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1دورية أكاديمية
المؤلفون: Charlesworth, G, Angelova, PR, Bartolomé-Robledo, F, Ryten, M, Trabzuni, D, Stamelou, M, Abramov, AY, Bhatia, KP, Wood, NW
المصدر: American Journal of Human Genetics , 96 (4) pp. 657-665. (2015)
مصطلحات موضوعية: Brain, Calcium Channels, Dystonia, Genes, Recessive, Hippocalcin, Homozygote, Humans, Mutation, Pedigree
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1464984/1/1-s2.0-S0002929715000609-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1464984Test/
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2دورية أكاديمية
المؤلفون: Kinghorn, KJ, Castillo-Quan, JI, Bartolome, F, Angelova, PR, Li, L, Pope, S, Cochemé, HM, Khan, S, Asghari, S, Bhatia, KP, Hardy, J, Abramov, AY, Partridge, L
المصدر: 1816 ; 1801
مصطلحات موضوعية: Drosophila, PLA2G6, infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation, Animals, Cell Line, Drosophila Proteins, Drosophila melanogaster, Fibroblasts, Gene Knockout Techniques, Group VI Phospholipases A2, Group X Phospholipases A2, Humans, Lipid Peroxidation, Mass Spectrometry, Membrane Potential, Mitochondrial, Microscopy, Fluorescence, Mitochondria, Neurodegenerative Diseases, Oxidative Stress, Reverse Transcriptase Polymerase Chain Reaction, Neurology & Neurosurgery, 11 Medical And Health Sciences, 17 Psychology And Cognitive Sciences