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المؤلفون: Elisabeth S. Butz, Mika O. Ruonala, Uma Chandrachud, Anton Petcherski, Stephen J. Haggarty, Surya A. Reis, Wen-Ning Zhao, Madeleine C Klein, Susan L. Cotman
المصدر: Cells
Volume 8
Issue 12مصطلحات موضوعية: Autophagosome, autophagy, Batten disease, Cell, Fluspirilene, Mitochondrion, Article, Cell Line, Mice, Nicardipine, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Neuronal Ceroid-Lipofuscinoses, Drug Discovery, medicine, Animals, ddc:610, 030304 developmental biology, Calcium signaling, 0303 health sciences, Membrane Glycoproteins, Chemistry, Neurodegeneration, Autophagy, CLN3, Autophagosomes, General Medicine, medicine.disease, 3. Good health, Cell biology, medicine.anatomical_structure, Verapamil, Mevalonate pathway, neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, Molecular Chaperones
وصف الملف: application/octet-stream; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6748895c2beba6f340e22eb02091dd8fTest
http://publikationen.ub.uni-frankfurt.de/files/51693/container.zipTest -
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المؤلفون: Sara E. Mole, Uma Chandrachud, Elisabeth S. Butz, Susan L. Cotman
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866:165571
مصطلحات موضوعية: 0301 basic medicine, Batten disease, Membrane Proteins, Genomics, Disease, Gene mutation, Biology, medicine.disease, Phenotype, Lipofuscin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Mutation, Lysosomal storage disease, medicine, Animals, Humans, Molecular Medicine, Neuronal ceroid lipofuscinosis, Molecular Biology, Neuroscience, 030217 neurology & neurosurgery, Oligonucleotide Array Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016e64ad262451cc97c8d4888067baa2Test
https://doi.org/10.1016/j.bbadis.2019.165571Test -
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المؤلفون: Anton Petcherski, Aleksandra Somogyi, Ritva Tikkanen, Frances M. Platt, David A. Priestman, Mylene Huebecker, Benedikt Beckert, Susan L. Cotman, Antje Banning, Mika O. Ruonala
المصدر: International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 625
International Journal of Molecular Sciences, Vol 19, Iss 2, p 625 (2018)
International Journal of Molecular Sciencesمصطلحات موضوعية: 0301 basic medicine, Batten disease, lcsh:Chemistry, Exon, Mice, 0302 clinical medicine, Cerebellum, Gangliosides, lcsh:QH301-705.5, Spectroscopy, Membrane Glycoproteins, glycosphingolipids, Chemistry, CLN3, General Medicine, gangliosides, Computer Science Applications, Neuronal ceroid lipofuscinosis, lipids (amino acids, peptides, and proteins), neuronal ceroid lipofuscinosis, lysosomal storage disorders, Cholera Toxin, endocrine system, Lysosomal storage disorders, Catalysis, Article, Glycosphingolipids, Inorganic Chemistry, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Precursor cell, medicine, Animals, G(M3) Ganglioside, ddc:610, Physical and Theoretical Chemistry, Molecular Biology, Gene, Ganglioside, Organic Chemistry, Wild type, medicine.disease, Molecular biology, carbohydrates (lipids), Disease Models, Animal, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, Lysosomes, 030217 neurology & neurosurgery, Molecular Chaperones
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::999b4a63ee62f082c76105c6bee573d6Test
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المؤلفون: James L. Hickey, Irene Volitakis, Janine L. James, Peter J. Crouch, Anthony R. White, Katja M. Kanninen, Clare Duncan, M. D. de Jonge, Paul S. Donnelly, Susan L. Cotman, Alexandra Grubman, Jeffrey R. Liddell, Simon James
المصدر: Chem. Sci.. 5:2503-2516
مصطلحات موضوعية: Genetics, 0303 health sciences, Batten disease, Neurodegeneration, chemistry.chemical_element, General Chemistry, Calcium, Biology, medicine.disease, Biometal, Article, Cell biology, 03 medical and health sciences, 0302 clinical medicine, chemistry, Single-cell analysis, Second messenger system, medicine, Neuronal ceroid lipofuscinosis, 030217 neurology & neurosurgery, Homeostasis, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74b3e447f7fa28e606ffd867cc6b9c60Test
https://doi.org/10.1039/c4sc00316kTest -
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المؤلفون: Robert J. Huber, Susan L. Cotman, Michael A. Myre
مصطلحات موضوعية: 0301 basic medicine, Batten disease, Recombinant Fusion Proteins, Green Fluorescent Proteins, Protozoan Proteins, Biology, Dictyostelium discoideum, 03 medical and health sciences, Cellular and Molecular Neuroscience, Neuronal Ceroid-Lipofuscinoses, medicine, Cell Adhesion, Cyclic AMP, Animals, Dictyostelium, Cell adhesion, Cell Aggregation, Genetics, Chemotaxis, Gene Expression Regulation, Developmental, Cell Biology, medicine.disease, biology.organism_classification, Cell aggregation, Cell biology, 030104 developmental biology, CLN3, Neuronal ceroid lipofuscinosis, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99fdee31768acfb735eaeacb995866aaTest
https://europepmc.org/articles/PMC5569969Test/ -
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المؤلفون: Sara E. Mole, Susan L. Cotman
المصدر: Biochimica et biophysica acta. 1852(10 Pt)
مصطلحات موضوعية: Batten disease, KCTD7, Biology, engineering.material, Article, 03 medical and health sciences, 0302 clinical medicine, Batten, medicine, Kufs disease, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, NCL, medicine.disease, Phenotype, 3. Good health, Neuronal ceroid lipofuscinosis, CLN3, CLN8, engineering, Molecular Medicine, CLN, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d55dd7d2c9ad552813d1ffd9e66622Test
https://pubmed.ncbi.nlm.nih.gov/26026925Test -
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المؤلفون: Philipp Albrecht, Maria Telpoukhovskaia, S. Sakura Minami, Marcel V. Alavi, Shannon N. Leslie, Ali Taubes, Robert Y. Chen, Ian R. A. Mackenzie, Meredith Reichert, Eric J. Huang, John F. Staropoli, Li Gan, William W. Seeley, Michael E. Ward, M.-Marsel Mesulam, Ari J. Green, Andrés Cruz-Herranz, Hélène Boudin, Christian Cordano, Hsin-Yi Huang, Susan L. Cotman, Connor H. Ludwig, Eileen H. Bigio, Matthew Bogyo, Bruce L. Miller, Jeffrey M. Gelfand
المصدر: Ward, ME; Chen, R; Huang, HY; Ludwig, C; Telpoukhovskaia, M; Taubes, A; et al.(2017). Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. Science Translational Medicine, 9(385). doi: 10.1126/scitranslmed.aah5642. UCSF: Retrieved from: http://www.escholarship.org/uc/item/1zq3v8qnTest
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Heterozygote, Haploinsufficiency, Biology, medicine.disease_cause, Retina, Article, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Progranulins, Neuronal Ceroid-Lipofuscinoses, mental disorders, medicine, Lysosomal storage disease, Dementia, Animals, Humans, Cells, Cultured, Mutation, Heterozygote advantage, Retinal, General Medicine, medicine.disease, Frontal Lobe, Microscopy, Electron, 030104 developmental biology, chemistry, Frontotemporal Dementia, Intercellular Signaling Peptides and Proteins, Neuronal ceroid lipofuscinosis, Lysosomes, 030217 neurology & neurosurgery, Frontotemporal dementia
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f04ed06249f2888be15ff0db911f22Test
https://pubmed.ncbi.nlm.nih.gov/28404863Test -
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المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 50 (2012)
BMC Medical Geneticsمصطلحات موضوعية: Proband, Heterozygote, Mitochondrial DNA, lcsh:Internal medicine, Batten disease, lcsh:QH426-470, Case Report, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Humans, Genetics(clinical), Oxidative phosphorylation, lcsh:RC31-1245, Genetics (clinical), 030304 developmental biology, Membrane Potential, Mitochondrial, Comparative Genomic Hybridization, 0303 health sciences, Mutation, mtDNA depletion, Neurodegeneration, Infant, Newborn, Lysosome-Associated Membrane Glycoproteins, Membrane Proteins, CLN5, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Human genetics, DNA Polymerase gamma, 3. Good health, Neuronal ceroid lipofuscinosis, lcsh:Genetics, Phenotype, chemistry, POLG1, Penetrant (biochemical), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476d58e1eeeb65e9a647c03ed0b54428Test
http://www.biomedcentral.com/1471-2350/13/50Test -
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المؤلفون: Andrew Kirby, Rosemary Barone, Karen Leydiker, Susan L. Cotman, Mark J. Daly, Jose E. Abdenur, Amel Karaa, Elaine T. Lim, John F. Staropoli, Scott H. Coppel, Stephen G. Romansky, Marcy E. MacDonald, Naser Elbalalesy, Winnie Xin, Katherine B. Sims
المصدر: American journal of human genetics. 91(1)
مصطلحات موضوعية: Male, Proteasome Endopeptidase Complex, Potassium Channels, KCTD7, Progressive myoclonus epilepsy, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Report, Genetics, medicine, Missense mutation, Animals, Humans, Genetics(clinical), Genetics (clinical), 030304 developmental biology, 0303 health sciences, Mutation, Genetic heterogeneity, Ubiquitin, Neurodegeneration, Infant, medicine.disease, Molecular biology, 3. Good health, Pedigree, Mice, Inbred C57BL, HEK293 Cells, CLN3, Child, Preschool, Neuronal ceroid lipofuscinosis, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cc518d37c72fcf7ef4109bc28308ed0Test
https://pubmed.ncbi.nlm.nih.gov/22748208Test -
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المؤلفون: Yi Cao, John F. Staropoli, Jong-Min Lee, Sunita Biswas, Marcy E. MacDonald, Janice A. Espinola, Susan L. Cotman
المصدر: PLoS ONE
PLoS ONE, Vol 6, Iss 2, p e17118 (2011)مصطلحات موضوعية: Cerebellum, Time Factors, lcsh:Medicine, Mitochondrion, medicine.disease_cause, Mice, 0302 clinical medicine, Molecular Cell Biology, Neurobiology of Disease and Regeneration, Cluster Analysis, lcsh:Science, Cells, Cultured, Neurons, 0303 health sciences, Mutation, Multidisciplinary, Membrane Glycoproteins, Genomics, Mitochondrial Proton-Translocating ATPases, Cellular Structures, Cell biology, Cerebellar Disorders, medicine.anatomical_structure, CLN3, Neurology, Medicine, Membranes and Sorting, Research Article, Signal Transduction, Cell Survival, Protein subunit, Mice, Transgenic, Biology, 03 medical and health sciences, Genetic Mutation, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Animals, Humans, 030304 developmental biology, Endoplasmic reticulum, Gene Expression Profiling, lcsh:R, Membrane Proteins, medicine.disease, Microarray Analysis, Molecular biology, ATP synthase subunit C, Mice, Inbred C57BL, Protein Subunits, Subcellular Organelles, Mutational Hypotheses, Genetics of Disease, biology.protein, Neuronal ceroid lipofuscinosis, lcsh:Q, Genome Expression Analysis, 030217 neurology & neurosurgery, Neuroscience, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e4863f165e26406519c602829abd6fTest
http://europepmc.org/articles/PMC3040763Test
