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1دورية أكاديمية
المؤلفون: Rosalind H.M. King, David Chandler, Sash Lopaticki, Dexing Huang, Julian Blake, John R. Muddle, Trevor Kilpatrick, Michelle Nourallah, Toshiyuki Miyata, Tomohiko Okuda, Kim W. Carter, Michael Hunter, Dora Angelicheva, Grant Morahan, Luba Kalaydjieva
المصدر: Neurobiology of Disease, Vol 42, Iss 3, Pp 368-380 (2011)
مصطلحات موضوعية: CMT4D, Mouse, Demyelination, Peripheral nerve, Gene expression, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996111000519Test; https://doaj.org/toc/1095-953XTest
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المؤلفون: Gerard Fejes-Toth, Aniko Naray Fejes-Toth, Florian Lang, Steven Einheber, James L. Salzer, Grant Morahan, Maria Laura Feltri, Luba Kalaydjieva, Ethan M. Grund, Bradley A. Heller, Monica Ghidinelli, Ryan Smith, Jakob Voelkl, Rosalind H.M. King, David Chandler, Filippo G. Giancotti
المصدر: The Journal of Cell Biology
مصطلحات موضوعية: Neuregulin-1, Integrin, Gene Expression, Cell Cycle Proteins, Mice, Transgenic, Protein Serine-Threonine Kinases, Immediate early protein, Article, Immediate-Early Proteins, Receptors, Laminin, Mice, Phosphatidylinositol 3-Kinases, Peripheral Nervous System, medicine, Animals, Integrin-linked kinase, Axon, Neuregulin 1, Phosphorylation, Protein kinase A, Research Articles, Cells, Cultured, Myelin Sheath, Mice, Inbred BALB C, Ribosomal Protein S6, biology, urogenital system, Integrin beta4, Intracellular Signaling Peptides and Proteins, Cell Biology, Coculture Techniques, 3. Good health, Cell biology, Extracellular Matrix, Rats, medicine.anatomical_structure, nervous system, Ribosomal protein s6, biology.protein, Laminin, Schwann Cells, Signal transduction, Protein Processing, Post-Translational, Proto-Oncogene Proteins c-akt, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8937fd849e07b5682c84aa198de445dbTest
http://europepmc.org/articles/PMC3971744Test -
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المؤلفون: Rosalind H.M. King
المصدر: Diagnostic Electron Microscopy – A Practical Guide to Interpretation and Technique
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Diagnostic electron microscopy, Materials science, medicine, Anatomy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b21bec748a78a06335edb49703a13b2Test
https://doi.org/10.1002/9781118452813.ch4Test -
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المؤلفون: Shane Minogue, Claudia G. Wiedemann, Raya Al-Shawi, Stylianos Evangelou, J. Justin Hsuan, J. Paul Simons, Thomas T. Warner, Rosalind H.M. King, Talvinder S. Sihra, Mark G. Waugh, Andrzej Loesch
المصدر: Proceedings of the National Academy of Sciences. 106:11535-11539
مصطلحات موضوعية: Cerebellum, Hereditary spastic paraplegia, Biology, Minor Histocompatibility Antigens, Mice, chemistry.chemical_compound, medicine, Animals, Aspartate Aminotransferases, Phosphatidylinositol, Kinase activity, Mice, Knockout, Multidisciplinary, Kinase, Neurodegeneration, Alanine Transaminase, Biological Sciences, medicine.disease, Axons, Cell biology, Phosphotransferases (Alcohol Group Acceptor), medicine.anatomical_structure, Spinal Cord, Biochemistry, chemistry, Gliosis, Nerve Degeneration, Signal transduction, medicine.symptom, Blood Chemical Analysis, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::957fc6a356a23330c2fae27aa31f2bf9Test
https://doi.org/10.1073/pnas.0903011106Test -
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المؤلفون: Frank Baas, Marcel S G Kwa, Radka Kaneva, David Chandler, Elyshia McNamara, Velina Guergueltcheva, Ronald J.A. Wanders, Janina Hantke, Luba Kalaydjieva, Rosalind H.M. King, Ivailo Tournev, Dora Angelicheva
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience, Neurology, Genome Analysis
المصدر: European journal of human genetics, 17(12), 1606-1614. Nature Publishing Group
مصطلحات موضوعية: Population, Biology, medicine.disease_cause, Article, Mice, Exon, Hexokinase, Translational regulation, Genetics, medicine, Animals, Humans, Nervous System Physiological Phenomena, Peripheral Nerves, education, Gene, Genetics (clinical), education.field_of_study, Mutation, Alternative splicing, Intron, Exons, Physical Chromosome Mapping, medicine.disease, Immunohistochemistry, Molecular biology, Alternative Splicing, Protein Biosynthesis, 5' Untranslated Regions, Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacc8055d8a58a859d2a4cf7d093c926Test
https://doi.org/10.1038/ejhg.2009.99Test -
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المؤلفون: Mary M. Reilly, Stephanie A. Robb, Henry Houlden, Julian Blake, Lionel Ginsberg, Susan Robinson, Heinz Jungbluth, Matilde Laura, Rosalind H.M. King
المصدر: Neuromuscular Disorders. 19:264-269
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Foot Deformities, Congenital, Genotype, DNA Mutational Analysis, Schwann cell, Chromosome Disorders, Genes, Recessive, Sural nerve, Locus (genetics), Neuropathology, Biology, Compound heterozygosity, Nerve Fibers, Myelinated, Myelin, Sural Nerve, Charcot-Marie-Tooth Disease, SH3TC2, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Age of Onset, Child, Genetics (clinical), Inflammation, Genetics, Intracellular Signaling Peptides and Proteins, Proteins, Disease gene identification, Cranial Nerve Diseases, Phenotype, medicine.anatomical_structure, Scoliosis, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Respiratory Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af1c6b53d3d00cdb5eb5ab09f6c1f10eTest
https://doi.org/10.1016/j.nmd.2009.01.006Test -
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المؤلفون: Bryan Paul Morgan, Valeria Ramaglia, Frank Baas, Rosalind H.M. King
المساهمون: Genome Analysis, Amsterdam Neuroscience, Neurology
المصدر: Molecular immunology, 46(8-9), 1892-1896. Elsevier Limited
مصطلحات موضوعية: Male, Wallerian degeneration, Time Factors, Immunology, Regulator, CD59 Antigens, Biology, Cell membrane, Myelin, Mice, medicine, Animals, Chemical Precipitation, Trauma, Nervous System, Molecular Biology, Mice, Knockout, Macrophages, Complement System Proteins, medicine.disease, Complement C9, Axons, Complement system, Cell biology, Complement (complexity), medicine.anatomical_structure, nervous system, Peripheral nerve injury, Disease Progression, Complement membrane attack complex, Wallerian Degeneration
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e813e53711d6aa103fa2e738279e43bTest
https://doi.org/10.1016/j.molimm.2009.01.017Test -
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المؤلفون: L Lawrence, Mark A. Pook, Zoe Webster, Margaret B. Lowrie, Dhaval Varshney, Julian Blake, Sahar Al-Mahdawi, Rosalind H.M. King, J. Mark Cooper, Ricardo Mouro Pinto, S. Hughes
المصدر: Genomics. 88(5):580-590
مصطلحات موضوعية: Genetically modified mouse, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Transgene, GAA repeat, Gene Expression, Mice, Transgenic, Article, Mouse model, Electron Transport, Mice, Ganglia, Spinal, Iron-Binding Proteins, medicine, Genetics, Animals, Humans, RNA, Messenger, Aconitate Hydratase, Mice, Knockout, Neurons, FRDA, biology, Frataxin, Myocardium, Neurodegeneration, Iron-binding proteins, Genomics, medicine.disease, Cell biology, Electrophysiology, Disease Models, Animal, Oxidative Stress, Phenotype, Friedreich Ataxia, Knockout mouse, FXN, biology.protein, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c024106122e2d3b708e3a67254447edfTest
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المؤلفون: Encarna Guillén-Navarro, Rosalind H.M. King, Rebecca Gooding, Dora Angelicheva, Andrés Nascimento, Jaume Colomer, Luba Kalaydjieva, Yesim Parman, Joan Conill
المصدر: Neuromuscular Disorders. 16:449-453
مصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, Disease, Biology, Charcot-Marie-Tooth Disease, SH3TC2, Humans, Point Mutation, Age of Onset, First-degree relatives, Child, Genetics (clinical), Genetics, Point mutation, Homozygote, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Middle Aged, Founder Effect, Pedigree, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Age of onset, Polymorphism, Restriction Fragment Length, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cd75b4ec2d9b9ad305c0b48302b2c60Test
https://doi.org/10.1016/j.nmd.2006.05.005Test -
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المؤلفون: Rosalind H.M. King, Despoina Gkotsi, Deborah Kamal, Anthony H.V. Schapira, Philip J. Luthert, David F. Garway-Heath, Haogang Zhu, Ivan Gout, Gerassimos Lascaratos, Kai-Yin Chau
المصدر: Neurobiology of Disease, Vol 82, Iss, Pp 78-85 (2015)
مصطلحات موضوعية: Male, Intraocular pressure, medicine.medical_specialty, genetic structures, Ocular hypertension, Glaucoma, Mitochondrion, medicine.disease_cause, DNA, Mitochondrial, lcsh:RC321-571, Optic neuropathy, Internal medicine, Normal tension glaucoma, Optic Nerve Diseases, medicine, Humans, Prospective Studies, Neurodegeneration, Phosphorylation, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Intraocular Pressure, Aged, Aged, 80 and over, Membrane Potential, Mitochondrial, business.industry, Middle Aged, medicine.disease, eye diseases, Mitochondria, Oxidative Stress, Endocrinology, Neurology, Female, business, Neuroscience, Oxidative stress
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4666c0c410ad6badb7974ed38be89e8eTest
https://pubmed.ncbi.nlm.nih.gov/26054436Test