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Page 1
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: giunti p. 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.
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: giunti p. PLoS Genet. 2013;9(7):e1003648. doi: 10.1371/journal.pgen.1003648. Epub 2013 Jul 25. PLoS Genet. 2013. PMID: 23935513 Free PMC article.
When the penny drops.
Parkinson MH, Patel R, Davagnanam I, Wood NW, Giunti P. Parkinson MH, et al. Among authors: giunti p. Pract Neurol. 2014 Dec;14(6):409-14. doi: 10.1136/practneurol-2014-000859. Epub 2014 Jun 9. Pract Neurol. 2014. PMID: 24914025 Free PMC article. No abstract available.
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Duncan EJ, Larivière R, Bradshaw TY, Longo F, Sgarioto N, Hayes MJ, Romano LEL, Nethisinghe S, Giunti P, Bruntraeger MB, Durham HD, Brais B, Maltecca F, Gentil BJ, Chapple JP. Duncan EJ, et al. Among authors: giunti p. Hum Mol Genet. 2017 Aug 15;26(16):3130-3143. doi: 10.1093/hmg/ddx197. Hum Mol Genet. 2017. PMID: 28535259 Free PMC article.
Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: giunti p. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
219 results