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

Year Number of Results
2005 1
2007 1
2011 1
2012 5
2013 6
2014 5
2015 7
2016 5
2017 3
2018 3
2019 4
2020 7
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42 results
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Page 1
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.
Simone R, Balendra R, Moens TG, Preza E, Wilson KM, Heslegrave A, Woodling NS, Niccoli T, Gilbert-Jaramillo J, Abdelkarim S, Clayton EL, Clarke M, Konrad MT, Nicoll AJ, Mitchell JS, Calvo A, Chio A, Houlden H, Polke JM, Ismail MA, Stephens CE, Vo T, Farahat AA, Wilson WD, Boykin DW, Zetterberg H, Partridge L, Wray S, Parkinson G, Neidle S, Patani R, Fratta P, Isaacs AM. Simone R, et al. Among authors: polke jm. EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. EMBO Mol Med. 2018. PMID: 29113975 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. Among authors: polke jm. 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.
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM. Horga A, et al. Among authors: polke jm. Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr. Neurol Genet. 2019. PMID: 31119193 Free PMC article.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Horga A, Woodward CE, Mills A, Pareés I, Hargreaves IP, Brown RM, Bugiardini E, Brooks T, Manole A, Remzova E, Rahman S, Reilly MM, Houlden H, Sweeney MG, Brown GK, Polke JM, Gago F, Parton MJ, Pitceathly RDS, Hanna MG. Horga A, et al. Among authors: polke jm. Hum Genet. 2019 Dec;138(11-12):1313-1322. doi: 10.1007/s00439-019-02075-9. Epub 2019 Oct 31. Hum Genet. 2019. PMID: 31673819 Free PMC article.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. Among authors: polke jm. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. Kugathasan U, et al. Among authors: polke jm. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17. J Neurol Neurosurg Psychiatry. 2019. PMID: 30995999
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese A, Wilcox JE, Polke JM, Poh R, Skorupinska M, Rossor AM, Laura M, Tomaselli PJ, Houlden H, Shy ME, Reilly MM. Cortese A, et al. Among authors: polke jm. Neurology. 2020 Jan 7;94(1):e51-e61. doi: 10.1212/WNL.0000000000008672. Epub 2019 Dec 11. Neurology. 2020. PMID: 31827005 Free PMC article.
Severe cognitive impairment in a patient with CMT2A.
Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM. Tomaselli PJ, et al. Among authors: polke jm. J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26. J Peripher Nerv Syst. 2018. PMID: 29520876 No abstract available.
Clinical implications of genetic advances in Charcot-Marie-Tooth disease.
Rossor AM, Polke JM, Houlden H, Reilly MM. Rossor AM, et al. Among authors: polke jm. Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10. Nat Rev Neurol. 2013. PMID: 24018473 Review.
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counselling.
Tomaselli PJ, Rossor AM, Polke JM, Poh R, Blake J, Reilly MM. Tomaselli PJ, et al. Among authors: polke jm. J Peripher Nerv Syst. 2016 Mar;21(1):52-4. doi: 10.1111/jns.12155. J Peripher Nerv Syst. 2016. PMID: 26930221 No abstract available.
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