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

Year Number of Results
2015 1
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2018 5
2019 4
2020 7
2021 6
2022 5
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32 results
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Page 1
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: tomaselli pj. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: tomaselli pj. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Brain Structural Signature of RFC1-Related Disorder.
Matos PCAAP, Rezende TJR, Schmitt GS, Bonadia LC, Reis F, Martinez ARM, de Lima FD, Bueno MGA, Tomaselli PJ, Cendes F, Pedroso JL, Barsottini OGP, Marques W Jr, França M Jr. Matos PCAAP, et al. Among authors: tomaselli pj. Mov Disord. 2021 Nov;36(11):2634-2641. doi: 10.1002/mds.28711. Epub 2021 Jul 9. Mov Disord. 2021. PMID: 34241918
Use of Twitter in Neurology: Boon or Bane?
Mishra B, Saini M, Doherty CM, Pitceathly RDS, Rajan R, Siddiqi OK, Ramdharry G, Asranna A, Tomaselli PJ, Kermode AG, Bajwa JA, Garg D, Vishnu VY. Mishra B, et al. Among authors: tomaselli pj. J Med Internet Res. 2021 May 14;23(5):e25229. doi: 10.2196/25229. J Med Internet Res. 2021. PMID: 33988522 Free PMC article. Review.
Recent advances in the genetic neuropathies.
Rossor AM, Tomaselli PJ, Reilly MM. Rossor AM, et al. Among authors: tomaselli pj. Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373. Curr Opin Neurol. 2016. PMID: 27584852 Free PMC article. Review.
Huntington's disease-like 2: a phenocopy not to miss.
De Oliveira DS, Santos DP, Araujo DO, Tomaselli PJ, Júnior WM, Vale TC. De Oliveira DS, et al. Among authors: tomaselli pj. Pract Neurol. 2020 Dec;20(6):479-481. doi: 10.1136/practneurol-2020-002590. Epub 2020 Sep 29. Pract Neurol. 2020. PMID: 32994366
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Among authors: tomaselli pj. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.
Acute Inflammatory Painful Polyradiculoneuritis: An Uncommon Presentation Related to COVID-19.
Dias FA, Cunha ALN, Pantoja PMP, Moreira CL, Tomaselli PJ, Zanon Zotin MC, Colleto FA, Cabette Fabio SR, Pontes-Neto OM, Marques Júnior W. Dias FA, et al. Among authors: tomaselli pj. Neurol Clin Pract. 2021 Apr;11(2):e205-e207. doi: 10.1212/CPJ.0000000000000910. Neurol Clin Pract. 2021. PMID: 33842095 Free PMC article. No abstract available.
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. Tomaselli PJ, et al. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29. Neuromuscul Disord. 2018. PMID: 30385095 Free PMC article.
32 results