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51 results

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Page 1
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.
Identification of distinct circulating exosomes in Parkinson's disease.
Tomlinson PR, Zheng Y, Fischer R, Heidasch R, Gardiner C, Evetts S, Hu M, Wade-Martins R, Turner MR, Morris J, Talbot K, Kessler BM, Tofaris GK. Tomlinson PR, et al. Among authors: tofaris gk. Ann Clin Transl Neurol. 2015 Apr;2(4):353-61. doi: 10.1002/acn3.175. Epub 2015 Feb 6. Ann Clin Transl Neurol. 2015. PMID: 25909081 Free PMC article.
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.
Serum neuronal exosomes predict and differentiate Parkinson's disease from atypical parkinsonism.
Jiang C, Hopfner F, Katsikoudi A, Hein R, Catli C, Evetts S, Huang Y, Wang H, Ryder JW, Kuhlenbaeumer G, Deuschl G, Padovani A, Berg D, Borroni B, Hu MT, Davis JJ, Tofaris GK. Jiang C, et al. Among authors: tofaris gk. J Neurol Neurosurg Psychiatry. 2020 Jul;91(7):720-729. doi: 10.1136/jnnp-2019-322588. Epub 2020 Apr 9. J Neurol Neurosurg Psychiatry. 2020. PMID: 32273329 Free PMC article.
Outcome Measures for Disease-Modifying Trials in Parkinson's Disease: Consensus Paper by the EJS ACT-PD Multi-Arm Multi-Stage Trial Initiative.
Gonzalez-Robles C, Weil RS, van Wamelen D, Bartlett M, Burnell M, Clarke CS, Hu MT, Huxford B, Jha A, Lambert C, Lawton M, Mills G, Noyce A, Piccini P, Pushparatnam K, Rochester L, Siu C, Williams-Gray CH, Zeissler ML, Zetterberg H, Carroll CB, Foltynie T, Schrag A; EJS ACT-PD Consortium. Gonzalez-Robles C, et al. J Parkinsons Dis. 2023;13(6):1011-1033. doi: 10.3233/JPD-230051. J Parkinsons Dis. 2023. PMID: 37545260 Free PMC article. Clinical Trial.
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