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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: tofaris gk. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
The endosomal pathway in Parkinson's disease.
Perrett RM, Alexopoulou Z, Tofaris GK. Perrett RM, et al. Among authors: tofaris gk. Mol Cell Neurosci. 2015 May;66(Pt A):21-8. doi: 10.1016/j.mcn.2015.02.009. Epub 2015 Feb 19. Mol Cell Neurosci. 2015. PMID: 25701813 Review.
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
Fernandes HJ, Hartfield EM, Christian HC, Emmanoulidou E, Zheng Y, Booth H, Bogetofte H, Lang C, Ryan BJ, Sardi SP, Badger J, Vowles J, Evetts S, Tofaris GK, Vekrellis K, Talbot K, Hu MT, James W, Cowley SA, Wade-Martins R. Fernandes HJ, et al. Among authors: tofaris gk. Stem Cell Reports. 2016 Mar 8;6(3):342-56. doi: 10.1016/j.stemcr.2016.01.013. Epub 2016 Feb 18. Stem Cell Reports. 2016. PMID: 26905200 Free PMC article.
Deubiquitinase Usp8 regulates α-synuclein clearance and modifies its toxicity in Lewy body disease.
Alexopoulou Z, Lang J, Perrett RM, Elschami M, Hurry ME, Kim HT, Mazaraki D, Szabo A, Kessler BM, Goldberg AL, Ansorge O, Fulga TA, Tofaris GK. Alexopoulou Z, et al. Among authors: tofaris gk. Proc Natl Acad Sci U S A. 2016 Aug 9;113(32):E4688-97. doi: 10.1073/pnas.1523597113. Epub 2016 Jul 21. Proc Natl Acad Sci U S A. 2016. PMID: 27444016 Free PMC article.
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