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

Year Number of Results
2002 1
2006 1
2012 1
2013 3
2014 1
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2018 5
2020 1
2021 3
2022 2
2023 1
2024 0

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Page 1
Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization.
Romano LEL, Aw WY, Hixson KM, Novoselova TV, Havener TM, Howell S, Taylor-Blake B, Hall CL, Xing L, Beri J, Nethisinghe S, Perna L, Hatimy A, Altadonna GC, Graves LM, Herring LE, Hickey AJ, Thalassinos K, Chapple JP, Wolter JM. Romano LEL, et al. Among authors: nethisinghe s. Cell Rep. 2022 Nov 1;41(5):111580. doi: 10.1016/j.celrep.2022.111580. Cell Rep. 2022. PMID: 36323248 Free PMC article.
The role of interruptions in polyQ in the pathology of SCA1.
Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW, Davis MB, Pastore A, Giunti P. Menon RP, et al. Among authors: nethisinghe s. PLoS Genet. 2013;9(7):e1003648. doi: 10.1371/journal.pgen.1003648. Epub 2013 Jul 25. PLoS Genet. 2013. PMID: 23935513 Free PMC article.
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P. Nethisinghe S, et al. Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30532692 Free PMC article.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. Stevens JC, et al. Among authors: nethisinghe s. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3. J Neurol Neurosurg Psychiatry. 2013. PMID: 23123642 No abstract available.
19 results