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1دورية أكاديمية
المؤلفون: Dong-Won Seol, Byoung-Jin Park, Deog-Bon Koo, Ji-Su Kim, Yong-Hyun Jeon, Jae-Eon Lee, Joon-Suk Park, Hoon Jang, Gabbine Wee
المصدر: Current Issues in Molecular Biology, Vol 46, Iss 5, Pp 3752-3762 (2024)
مصطلحات موضوعية: Fukuyama congenital muscular dystrophy, fukutin gene, knockout rat model, CRISPR/Cas9, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
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3
المؤلفون: Robert, Lesurf, Abdelrahman, Said, Oyediran, Akinrinade, Jeroen, Breckpot, Kathleen, Delfosse, Ting, Liu, Roderick, Yao, Gabrielle, Persad, Fintan, McKenna, Ramil R, Noche, Winona, Oliveros, Kaia, Mattioli, Shreya, Shah, Anastasia, Miron, Qian, Yang, Guoliang, Meng, Michelle Chan Seng, Yue, Wilson W L, Sung, Bhooma, Thiruvahindrapuram, Jane, Lougheed, Erwin, Oechslin, Tapas, Mondal, Lynn, Bergin, John, Smythe, Shashank, Jayappa, Vinay J, Rao, Jayaprakash, Shenthar, Perundurai S, Dhandapany, Christopher, Semsarian, Robert G, Weintraub, Richard D, Bagnall, Jodie, Ingles, Marta, Melé, Philipp G, Maass, James, Ellis, Stephen W, Scherer, M, Zarowiecki
المساهمون: Barcelona Supercomputing Center
المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)مصطلحات موضوعية: Genetics & Heredity, RISK, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Science & Technology, Genetic testing, Cardiomyopathy, FUKUTIN GENE, MEDICAL GENETICS, ASSOCIATION, AMERICAN-COLLEGE, DILATED CARDIOMYOPATHY, Paediatric research, CLASSIFICATION, Gene regulation, carbohydrates (lipids), JOINT CONSENSUS RECOMMENDATION, Genòmica, RESOURCE, Genetics, TRANSCRIPTION FACTOR, Gene expression, Life Sciences & Biomedicine, Molecular Biology, Genetics (clinical), Genetic diseases
وصف الملف: application/pdf; Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c17280981c333134a3fa06d7ec9729
https://hdl.handle.net/2117/364726 -
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المؤلفون: Antonella Pini, Enzo Ricci, Marika Pane, Denise Cassandrini, Salvatore Messina, Carla Uggetti, Raffaele Pezzani, E. Mottarelli, Gaetano Tortorella, A. Toscano, Giacomo P. Comi, A. M. Laverda, Mongini T, Carlo Minetti, Laura Morandi, Marina Mora, Antonello Ruggieri, Enrico Bertini, Simona Saredi, Gessica Vasco, Isabella Moroni, Cristina Bruno, Eugenio Mercuri, Anna D'amico, P. Boffi, Carmela Scuderi, Angela Berardinelli, Maurizio Moggio, Roberta Biancheri, Filippo M. Santorelli, Carlo P. Trevisan, Chiara Aiello, Elena Pegoraro, Alessandra Tessa, Anna Pichiecchio
المصدر: Neurology. 93(8)
مصطلحات موضوعية: Pathology, Glycosylation, Bioinformatics, Compound heterozygosity, medicine.disease_cause, Mannosyltransferases, Muscular Dystrophies, WALKER-WARBURG-SYNDROME, Cohort Studies, chemistry.chemical_compound, Prevalence, Muscular dystrophy, Child, Dystroglycans, Genetics, Mutation, medicine.diagnostic_test, biology, Brain, Magnetic Resonance Imaging, Phenotype, Italy, Child, Preschool, FUKUTIN GENE-MUTATIONS, PROTEIN GENE, Population study, Female, CLINICAL SPECTRUM, ALPHA-DYSTROGLYCAN, medicine.medical_specialty, Adolescent, EYE-BRAIN DISEASE, N-Acetylglucosaminyltransferases, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Dystroglycan, Humans, ABNORMAL GLYCOSYLATION, Pentosyltransferases, Muscle, Skeletal, POMT2 MUTATIONS, Muscle biopsy, business.industry, Glycosyltransferases, Infant, Membrane Proteins, Proteins, Regret, medicine.disease, Fukutin, chemistry, POMGNT1 MUTATIONS, biology.protein, Neurology (clinical), business, MENTAL-RETARDATION
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75a57bbafa5ff8e2973a4b552718ec0
https://pubmed.ncbi.nlm.nih.gov/19299310 -
5دورية أكاديمية
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6دورية أكاديمية
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المؤلفون: Nicolas Laurent, Iain B. H. Wilson, Sara Kaloo, Sabine L. Flitsch, Josef Voglmeir, Marco M. Meloni, Lisa Bohlmann
المساهمون: Manchester Interdisciplinary Biocentre (MIB), Room 3.020, University of Manchester [Manchester]
المصدر: Biochemical Journal
Biochemical Journal, Portland Press, 2011, 436 (2), pp.447-455. ⟨10.1042/BJ20101059⟩مصطلحات موضوعية: Male, Mutant, Mannose, CMD, congenital muscular dystrophy, Biochemistry, Substrate Specificity, FKTN, fukutin gene, β-DG, β-dystroglycan, chemistry.chemical_compound, α-DG, α-dystroglycan, 0302 clinical medicine, Protein structure, Fmoc, fluoren-9-ylmethoxycarbonyl, Child, Dystroglycans, LGMD, limb-girdle muscular dystrophy, chemistry.chemical_classification, congenital muscular dystrophy, POMT2, protein-O-mannosyltransferase 2, WWS, Walker–Warburg syndrome, 0303 health sciences, Walker-Warburg Syndrome, Life Sciences, 3. Good health, glycopeptide, IPTG, isopropyl β-D-thiogalactopyranoside, Child, Preschool, LB, Luria–Bertani, Female, Research Article, Glycosylation, Adolescent, GnTI, N-acetylglucosaminyltransferase I, MALDI–TOF, matrix-assisted laser-desorption ionization–time-of-flight, Biology, N-Acetylglucosaminyltransferases, POMGnT1, protein-O-mannose N-acetylglucosaminyltransferase 1, LARGE, like-acetylglucosaminyltransferase gene, Young Adult, 03 medical and health sciences, Glycosyltransferase, Humans, Point Mutation, protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1), SPSS, solid-phase peptide synthesis, Molecular Biology, 030304 developmental biology, POMT1, protein-O-mannosyltransferase 1, FKRP, fukutin-related protein gene, muscleeye-brain disease, Point mutation, Glycosyltransferases, Infant, Cell Biology, Molecular biology, Peptide Fragments, Enzyme, chemistry, MEB, muscle-eye-brain disease, Mutation, biology.protein, rPOMGnT1, recombinant protein-O-mannose N-acetylglucosaminyltransferase 1, Glycoprotein, CK, creatine kinase, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cfe0ef472eddbff8f69248e575e829a
https://hal.archives-ouvertes.fr/hal-00592577/document -
8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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