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1دورية أكاديمية
المؤلفون: Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz
المصدر: Cell Reports, Vol 43, Iss 3, Pp 113883- (2024)
مصطلحات موضوعية: CP: Neuroscience, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anna N. Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C. Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L. K. Van Hove, Jens O. Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Eva Morava, Tamas Kozicz
المصدر: Genes, Vol 14, Iss 8, p 1585 (2023)
مصطلحات موضوعية: LC3-II autophagy marker, congenital disorders of glycosylation, phosphomannomutase 2 deficiency, secondary suboptimal mitochondrial function, mitophagy, glycoproteomics, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Mehmet Utku Kucuker, Ammar G. Almorsy, Ayse Irem Sonmez, Anna N. Ligezka, Deniz Doruk Camsari, Charles P. Lewis, Paul E. Croarkin
المصدر: Frontiers in Human Neuroscience, Vol 15 (2021)
مصطلحات موضوعية: suicide, electroconvulsive therapy, repetitive transcranial magnetic simulation, transcranial direct current stimulation, vagal nerve stimulation, deep brain stimulation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4
المؤلفون: Anna N, Ligezka, Anab, Mohamed, Carlota, Pascoal, Vanessa Dos Reis, Ferreira, Suzanne, Boyer, Christina, Lam, Andrew, Edmondson, Wirginia, Krzysciak, Raphael, Golebiowski, Judit, Perez-Ortiz, Eva, Morava
المصدر: Molecular Genetics and Metabolism. 136:145-151
مصطلحات موضوعية: Congenital Disorders of Glycosylation, Endocrinology, Phosphotransferases (Phosphomutases), Endocrinology, Diabetes and Metabolism, Quality of Life, Genetics, Humans, Patient Reported Outcome Measures, Molecular Biology, Biochemistry
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5
المؤلفون: Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, Graeme J. Preston, Arianna Maiorana, Alessandra Terracciano, Maria Lisa Dentici, Elisa Pisaneschi, Antonio Novelli, Wasantha Ranatunga, Anna N. Ligezka, Bart Ghesquière, David R. Deyle, Tamas Kozicz, Filippo Pinto e Vairo, Peter Witters, Eva Morava
المصدر: Genetics in Medicine. 24:894-904
مصطلحات موضوعية: Congenital Disorders of Glycosylation, Glycosylation, Intellectual Disability, Microcephaly, Mutation, Missense, Humans, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8121cbb56239e4e50424847ce01f42
https://doi.org/10.1016/j.gim.2021.12.012 -
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المؤلفون: Kimiyo Raymond, William Brucker, Anna N. Ligezka, Austin Larson, David Cassiman, Devin Oglesbee, Tamas Kozicz, Kishore Garapati, Renee M. McGovern, Ethan O. Perlstein, Wasantha Ranatunga, Christina Lam, Silvia Radenkovic, Mayank Saraswat, Joel M. Reid, Graeme Preston, Karthik Muthusamy, Christin Johnsen, Andrew C. Edmondson, Wirginia Krzysciak, Bart Ghesquière, Eva Morava, Saadet Mercimek-Andrews, Hitoshi Yanaihara, Akhilesh Pandey, Peter Witters
المصدر: Ann Neurol
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Diabetic neuropathy, Adolescent, Rhodanine, Urinary system, Pharmacology, Article, Young Adult, chemistry.chemical_compound, Congenital Disorders of Glycosylation, sorbitol, Humans, Sorbitol, Medicine, Enzyme Inhibitors, Child, Epalrestat, Aged, therapy, PMM, business.industry, Patient Acuity, Infant, Middle Aged, Prognosis, medicine.disease, Aldose reductase inhibitor, Glycoproteomics, Peripheral neuropathy, Neurology, chemistry, Phosphotransferases (Phosphomutases), Child, Preschool, Thiazolidines, Biomarker (medicine), Female, Neurology (clinical), business, glycosylation, CDG, Biomarkers, medicine.drug
وصف الملف: Print-Electronic
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7
المؤلفون: Nele Vanhoutvin, David Cassiman, Anna N. Ligezka, Daisy Rymen, Dulce Quelhas, Eva Morava, Peter Witters, Laurien Vaes
المصدر: Genes
Volume 12
Issue 11
Genes, Vol 12, Iss 1658, p 1658 (2021)مصطلحات موضوعية: Male, Models, Molecular, genotype, QH426-470, medicine.disease_cause, Severity of Illness Index, Protein Structure, Secondary, Continuous variable, Belgium, Genotype, Child, Genotype-Phenotype Correlations, Genetics (clinical), Genetics, Genetics & Heredity, Mutation, Middle Aged, Rating score, Phenotype, DEFICIENCY, Phosphotransferases (Phosphomutases), Child, Preschool, Female, Life Sciences & Biomedicine, Adult, Adolescent, CDG-IA, NPCRS, Biology, CONGENITAL DISORDERS, DIAGNOSIS, Article, PMM2-CDG, Young Adult, medicine, Humans, Pmm2 cdg, Genetic Association Studies, Retrospective Studies, SPECTRUM, Science & Technology, MUTATIONS, GLYCOSYLATION, Infant, Retrospective cohort study, United States, mutation, congenital disorders of glycosylation
وصف الملف: application/pdf; Electronic
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المؤلفون: Andrea Accogli, Silvia Radenkovic, Wasantha Ranatunga, Anna N. Ligezka, Jean-Baptiste Rivière, Eva Morava, Yannis Trakadis
المصدر: European journal of medical genetics. 65(4)
مصطلحات موضوعية: Adult, Heterozygote, Congenital Disorders of Glycosylation, Glycosylation, Genetics, Infant, Newborn, Humans, Infant, Female, General Medicine, N-Acetylglucosaminyltransferases, Genetics (clinical)
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المؤلفون: Charles P. Lewis, Anna N. Ligezka, Paul E. Croarkin, Deniz Doruk Camsari, Ammar Almorsy, Mehmet Utku Kucuker, Ayse Irem Sonmez
المصدر: Frontiers in Human Neuroscience, Vol 15 (2021)
Frontiers in Human Neuroscienceمصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Neurosciences. Biological psychiatry. Neuropsychiatry, electroconvulsive therapy, vagal nerve stimulation, law.invention, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Electroconvulsive therapy, Randomized controlled trial, law, medicine, Psychiatry, Suicidal ideation, Biological Psychiatry, suicide, Sertraline, Suicide attempt, business.industry, repetitive transcranial magnetic simulation, Human Neuroscience, Neuromodulation (medicine), 030227 psychiatry, deep brain stimulation, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, Systematic review, Neurology, Magnetic seizure therapy, Systematic Review, medicine.symptom, transcranial direct current stimulation, business, 030217 neurology & neurosurgery, medicine.drug, RC321-571
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10
المؤلفون: Seul Kee Byeon, Silvia Radenkovic, Anna N. Ligezka, Stephen McGee, Sunnie Y.W. Wong, Angie Lichty, Akhilesh Pandey, Katie Clarkson, Tim Wood, Yuebo Zhang, Eva Morava, Mayank Saraswat, Anil K. Madugundu, Katharine Kubiak, Michael J. Friez, Wasantha Ranatunga, Taylor Fitzpatrick-Schmidt, Julie R. Jones
المصدر: Mol Genet Metab
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Glycosylation, Endocrinology, Diabetes and Metabolism, Early death, 030105 genetics & heredity, Bioinformatics, Biochemistry, Mannosyltransferases, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Congenital Disorders of Glycosylation, Intellectual Disability, Intellectual disability, Genetics, Medicine, Humans, Genetic Predisposition to Disease, Molecular Biology, Psychomotor learning, Muscle Weakness, business.industry, Muscle weakness, medicine.disease, Hypotonia, Phenotype, chemistry, Mutation, Metabolic phenotype, medicine.symptom, business, 030217 neurology & neurosurgery, Intractable seizures
وصف الملف: Print-Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0d4ae13fb63412d7d922af016600da6
https://lirias.kuleuven.be/handle/123456789/661788