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المؤلفون: Hannes Lohi, Tosso Leeb, Kaisa Kyöstilä, Isabelle Schmutz, Theresa Störk, Vidhya Jagannathan, Enrice Hünerfauth, Jasmin Nessler, Wolfgang Baumgärtner, Linda Anderegg, Andrea Tipold
المساهمون: Department of Medical and Clinical Genetics, Veterinary Biosciences, Helsinki One Health (HOH), Haartman Institute (-2014), Hannes Tapani Lohi / Principal Investigator, Veterinary Genetics
المصدر: Störk, Theresa; Nessler, Jasmin; Anderegg, Linda; Hünerfauth, Enrice; Schmutz, Isabelle; Jagannathan, Vidya; Kyöstilä, Kaisa; Lohi, Hannes; Baumgärtner, Wolfgang; Tipold, Andrea; Leeb, Tosso (2019). TSEN54 missense variant in Standard Schnauzers with leukodystrophy. PLoS genetics, 15(10), e1008411. Public Library of Science 10.1371/journal.pgen.1008411 <http://dx.doi.org/10.1371/journal.pgen.1008411Test>
PLoS Genetics
PLoS Genetics, Vol 15, Iss 10, p e1008411 (2019)
PLOS Geneticsمصطلحات موضوعية: Central Nervous System, Pathology, Cancer Research, Heredity, Genetic Linkage, OLIVOPONTOCEREBELLAR HYPOPLASIA, QH426-470, 413 Veterinary science, Nervous System, Diagnostic Radiology, 0302 clinical medicine, DEMYELINATION, Centrum semiovale, Medicine and Health Sciences, Missense mutation, Genetics(clinical), Dog Diseases, Genetics (clinical), Myelin Sheath, Mammals, 0303 health sciences, Mammalian Genomics, 630 Agriculture, Pets and Companion Animals, ABNORMALITIES, Radiology and Imaging, Homozygote, 1184 Genetics, developmental biology, physiology, Eukaryota, Brain, Genomics, Disease gene identification, Magnetic Resonance Imaging, FATAL INFANTILE ENCEPHALOPATHY, 3. Good health, GENOME, Genetic Mapping, medicine.anatomical_structure, Phenotype, Vertebrates, 590 Animals (Zoology), medicine.symptom, Anatomy, Research Article, Veterinary Medicine, medicine.medical_specialty, Ataxia, Genotype, Imaging Techniques, Animal Types, Pontocerebellar hypoplasia, Mutation, Missense, Variant Genotypes, 610 Medicine & health, Biology, Research and Analysis Methods, AXONAL DAMAGE, White matter, 03 medical and health sciences, Dogs, Diagnostic Medicine, Endoribonucleases, medicine, Genetics, Animals, Humans, GLOBOID-CELL LEUKODYSTROPHY, Molecular Biology, Cerebrum, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, MUTATIONS, Leukodystrophy, CENTRAL-NERVOUS-SYSTEM, Organisms, Biology and Life Sciences, medicine.disease, GENE, Hydrocephalus, Leukodystrophy, Globoid Cell, Animal Genomics, Amniotes, 570 Life sciences, biology, Veterinary Science, Zoology, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb305ae954453b8d951c8f33aeff0a5eTest
https://boris.unibe.ch/133748/1/epub__journal.pgen.1008411.pdfTest -
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المؤلفون: Se In Sung, Won Soon Park, So Yoon Ahn, Jang Hoon Lee, Yun Sil Chang
المصدر: PLoS ONE
PLoS ONE, Vol 13, Iss 10, p e0206306 (2018)مصطلحات موضوعية: Male, Physiology, lcsh:Medicine, Apoptosis, Pathology and Laboratory Medicine, Vascular Medicine, Dexamethasone, Diagnostic Radiology, Rats, Sprague-Dawley, 0302 clinical medicine, Immune Physiology, Medicine and Health Sciences, Brain Damage, lcsh:Science, Immune Response, Innate Immune System, Multidisciplinary, Cell Death, Radiology and Imaging, Interleukin, Brain, Magnetic Resonance Imaging, Immunohistochemistry, Body Fluids, Intraventricular hemorrhage, Blood, Neuroprotective Agents, Neurology, Cell Processes, Cytokines, medicine.symptom, Anatomy, medicine.drug, Research Article, Hydrocephalus, medicine.medical_specialty, Imaging Techniques, Immunology, Inflammation, Hemorrhage, Brain damage, Research and Analysis Methods, Neuroprotection, Proinflammatory cytokine, 03 medical and health sciences, Signs and Symptoms, Diagnostic Medicine, 030225 pediatrics, Internal medicine, medicine, Animals, Cerebral Intraventricular Hemorrhage, business.industry, lcsh:R, Biology and Life Sciences, Cell Biology, Molecular Development, medicine.disease, Rats, Endocrinology, Immune System, lcsh:Q, business, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3c5ea63180b3a7cccc75327ad1a2eeaTest
http://europepmc.org/articles/PMC6201923Test -
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المؤلفون: Lucinda Hughes, Jun Young Park, Seo-Hee Cho, Raehee Park, Randy L. Johnson, Seonhee Kim, Uk Yeol Moon
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-14 (2016)
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Ependymal Cell, Science, Blotting, Western, Regulator, General Physics and Astronomy, Cell Cycle Proteins, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, chemistry.chemical_compound, Ependyma, Precursor cell, Lysophosphatidic acid, medicine, Animals, Adaptor Proteins, Signal Transducing, Hippo signaling pathway, Multidisciplinary, Cadherin, fungi, Cerebral Aqueduct, Brain, Gene Expression Regulation, Developmental, YAP-Signaling Proteins, General Chemistry, Anatomy, Cadherins, Phosphoproteins, Immunohistochemistry, Cell biology, nervous system diseases, Fetal Diseases, 030104 developmental biology, medicine.anatomical_structure, chemistry, Cerebral aqueduct, Lysophospholipids, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af67c60effe1f65a07718951779490afTest
https://doaj.org/article/c946f2033a91434ead953a458b67b434Test -
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المؤلفون: Lynne E. Bilston, Lauriane Jugé, Shaokoon Cheng, Alice C. Pong
المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 8, p e0182808 (2017)مصطلحات موضوعية: Central Nervous System, Aging, lcsh:Medicine, Brain tissue, Cisterna magna, Nervous System, 030218 nuclear medicine & medical imaging, Stiffness, Diagnostic Radiology, Rats, Sprague-Dawley, 0302 clinical medicine, Medicine and Health Sciences, lcsh:Science, Mammals, Brain Diseases, Multidisciplinary, medicine.diagnostic_test, Physics, Radiology and Imaging, Biomechanics, Classical Mechanics, Brain, Anatomy, Animal Models, Magnetic Resonance Imaging, Deformation, medicine.anatomical_structure, Neurology, Experimental Organism Systems, Physical Sciences, Vertebrates, Acute Disease, Female, Elastography, Research Article, Hydrocephalus, Imaging Techniques, Materials Science, Material Properties, Research and Analysis Methods, Rodents, 03 medical and health sciences, Model Organisms, Diagnostic Medicine, medicine, Juvenile, Mechanical Properties, Animals, Damage Mechanics, business.industry, lcsh:R, Organisms, Biology and Life Sciences, Magnetic resonance imaging, medicine.disease, Rats, Ventricle, Amniotes, lcsh:Q, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6277250a3cd5cc1b93ed0abcac4377f6Test
http://europepmc.org/articles/PMC5570303Test -
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المؤلفون: Helen Williams
المصدر: Medical hypotheses. 94
مصطلحات موضوعية: Central Nervous System, Intracranial Pressure, Movement, Positive pressure, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Normal pressure hydrocephalus, medicine, Animals, Humans, Intracranial pressure, Chiari malformation, Medicine(all), Heart Failure, Chemistry, Skull, Models, Cardiovascular, Brain, Body movement, General Medicine, Anatomy, Arteries, medicine.disease, Hydrocephalus, Arnold-Chiari Malformation, Compliance (physiology), Rhombencephalon, Venous Insufficiency, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f59f737f22fde05fc3feecc2403960efTest
https://pubmed.ncbi.nlm.nih.gov/27515195Test -
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المؤلفون: Lukmanee Tradtrantip, Alan S. Verkman, Alex J. Smith, Xiaoming Yao
مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, Ependymal Cell, Central nervous system, Aquaporin, Review, Aquaporins, 03 medical and health sciences, 0302 clinical medicine, Cerebrospinal fluid, Body Water, Medicine, Animals, Humans, business.industry, Brain, General Medicine, Anatomy, medicine.disease, Hydrocephalus, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Knockout mouse, Choroid Plexus, Surgery, Choroid plexus, Neurology (clinical), sense organs, business, 030217 neurology & neurosurgery, Astrocyte
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::496abb5eaf5fbddeb98be022943d86e0Test
https://europepmc.org/articles/PMC5969073Test/ -
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المؤلفون: Didem Turgut Coşan, Nilüfer Erkasap, Tevfik Erhan Cosan, Murat Vural, Cengiz Bal, Kubilay Uzuner
المصدر: Turkish Neurosurgery.
مصطلحات موضوعية: Male, medicine.medical_treatment, Subarachnoid Space, Injections, Rats, Sprague-Dawley, 03 medical and health sciences, 0302 clinical medicine, Parenchyma, Pressure, medicine, Animals, Kaolin, Saline, Parenchymal Tissue, business.industry, Brain, Anatomy, medicine.disease, Rats, Hydrocephalus, Injected material, medicine.anatomical_structure, Animals, Newborn, 030220 oncology & carcinogenesis, Surgery, Neurology (clinical), Subarachnoid space, business, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a2939e7f1c886a2e1bcf23f69f2b6caTest
https://doi.org/10.5137/1019-5149.jtn.18072-16.1Test -
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المؤلفون: Lynne E. Bilston, Andre Bongers, Shaokoon Cheng, Ralph Sinkus, Alice C. Pong, Lauriane Jugé
المصدر: PLoS ONE, Vol 11, Iss 2, p e0148652 (2016)
PLoS ONEمصطلحات موضوعية: Central Nervous System, Pathology, Internal capsule, lcsh:Medicine, Ventricular system, Cisterna magna, Corpus callosum, Nervous System, 030218 nuclear medicine & medical imaging, Stiffness, Diagnostic Radiology, Rats, Sprague-Dawley, 0302 clinical medicine, Materials Physics, Medicine and Health Sciences, Gray Matter, Kaolin, lcsh:Science, Microstructure, Multidisciplinary, medicine.diagnostic_test, Physics, Radiology and Imaging, Classical Mechanics, Brain, Anatomy, Condensed Matter Physics, Magnetic Resonance Imaging, White Matter, Deformation, medicine.anatomical_structure, Neurology, Physical Sciences, Elasticity Imaging Techniques, Female, Research Article, Hydrocephalus, medicine.medical_specialty, Imaging Techniques, Materials Science, Material Properties, Research and Analysis Methods, White matter, 03 medical and health sciences, Diagnostic Medicine, medicine, Mechanical Properties, Animals, Damage Mechanics, business.industry, lcsh:R, Biology and Life Sciences, Magnetic resonance imaging, medicine.disease, Anisotropy, lcsh:Q, business, 030217 neurology & neurosurgery, Diffusion MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fcd7c04a8f191cfb06dfe7fb72b1509Test
http://europepmc.org/articles/PMC4743852?pdf=renderTest -
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المصدر: Pediatric neurosurgery. 51(2)
مصطلحات موضوعية: 0301 basic medicine, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, Microscopy, Medicine, Animals, Humans, Kaolin, Myelin Sheath, integumentary system, business.industry, Brain, General Medicine, Anatomy, medicine.disease, Oligodendrocyte, Axons, nervous system diseases, Hydrocephalus, Rats, Microscopy, Electron, 030104 developmental biology, medicine.anatomical_structure, nervous system, Myelin sheath, Pediatrics, Perinatology and Child Health, Surgery, Neurology (clinical), Electron microscope, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a18024afc61326cfead1c57c6336ecf3Test
https://pubmed.ncbi.nlm.nih.gov/26761462Test -
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المؤلفون: Alfonso Lavado, Guillermo Oliver
المصدر: Development. 138:5291-5300
مصطلحات موضوعية: Ependymal Cell, Cellular differentiation, Subventricular zone, Nerve Tissue Proteins, Biology, Mice, Lateral ventricles, Cell Movement, Ependyma, Lateral Ventricles, Neuroblast migration, medicine, Animals, Eye Proteins, Molecular Biology, Research Articles, Homeodomain Proteins, Neurogenesis, Brain, Cell Differentiation, Anatomy, Mice, Mutant Strains, Cell biology, medicine.anatomical_structure, nervous system, Neuroglia, Hydrocephalus, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4daf828efca074e6e7c42fb96b60832Test
https://doi.org/10.1242/dev.067470Test