المؤلفون: Nitschke, S., Sullivan, M. A., Mitra, S., Marchioni, C. R., Lee, J. P. Y., Smith, B. H., Ahonen, S., Wu, J., Chown, E. E., Wang, P., Petković, S., Zhao, X., Digiovanni, L. F., Perri, A. M., Israelian, L., Grossman, T. R., Kordasiewicz, H., Vilaplana, Francisco, 1979, Iwai, K., Nitschke, F., Minassian, B. A.

المصدر: Brain. 145(7):2361-2377

مصطلحات موضوعية: antisense oligonucleotide (ASO) therapy, glycogen synthase, neuroinflammation, PGBM1 (polyglucosan body myopathy 1), RBCK1/HOIL1, 4 alpha glucan branching enzyme, amylopectin, glucan, glycogen, hydroxyl group, phosphatase, ubiquitin, ubiquitin protein ligase E3, non receptor protein tyrosine phosphatase, ubiquitin protein ligase, animal experiment, animal model, Article, cardiac muscle, controlled study, down regulation, enzyme deficiency, female, gait, glycogen muscle level, glycogen storage disease type 4, grip strength, histology, male, motor neuron disease, mouse, myoclonus epilepsy, nervous system inflammation, nonhuman, nonsense mediated mRNA decay, open field test, physical chemistry, protein depletion, rotarod test, spinal cord, animal, genetics, glycogen storage disease, mammal, metabolism, neurologic disease, pathology, Animals, Down-Regulation, Glucans, Glycogen Storage Disease Type IV, Lafora Disease, Mammals, Mice, Myoclonic Epilepsies, Progressive, Nervous System Diseases, Protein Tyrosine Phosphatases, Non-Receptor, Ubiquitin-Protein Ligases

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-321865Test

المؤلفون: Farkas, Amy¹ afarkas@umc.edu, Al-Ramadhani, Ruba¹, McDonald, Kimberly¹, Jordan, Meredith¹, Joyner, David¹

المصدر: Pediatric Neurology. Jan2019, Vol. 90, p70-71. 2p.

مصطلحات موضوعية: *LEUKODYSTROPHY, *PROTEIN deficiency, *DIAGNOSTIC imaging, *CONGENITAL disorders, *ENZYME deficiency, *PROTEINS