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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: 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: 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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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