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المؤلفون: Rodrigo Gutierrez-Quintana, Annette Wessmann, Cathryn S. Mellersh, Louise M. Burmeister, Maria Ortega, Eleanor Freeman, Jacques Penderis, Lynn Stevenson, Samuel Sharpe
المساهمون: Gutierrez-Quintana, Rodrigo [0000-0002-3570-2542], Wessmann, Annette [0000-0002-1401-3318], Apollo - University of Cambridge Repository
المصدر: Journal of Veterinary Internal Medicine, Vol 35, Iss 5, Pp 2306-2314 (2021)
Journal of Veterinary Internal Medicineمصطلحات موضوعية: Pathology, medicine.medical_specialty, Heterozygote, Neurology, Veterinary medicine, Reticulophagy, Mutation, Missense, canine, Standard Article, Dogs, peripheral nervous system, Hereditary sensory and autonomic neuropathy, SF600-1100, Medicine, Missense mutation, Animals, genetics, Dog Diseases, Hereditary Sensory and Autonomic Neuropathies, Whole genome sequencing, General Veterinary, Whole Genome Sequencing, business.industry, neurology, Homozygote, medicine.disease, Breed, Standard Articles, medicine.anatomical_structure, Peripheral nervous system, Immunohistochemistry, SMALL ANIMAL, business, electrodiagnostics
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aaba2fe34541096c793f43332dec82Test
https://doaj.org/article/3e04c9c0772e409182f18cc7d36190c6Test -
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المؤلفون: Simona Capsoni, Giovanna Testa, Antonino Cattaneo
المساهمون: Testa, Giovanna, Cattaneo, Antonino, Capsoni, Simona
المصدر: Pharmacological research. 169
مصطلحات موضوعية: 0301 basic medicine, Nervous system, Nociception, NTR, Pain, Socio-culturale, Disease, Tropomyosin receptor kinase A, medicine.disease_cause, Settore BIO/09 - Fisiologia, 03 medical and health sciences, 0302 clinical medicine, Nerve growth factor, Hereditary sensory and autonomic neuropathy, Nerve Growth Factor, Medicine, Animals, Humans, Hereditary Sensory and Autonomic Neuropathies, Protein Precursors, Pharmacology, Mutation, P75, biology, business.industry, TrkA, Pain Perception, medicine.disease, P75(NTR), Hereditary sensory and autonomic neuropathie, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, biology.protein, Congenital Pain Insensitivity, business, Neuroscience, Neurotrophin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cab7ebe0ed35ec6a7a8724cef147408fTest
https://pubmed.ncbi.nlm.nih.gov/34000361Test -
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المؤلفون: Kin Yip Tam, Anbing Shi, Bin Liang, Xuanjun Zhang, Hongjie Zhang, Verena Gobel, Rong Ying, Xue Jiang, Mengqiao Cui, Jun Zheng, Gang Li
المصدر: The Journal of Neuroscience. 39:5816-5834
مصطلحات موضوعية: 0301 basic medicine, Mutant, Biology, Neuroprotection, Glycosphingolipids, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, medicine, Animals, Humans, Hereditary Sensory and Autonomic Neuropathies, Caenorhabditis elegans, Research Articles, Epithelial polarity, Neurons, Base Sequence, General Neuroscience, Serine C-palmitoyltransferase, Cell Polarity, medicine.disease, biology.organism_classification, Phenotype, Sphingolipid, Cell biology, Disease Models, Animal, 030104 developmental biology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae5c7f1c290cf56782cad2121ee9df7Test
https://doi.org/10.1523/jneurosci.2541-18.2019Test -
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المصدر: Human Molecular Genetics. 27:3598-3611
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, Dystonin, Nerve Tissue Proteins, Biology, Microtubules, Cell Line, Mice, 03 medical and health sciences, Tubulin, Microtubule, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Animals, Protein Isoforms, Hereditary Sensory and Autonomic Neuropathies, Axon, Molecular Biology, Genetics (clinical), Neurons, Regulation of gene expression, Acetylation, General Medicine, medicine.disease, Up-Regulation, Cell biology, Cytoskeletal Proteins, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Dystonic Disorders, biology.protein, Protein Processing, Post-Translational
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ef7ce3f7157f3e279949a89f9de2e9Test
https://doi.org/10.1093/hmg/ddy250Test -
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المؤلفون: Eicke Latz, Victor Saavedra, Matthew Mangan, Anke Penno, Mario A. Lauterbach, Lars Kuerschner, Christoph Thiele
المصدر: Autophagy
Autophagy 17(8), 1947-1961 (2021). doi:10.1080/15548627.2020.1804677مصطلحات موضوعية: 0301 basic medicine, Autophagosome, Inflammasomes, metabolism [NLR Family, Pyrin Domain-Containing 3 Protein], metabolism [Lysosomes], doxSA, Hereditary sensory and autonomic neuropathy, Macrophage, HSAN1, drug effects [Lysosomes], innate immunity, pharmacology [Sphingolipids], metabolism [Inflammation], metabolism [Autophagosomes], Cell biology, drug effects [Inflammasomes], medicine.anatomical_structure, metabolism [Fibroblasts], Research Paper, drug effects [Autophagy], macrophage, Biology, crystal, drug effects [NLR Family, Pyrin Domain-Containing 3 Protein], 03 medical and health sciences, lipid, ddc:570, Lysosome, NLR Family, Pyrin Domain-Containing 3 Protein, medicine, Autophagy, Animals, Molecular Biology, drug effects [Fibroblasts], Inflammation, Sphingolipids, Innate immune system, 030102 biochemistry & molecular biology, Autophagosomes, Cell Biology, Fibroblasts, medicine.disease, Sphingolipid, Mice, Inbred C57BL, 030104 developmental biology, drug effects [Autophagosomes], NLRP3 inflammasome activation, Lysosomes, metabolism [Inflammasomes]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7633b2425588b3dc8eb6ca3aa34a32Test
https://pubmed.ncbi.nlm.nih.gov/32835606Test -
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المؤلفون: Yves De Repentigny, James Butcher, Sabrina Gagnon, Rashmi Kothary, Anisha Lynch-Godrei, Alain Stintzi, Rebecca A. Yaworski, Juliana Manoogian
المصدر: Neurogastroenterology & Motility. 32
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Ataxia, Dystonin, Physiology, Enteric Nervous System, Mice, 03 medical and health sciences, 0302 clinical medicine, Dorsal root ganglion, Hereditary sensory and autonomic neuropathy, medicine, Animals, Hereditary Sensory and Autonomic Neuropathies, Dystonia, Endocrine and Autonomic Systems, business.industry, Neurodegeneration, Gastroenterology, medicine.disease, Mice, Mutant Strains, Gastrointestinal Microbiome, 3. Good health, Gastrointestinal Tract, Mice, Inbred C57BL, Disease Models, Animal, Autonomic nervous system, 030104 developmental biology, medicine.anatomical_structure, Mutation, Enteric nervous system, medicine.symptom, business, human activities, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4c32b1f76ab2b70b9b74a12e63ce3aTest
https://doi.org/10.1111/nmo.13773Test -
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المؤلفون: Kijung Sung, Wanlin Yang, William C. Mobley, Michael T. Maloney, Luiz F. Ferrari, Matthew L. Pearn, ChiHye Chung, Chengbiao Wu, Yingli Gu, Jon D. Levine, Bianxiao Cui, Kai Zhang, Xiaobei Zhao, Suzhen Lin
المصدر: The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 38, iss 14
مصطلحات موضوعية: Male, Nociception, 0301 basic medicine, sensory neuron, Tropomyosin receptor kinase A, Medical and Health Sciences, PC12 Cells, Rats, Sprague-Dawley, Mice, 0302 clinical medicine, Neurotrophic factors, Receptors, Nerve Growth Factor, Hereditary sensory and autonomic neuropathy, Hereditary Sensory and Autonomic Neuropathies, Receptor, Research Articles, Cells, Cultured, NGF, Cultured, TrkA, trophic, Chemistry, Growth Factor, General Neuroscience, Pain Research, 3T3 Cells, Cell biology, medicine.anatomical_structure, Neurological, Hyperalgesia, Chronic Pain, medicine.symptom, Signal transduction, Protein Binding, Signal Transduction, p75, Cells, Mutation, Missense, Nerve Tissue Proteins, Receptors, Nerve Growth Factor, Biology, 03 medical and health sciences, medicine, Animals, Humans, Receptors, Growth Factor, Receptor, trkA, Peripheral Neuropathy, Neurology & Neurosurgery, Psychology and Cognitive Sciences, Wild type, Neurosciences, medicine.disease, Sensory neuron, Rats, HEK293 Cells, 030104 developmental biology, Nerve growth factor, nervous system, Mutation, Sprague-Dawley, Missense, Neuroscience, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cccb38002beb168e3299036c766c3a3Test
https://doi.org/10.1523/jneurosci.1686-17.2018Test -
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المؤلفون: Frances Lefcort, Yumi Ueki, Lynn George, Sarah B. Ohlen, Marc Mergy
المصدر: Clin Auton Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurology, Central nervous system, Neural degeneration, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Hereditary sensory and autonomic neuropathy, Dysautonomia, Familial, medicine, Animals, Humans, Amyotrophic lateral sclerosis, IKBKAP, Endocrine and Autonomic Systems, business.industry, Stem Cells, medicine.disease, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Familial dysautonomia, Neurology (clinical), business, Neural development, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7234071500e677d8c97e52d3aadc21c8Test
https://doi.org/10.1007/s10286-017-0438-2Test -
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المؤلفون: Dominik Schwudke, Christopher J. H. Elliott, Sean T. Sweeney, Samantha Hindle, Sarita Hebbar
المصدر: Neurobiology of Disease, Vol 98, Iss, Pp 77-87 (2017)
Neurobiology of Diseaseمصطلحات موضوعية: 0301 basic medicine, Aging, Lysosomal Storage Diseases, Nervous System, Cellular pathology, Prosaposin deficiency, Mutant, Lysosomal storage disease, Antiporters, Saposins, Animals, Genetically Modified, 0302 clinical medicine, Sphingosine, Drosophila Proteins, Homeostasis, GFP, green fluorescent protein, Neurons, Brain, Neurodegenerative Diseases, ERG, electroretinograms, 3. Good health, Cell biology, Drosophila melanogaster, Phenotype, PSAP, prosaposin, Neurology, HSAN1, hereditary sensory and autonomic neuropathy type 1, MVB, multivesicular body, MLB, multilamellar body, Saposin, Drosophila, Neuroglia, chemistry.chemical_element, Sensory system, Progressive neurodegeneration, Calcium, Biology, Ceramides, Article, lcsh:RC321-571, 03 medical and health sciences, Animals, LSD, lysosomal storage disease, NPC, Niemann-Pick type C, Neurodegeneration, TEM, transmission electron microscopy, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Calcium metabolism, Sphingolipids, Activator (genetics), RT-PCR, reverse transcription PCR, Survival Analysis, Sphingolipid, Disease Models, Animal, 030104 developmental biology, chemistry, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11889ee001ce34295528f3cb25dcc361Test
https://doi.org/10.1016/j.nbd.2016.11.012Test -
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المؤلفون: Ashraf Al-Amoudi, Christoph Thiele, Frank Bradke, Anne Gaebler, Christian Lamberz, Andrea Tedeschi, Thorsten Hornemann, Irina Alecu, Klaus Wunderling, Mario A. Lauterbach, Alaa Othman, Paul P. Van Veldhoven, Anke Penno, Lars Kuerschner, Eicke Latz, Natascha Behler, Daniela Ernst
المساهمون: University of Zurich, Penno, Anke
المصدر: Journal of Lipid Research, Vol 58, Iss 1, Pp 42-59 (2017)
Journal of lipid research 58(1), 42-59 (2016). doi:10.1194/jlr.M068676مصطلحات موضوعية: Male, 0301 basic medicine, 1303 Biochemistry, Diabetic neuropathy, blood [Diabetes Mellitus, Type 2], pathology [Peripheral Nerves], neurons, Mitochondrion, Biochemistry, pathology [Mitochondria], metabolism [Peripheral Nerves], 1307 Cell Biology, Endocrinology, Diabetic Neuropathies, 540 Chemistry, Hereditary sensory and autonomic neuropathy, blood [Lipids], Hereditary Sensory and Autonomic Neuropathies, Research Articles, 10038 Institute of Clinical Chemistry, pharmacology [Sphingolipids], diabetes, Chemistry, lipids/chemistry, drug effects [Mitochondria], blood [Sphingolipids], pathology [Diabetic Neuropathies], Lipids, Mitochondria, 1310 Endocrinology, 3. Good health, Mitochondrial toxicity, ddc:540, Oxidoreductases, metabolism [Oxidoreductases], medicine.medical_specialty, pathology [Hereditary Sensory and Autonomic Neuropathies], pathology [Diabetes Mellitus, Type 2], 610 Medicine & health, inborn errors of metabolism, QD415-436, 03 medical and health sciences, Internal medicine, medicine, Animals, Humans, Peripheral Nerves, Sphingolipids, sphingolipids, blood [Hereditary Sensory and Autonomic Neuropathies], Neurotoxicity, Cell Biology, Metabolism, metabolism [Mitochondria], medicine.disease, Sphingolipid, chemical synthesis [Sphingolipids], 030104 developmental biology, Peripheral neuropathy, Diabetes Mellitus, Type 2, dihydroceramide desaturase, blood [Diabetic Neuropathies], chemical synthesis
وصف الملف: Print-Electronic; application/pdf; 42full.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe1f4d8a40b8aec71587cce2db32ed84Test
https://doi.org/10.1194/jlr.m068676Test
