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1دورية أكاديمية
المؤلفون: Litsa Karageorgos, Leanne Hein, Tina Rozaklis, Melissa Adams, Stephen Duplock, Marten Snel, Kim Hemsley, Tim Kuchel, Nicholas Smith, John J. Hopwood
المصدر: Neurobiology of Disease, Vol 91, Iss , Pp 143-154 (2016)
مصطلحات موضوعية: Glucocerebrosidase, Glucosylceramide, Lipid metabolism, Sheep model, Gangliosides, Sphingolipids, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Leanne K. Hein, Stephen Duplock, Maria Fuller
المصدر: Journal of Lipid Research, Vol 54, Iss 6, Pp 1691-1697 (2013)
مصطلحات موضوعية: detergent-resistant membranes, fatty acids, glucosylceramide, lysosomal disease, lysosomal dysfunction, lysosomal storage disorder, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520357242; https://doaj.org/toc/0022-2275
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3دورية أكاديمية
المؤلفون: Leanne K. Hein, Stephen Duplock, John J. Hopwood, Maria Fuller
المصدر: Journal of Lipid Research, Vol 49, Iss 8, Pp 1725-1734 (2008)
مصطلحات موضوعية: membrane rafts, detergent-resistant membranes, mass spectrometry, glucosylceramide, lysosomal storage disorder, sphingolipids, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: http://www.sciencedirect.com/science/article/pii/S0022227520346915; https://doaj.org/toc/0022-2275
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4
المؤلفون: Daniel Neumann, Paul J. Trim, John J. Hopwood, Helen Beard, Stephen Duplock, Marten F. Snel, K. Soe, Kim M. Hemsley
المصدر: Neuropathology and Applied Neurobiology. 45:715-731
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Histology, Congenic, Pathology and Forensic Medicine, Mice, Mucopolysaccharidosis III, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Amyloid precursor protein, Animals, Pathological, Mucopolysaccharidosis Type IIIA, Sanfilippo syndrome, Mice, Knockout, biology, business.industry, Neurodegeneration, Brain, medicine.disease, Phenotype, Disease Models, Animal, 030104 developmental biology, Endocrinology, Neurology, Disease Progression, alpha-Synuclein, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery, Intracellular
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5
المؤلفون: Paul J. Trim, Barbara King, Marten F. Snel, Andrew Shoubridge, Nazzmer Nazri, Meghan L. Douglass, John J. Hopwood, Stephen Duplock, Helen Beard, Kim M. Hemsley
المصدر: Journal of inherited metabolic diseaseREFERENCES. 44(3)
مصطلحات موضوعية: medicine.medical_specialty, Heterozygote, Hydrolases, Dopamine, Cerebellar Purkinje cell, Biology, medicine.disease_cause, Pathogenesis, Loss of heterozygosity, Mice, Risk Factors, Internal medicine, Genetics, medicine, Animals, Genetics (clinical), MCOLN1, Mutation, Behavior, Animal, Age Factors, Heterozygote advantage, Parkinson Disease, Disease Models, Animal, Endocrinology, alpha-Synuclein, Glucosylceramidase, Female, NPC1, Glucocerebrosidase
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6
المؤلفون: Sofia Hassiotis, Paul J. Trim, Meghan L. Setford, John J. Hopwood, Marten F. Snel, Barbara King, Stephen Duplock, Justin N. Tucker, Kim M. Hemsley, Kathryn J. Hattersley
المصدر: Experimental Neurology. 278:11-21
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Hydrolases, Mice, Transgenic, Disease, Motor Activity, law.invention, Mice, Mucopolysaccharidosis III, 03 medical and health sciences, Drug Delivery Systems, 0302 clinical medicine, Cerebrospinal fluid, Developmental Neuroscience, Gangliosidoses, GM2, law, Internal medicine, medicine, Animals, G(M3) Ganglioside, Humans, Maze Learning, Mucopolysaccharidosis Type IIIA, Dose-Response Relationship, Drug, biology, GM2 gangliosidoses, business.industry, Drug Administration Routes, Brain, Neurodegenerative Diseases, Enzyme replacement therapy, medicine.disease, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, Neurology, biology.protein, Recombinant DNA, Female, Sulfatases, Antibody, business, 030217 neurology & neurosurgery
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7
المؤلفون: Leanne K. Winner, Marten F. Snel, Stephen Duplock, Robert D. Jolly, Kim M. Hemsley, Paul J. Trim, Neil R. Marshall
المصدر: JIMD Reports ISBN: 9783662586136
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Cerebellum, Ganglioside, Microglia, business.industry, Mucopolysaccharidosis, medicine.disease, Article, Neural stem cell, Lesion, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Neuron, medicine.symptom, skin and connective tissue diseases, business, 030217 neurology & neurosurgery, Neuroinflammation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf920ac1e784362d04e51028e490bfc4
https://doi.org/10.1007/8904_2018_110 -
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المؤلفون: Kim M. Hemsley, Sandra Orgeig, Stephen Duplock, Tamara L. Paget, Marten F. Snel, Emma J. Parkinson-Lawrence
المساهمون: ERS International Congress 2017 Milan, Italy 9-13 September 2017, Orgeig, Sandra, Paget, Tamara, Duplock, Stephen, Snel, Marten, Hemsley, Kim, Parkinson-Lawrence, Emma
المصدر: Airway Cell Biology and Immunopathology.
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Mucopolysaccharidosis, Lipid metabolism, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Pulmonary surfactant, medicine, lipids (amino acids, peptides, and proteins), Mouse Lung, skin and connective tissue diseases, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66b0b4839c3a155931b8a336c8000fd7
https://doi.org/10.1183/1393003.congress-2017.pa2029 -
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المؤلفون: Marten F. Snel, John J. Hopwood, Sofia Hassiotis, Carly L. Thorsen, Stephen Duplock, Kim M. Hemsley, Lauren S. Whyte, Adeline A. Lau, Helen Beard, Paul J. Trim, Sarah J. Tamang, Barbara King
المصدر: Journal of inherited metabolic disease. 40(5)
مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Hydrolases, Mucopolysaccharidosis, 03 medical and health sciences, chemistry.chemical_compound, Mice, Mucopolysaccharidosis III, 0302 clinical medicine, Conditional gene knockout, Genetics, medicine, Animals, Pathological, Genetics (clinical), Sanfilippo syndrome, Mice, Knockout, Mice, Inbred BALB C, Glial fibrillary acidic protein, biology, Heparan sulfate, medicine.disease, Phenotype, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, chemistry, Knockout mouse, Immunology, biology.protein, 030217 neurology & neurosurgery, Biomarkers
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10
المؤلفون: Brigitte Rigat, Don J. Mahuran, Maria Fuller, Stephen Duplock, Leanne K. Hein
المصدر: Analytical Biochemistry. 458:20-26
مصطلحات موضوعية: Spectrometry, Mass, Electrospray Ionization, endocrine system, Electrospray, Biophysics, G(M2) Ganglioside, Sandhoff disease, Gangliosidosis, Mass spectrometry, Tandem mass spectrometry, Biochemistry, Cell Line, Tandem Mass Spectrometry, Leukocytes, medicine, Humans, Fibroblast, Molecular Biology, Chromatography, High Pressure Liquid, Chromatography, Ganglioside, Chemistry, Solid Phase Extraction, Tay-Sachs disease, Cell Biology, Fibroblasts, medicine.disease, beta-N-Acetylhexosaminidases, carbohydrates (lipids), medicine.anatomical_structure, lipids (amino acids, peptides, and proteins)