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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 1
2003 1
2005 1
2006 2
2007 3
2008 1
2010 1
2011 1
2012 2
2013 2
2014 2
2015 4
2016 4
2017 3
2018 2
2019 2
2020 2
2021 3
2022 4
2023 8
2024 2

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Page 1
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M. Vezyroglou A, et al. Among authors: tofaris gk. Neurology. 2022 Oct 4;99(14):e1511-e1526. doi: 10.1212/WNL.0000000000200927. Epub 2022 Jul 18. Neurology. 2022. PMID: 36192182 Free PMC article. Review.
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.
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.
How is alpha-synuclein cleared from the cell?
Stefanis L, Emmanouilidou E, Pantazopoulou M, Kirik D, Vekrellis K, Tofaris GK. Stefanis L, et al. Among authors: tofaris gk. J Neurochem. 2019 Sep;150(5):577-590. doi: 10.1111/jnc.14704. Epub 2019 May 8. J Neurochem. 2019. PMID: 31069800 Free article. Review.
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: tofaris gk. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free 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.
50 results