학술논문


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'학술논문' 에서 검색결과 61건 | 목록 1~20
Academic Journal
In Trends in Biochemical Sciences 2004 29(1):25-31
Academic Journal
Mol Autism
Molecular Autism, Vol 16, Iss 1, Pp 1-10 (2025)
Eleftheriou, C, Giachetti, S, Hickson, R, Kamnioti-Dumont, L, Templaar, R, Aaltonen, A, Tsoukala, E, Kim, N, Fryer-Petridis, L, Henley, C, Erdem, C, Wilson, E, Maio, B, Ye, J, Pierce, J C, Mazur, K, Landa-Navarro, L, Petrović, N G, Bendova, S, Woods, H, Rizzi, M, Salazar-Sanchez, V, Anstey, N, Asiminas, A, Basu, S, Booker, S A, Harris, A, Heyes, S, Jackson, A, Crocker-Buque, A, McMahon, A C, Till, S M, Wijetunge, L S, Wyllie, D J A, Abbott, C M, O’Leary, T & Kind, P C 2025, ' Better statistical reporting does not lead to statistical rigour : lessons from two decades of pseudoreplication in mouse-model studies of neurological disorders ', Molecular Autism, vol. 16, 30 . https://doi.org/10.1186/s13229-025-00663-3
Academic Journal
In Trends in Molecular Medicine 2002 8(2):88-92
Academic Journal
In Trends in Genetics 2001 17(10):S2-S6
Academic Journal
Eur J Hum Genet
European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J, Verloes, A, Abbott, C M & Ruaud, L 2024, ' Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01560-8
Academic Journal
Walton ME; Department of Experimental Psychology, University of Oxford, Oxford, UK.; Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, The University of Edinburgh, Edinburgh, UK.; Ajram LA; British Neuroscience Association, Bristol, UK.; Ramnani N; Department of Psychology, Royal Holloway, University of London, Egham, UK.; Spires-Jones TL; Centre for Discovery Brain Sciences and UK Dementia Research Institute, The University of Edinburgh, Edinburgh, UK.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101702599 Publication Model: eCollection Cited Medium: Internet ISSN: 2398-2128 (Electronic) Linking ISSN: 23982128 NLM ISO Abbreviation: Brain Neurosci Adv Subsets: PubMed not MEDLINE
Academic Journal
Marshall, G F, Fasol, M, Davies, F C J, Le Seelleur, M, Alvarez, A F, Bennett-Ness, C, Gonzalez-Sulser, A & Abbott, C M 2024, ' Face valid phenotypes in a mouse model of the most common mutation in EEF1A2 related neurodevelopmental disorder, E122K ', Disease Models and Mechanisms, vol. 17, no. 6 . https://doi.org/10.1242/dmm.050501
Academic Journal
Treekitkarnmongkol W; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Solis LM; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Sankaran D; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Gagea M; Department of Veterinary Medicine and Surgery, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Singh PK; Center for Translational Cancer Research, Texas A&M Health Science Center, Institute of Biosciences and Technology, Houston, TX 77030, USA.; Mistry R; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Nguyen T; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Kai K; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Liu J; State Key Laboratory of Bioreactor Engineering, Shanghai Key Laboratory of New Drug Design, School of Pharmacy, East China University of Science and Technology, Shanghai 200237, PR China.; Sasai K; Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.; Jitsumori Y; Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.; Liu J; State Key Laboratory of Bioreactor Engineering, Shanghai Key Laboratory of New Drug Design, School of Pharmacy, East China University of Science and Technology, Shanghai 200237, PR China.; Nagao N; Department of Life and Environmental Sciences, Prefectural University of Hiroshima, Shobara, 727-0023, Japan.; Stossi F; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Mancini MA; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.; Wistuba II; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Thompson AM; Department of Surgery, Baylor College of Medicine, Houston, TX 77030, USA.; Lee JM; Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Cadiñanos J; Fundación Centro Médico de Asturias, 33193 Oviedo, Spain.; Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA), 33193 Oviedo, Spain.; Wong KK; Department of Gynecologic Oncology and Reproductive Medicine, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Abbott CM; Centre for Genomic & Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.; Sahin AA; Department of Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Liu S; Department of Biostatistics, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Katayama H; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.; Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.; Sen S; Department of Translational Molecular Pathology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE
Academic Journal
Gospodinova KO; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Olsen D; Department of Biomedicine, Aarhus University, 8000, Aarhus, Denmark.; Kaas M; Department of Biomedicine, Aarhus University, 8000, Aarhus, Denmark.; Anderson SM; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Phillips J; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Walker RM; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; University of Edinburgh, Chancellor's Building, 49, Edinburgh, EH16 4SB, UK.; Bermingham ML; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Payne AL; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Giannopoulos P; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Pandya D; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Spires-Jones TL; Centre for Discovery Brain Sciences, UK Dementia Research Institute, University of Edinburgh, Edinburgh, EH8 9XD, UK.; Abbott CM; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Porteous DJ; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.; Glerup S; Department of Biomedicine, Aarhus University, 8000, Aarhus, Denmark.; Evans KL; Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK. Kathy.Evans@ed.ac.uk.
Publisher: Springer Country of Publication: Netherlands NLM ID: 8200709 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-6830 (Electronic) Linking ISSN: 02724340 NLM ISO Abbreviation: Cell Mol Neurobiol Subsets: MEDLINE
Academic Journal
Bengani H; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Grozeva D; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.; Moyon L; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.; Bhatia S; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Louros SR; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Hope J; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Jackson A; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Prendergast JG; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.; Owen LJ; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Naville M; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.; Rainger J; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Grimes G; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Halachev M; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Murphy LC; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Spasic-Boskovic O; East Midlands and East of England NHS Genomic Laboratory Hub, Molecular Genetics, Adden brooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge, Cambridge, United Kingdom.; van Heyningen V; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Kind P; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Abbott CM; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Osterweil E; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Roest Crollius H; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.; FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Davies, F C J, Marshall, G F, Pegram, E, Gadd, D & Abbott, C M 2023, ' Endogenous epitope tagging of eEF1A2 in mice reveals early embryonic expression of eEF1A2 and subcellular compartmentalisation of neuronal eEF1A1 and eEF1A2 ', Molecular and Cellular Neuroscience, vol. 126, pp. 103879 . https://doi.org/10.1016/j.mcn.2023.103879
Academic Journal
Newbery, H J, Stancheva, I, Zimmerman, L B & Abbott, C M 2011, ' Evolutionary importance of translation elongation factor eEF1A variant switching : eEF1A1 down-regulation in muscle is conserved in Xenopus but is controlled at a post-transcriptional level ', Biochemical and Biophysical Research Communications, vol. 411, no. 1, pp. 19-24 . https://doi.org/10.1016/j.bbrc.2011.06.062
Academic Journal
Abbott, C M, Newbery, H J, Squires, C E, Brownstein, D, Griffiths, L A & Soares, D C 2009, ' eEF1A2 and neuronal degeneration ', Biochemical Society Transactions, vol. 37, no. Pt 6, pp. 1293-7 . https://doi.org/10.1042/BST0371293
Academic Journal
Sci Rep
Davies, F, Hope, J, McLachlan, F, Nunez, F, Doig, J, Bengani, H, Smith, C & Abbott, C M 2017, ' Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice ', Scientific Reports . https://doi.org/10.1038/srep46019
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[AR] Abbott, Catherine M
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