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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Oftedal BE, Hellesen A, Erichsen MM, Bratland E, Vardi A, Perheentupa J, Kemp EH, Fiskerstrand T, Viken MK, Weetman AP, Fleishman SJ, Banka S, Newman WG, Sewell WA, Sozaeva LS, Zayats T, Haugarvoll K, Orlova EM, Haavik J, Johansson S, Knappskog PM, Løvås K, Wolff AS, Abramson J, Husebye ES. Oftedal BE, et al. Among authors: haugarvoll k. Immunity. 2015 Jun 16;42(6):1185-96. doi: 10.1016/j.immuni.2015.04.021. Immunity. 2015. PMID: 26084028 Free article.
HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.
Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. Tzoulis C, et al. Among authors: haugarvoll k. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. Proc Natl Acad Sci U S A. 2015. PMID: 25825781 Free PMC article. No abstract available.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Pakdaman Y, Sanchez-Guixé M, Kleppe R, Erdal S, Bustad HJ, Bjørkhaug L, Haugarvoll K, Tzoulis C, Heimdal K, Knappskog PM, Johansson S, Aukrust I. Pakdaman Y, et al. Among authors: haugarvoll k. Biosci Rep. 2017 Apr 28;37(2):BSR20170251. doi: 10.1042/BSR20170251. Print 2017 Apr 30. Biosci Rep. 2017. PMID: 28396517 Free PMC article.
59 results