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1دورية أكاديمية
المؤلفون: Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: case report, Menkes disease, novel ATP7A variant, ACY deficiency, overlapping phenotype, delayed copper therapy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1077625/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Sai Yuan, Tamara Korolnek, Byung-Eun Kim
المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)
مصطلحات موضوعية: copper transport, copper defficiency, intestine, Menkes disease, elesclomol, ATP7A copper exporter, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.856300/fullTest; https://doaj.org/toc/2296-634XTest
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3دورية أكاديمية
المؤلفون: Xiufang Zhi, Qi Ai, Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Dong Li, Chunquan Cai
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: ATP7A gene, Menkes disease, whole genome sequencing, RNA sequencing, deep intronic variants, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.852764/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)
مصطلحات موضوعية: ATP7A, Menkes disease, occipital horn syndrome, genotype-phenotype, splice site mutations, splice-variant, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2021.532291/fullTest; https://doaj.org/toc/1662-5099Test
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5دورية أكاديمية
المصدر: Frontiers in Molecular Neuroscience, Vol 9 (2016)
مصطلحات موضوعية: Copper, regulation, Wilson disease, Menkes disease, Iron-copper Interaction, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://journal.frontiersin.org/Journal/10.3389/fnmol.2016.00068/fullTest; https://doaj.org/toc/1662-5099Test
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6دورية أكاديمية
المؤلفون: malgorzata elenartowicz, Wojciech eKrzeptowski, Paweł eLipinski, Pawel eGrzmil, Rafał eStarzyński, Olga ePierzchała, Lisbeth Birk eMøller
المصدر: Frontiers in Molecular Neuroscience, Vol 8 (2015)
مصطلحات موضوعية: Animal Models, ATP7A, Menkes disease, Copper metabolism, Mottled mice, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://journal.frontiersin.org/Journal/10.3389/fnmol.2015.00072/fullTest; https://doaj.org/toc/1662-5099Test
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7دورية أكاديمية
المصدر: Frontiers in Aging Neuroscience, Vol 5 (2013)
مصطلحات موضوعية: Copper, copper homeostasis, ATP7A, Wilson disease, Menkes disease, ATP7B, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://journal.frontiersin.org/Journal/10.3389/fnagi.2013.00044/fullTest; https://doaj.org/toc/1663-4365Test
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المؤلفون: Ya Hui eHung, Ashley I. Bush, Sharon eLa Fontaine
المصدر: Frontiers in Physiology
Frontiers in Physiology, Vol 4 (2013)مصطلحات موضوعية: Genetically modified mouse, Apolipoprotein E, Physiology, ATP7A, Hyperphosphorylation, Review Article, amyloid precursor protein, Biology, lcsh:Physiology, chemistry.chemical_compound, Physiology (medical), Amyloid precursor protein, medicine, tau, Lipid raft, Aβ, lipid rafts, lcsh:QP1-981, Cholesterol, cholesterol, Alzheimer's disease, medicine.disease, chemistry, Biochemistry, copper, biology.protein, Menkes disease, lipids (amino acids, peptides, and proteins), Alzheimer’s disease, ApoE
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01df1c8a44ed4a7276084fdd3ba820fTest
http://europepmc.org/articles/PMC3655288Test -
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المؤلفون: Katja M. Kanninen, Jari Koistinaho, Sarah J. Parker, Anthony R. White
المصدر: Frontiers in Aging Neuroscience, Vol 5 (2013)
Frontiers in Aging Neuroscienceمصطلحات موضوعية: Aging, Neurodegeneration with brain iron accumulation, business.industry, Cognitive Neuroscience, Iron, Neurodegeneration, neurodegeneration, Disease, Review Article, medicine.disease, lcsh:RC321-571, Zinc, Protein stabilisation, Metals, Early adulthood, medicine, Menkes disease, business, Neuroscience, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Copper, Neuronal Ceroid-Lipofuscinoses, childhood
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8a2ebc66315e7ebac4b5048df5061bTest
http://journal.frontiersin.org/Journal/10.3389/fnagi.2013.00014/fullTest