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

Year Number of Results
2007 1
2009 2
2010 1
2012 2
2013 3
2015 1
2016 1
2017 2
2018 3
2020 2
2021 1
2022 2
2023 3
2024 1

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19 results

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Page 1
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: tomlinson se. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: tomlinson se. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
Acute neurology.
Tomlinson SE, Hanna MG. Tomlinson SE, et al. Clin Med (Lond). 2007 Jun;7(3):272-7. doi: 10.7861/clinmedicine.7-3-272. Clin Med (Lond). 2007. PMID: 17633950 Free PMC article. Review. No abstract available.
Mouth Care in Assisted Living: Potential Areas for Improvement.
Kistler CE, Scott J, Ward K, Zeigler R, Sullivan L, Tomlinson SE, Wretman CJ, Zimmerman S. Kistler CE, et al. Among authors: tomlinson se. J Am Med Dir Assoc. 2021 Jun;22(6):1190-1193.e2. doi: 10.1016/j.jamda.2020.11.038. Epub 2020 Dec 29. J Am Med Dir Assoc. 2021. PMID: 33385333 Free PMC article.
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
Kumar KR, Cortese A, Tomlinson SE, Efthymiou S, Ellis M, Zhu D, Stoll M, Dominik N, Tisch S, Tchan M, Wu KHC, Devery S, Spring PJ, Hawke S, Cremer P, Ng K, Reilly MM, Nicholson GA, Houlden H, Kennerson M. Kumar KR, et al. Among authors: tomlinson se. Brain. 2020 Oct 1;143(10):e82. doi: 10.1093/brain/awaa244. Brain. 2020. PMID: 32949124 Free PMC article. No abstract available.
Re: HCN channels: function and clinical implications.
Burke D, Howells J, Tomlinson SE. Burke D, et al. Among authors: tomlinson se. Neurology. 2013 Jul 30;81(5):513-4. doi: 10.1212/01.wnl.0000433163.22224.2c. Neurology. 2013. PMID: 23897879 No abstract available.
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Grosz BR, Tisch S, Tchan MC, Fung VSC, Darveniza P, Fellner A, Kurian MA, McLean A, Tomlinson SE, Smyth R, Devery S, Wu KHC, Kennerson ML, Kumar KR. Grosz BR, et al. Among authors: tomlinson se. Mol Genet Genomic Med. 2022 May;10(5):e1923. doi: 10.1002/mgg3.1923. Epub 2022 Mar 16. Mol Genet Genomic Med. 2022. PMID: 35293157 Free PMC article.
19 results