sun, Jielin, Jianfeng Xu, and Siqun L. Zheng. Systematic Search for Gene-Gene Interaction Effect on Prostate Cancer Risk. Defense Technical Information Center, 2012. http://dx.doi.org/10.21236/ada564269.

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Sun, Jielin, Jianfeng Xu, and Siqun L. Zheng. Systematic Search for Gene-Gene Interaction Effect on Prostate Cancer Risk. Defense Technical Information Center, 2013. http://dx.doi.org/10.21236/ada593732.

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Hanks, S., T. Li, D. Farinacci, and P. Traina. Generic Routing Encapsulation (GRE). RFC Editor, 1994. http://dx.doi.org/10.17487/rfc1701.

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