المؤلفون: Pakdaman, Y, Berland, S, Bustad, HJ, Erdal, S, Thompson, BA, James, PA, Power, KN, Ellingsen, S, Krooni, M, Berge, LI, Sexton, A, Bindoff, LA, Knappskog, PM, Johansson, S, Aukrust, I

مصطلحات موضوعية: 0399 Other Chemical Sciences, 0604 Genetics, 0699 Other Biological Sciences, Chemical Physics, Adult, Age of Onset, Aged, Family, Female, Frontotemporal Dementia, Gene Expression, Genes, Dominant, Recessive, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Protein Folding, Spinocerebellar Ataxias, Ubiquitin-Protein Ligases

وصف الملف: Electronic; application/pdf

العلاقة: Int J Mol Sci; Int J Mol Sci, 2021, 22, (11); http://hdl.handle.net/10453/154986Test

الإتاحة: http://hdl.handle.net/10453/154986Test

المؤلفون: Pakdaman, Y, Berland, S, Bustad, HJ, Erdal, S, Thompson, BA, James, PA, Power, KN, Ellingsen, S, Krooni, M, Berge, LI, Sexton, A, Bindoff, LA, Knappskog, PM, Johansson, S, Aukrust, I

العلاقة: pii: ijms22115870; Pakdaman, Y., Berland, S., Bustad, H. J., Erdal, S., Thompson, B. A., James, P. A., Power, K. N., Ellingsen, S., Krooni, M., Berge, L. I., Sexton, A., Bindoff, L. A., Knappskog, P. M., Johansson, S. & Aukrust, I. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (11), https://doi.org/10.3390/ijms22115870Test.; http://hdl.handle.net/11343/301881Test

الإتاحة: https://doi.org/10.3390/ijms22115870Test
http://hdl.handle.net/11343/301881Test