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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 10
2021 10
2022 4
2023 6
2024 2

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61 results

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Page 1
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Pipis M, et al. Among authors: polke jm. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium—Rare Disease Clinical Research Network. Record CJ, et al. Among authors: polke jm. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
Macken WL, Falabella M, Pizzamiglio C, Woodward CE, Scotchman E, Chitty LS, Polke JM, Bugiardini E, Hanna MG, Vandrovcova J, Chandler N, Labrum R, Pitceathly RDS. Macken WL, et al. Among authors: polke jm. Expert Rev Mol Diagn. 2023 Jul-Dec;23(9):797-814. doi: 10.1080/14737159.2023.2241365. Epub 2023 Aug 29. Expert Rev Mol Diagn. 2023. PMID: 37642407 Review.
Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.
Setó-Salvia N, Esteras N, de Silva R, de Pablo-Fernandez E, Arber C, Toomey CE, Polke JM, Morris HR, Rohrer JD, Abramov AY, Patani R, Wray S, Warner TT. Setó-Salvia N, et al. Among authors: polke jm. J Cell Mol Med. 2022 Feb;26(4):1327-1331. doi: 10.1111/jcmm.17136. Epub 2021 Dec 24. J Cell Mol Med. 2022. PMID: 34951131 Free PMC article.
Plasma GFAP in presymptomatic and symptomatic familial Alzheimer's disease: a longitudinal cohort study.
O'Connor A, Abel E, Benedet AL, Poole T, Ashton N, Weston PSJ, Heslegrave AJ, Ryan N, Barker S, Polke JM, Blennow K, Zetterberg H, Fox NC. O'Connor A, et al. Among authors: polke jm. J Neurol Neurosurg Psychiatry. 2023 Jan;94(1):90-92. doi: 10.1136/jnnp-2022-329663. Epub 2022 Aug 10. J Neurol Neurosurg Psychiatry. 2023. PMID: 35948396 Free PMC article. No abstract available.
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: polke jm. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
61 results