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

Year Number of Results
2003 1
2004 2
2006 3
2007 3
2008 2
2009 3
2010 3
2011 7
2012 8
2013 8
2014 7
2015 2
2016 2
2017 2
2018 1
2019 3
2020 15
2021 11
2022 4
2023 7
2024 1

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83 results

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Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
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. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323. Brain. 2020. PMID: 33415332 Free PMC article.
Management of Pulmonary Arterial Hypertension.
Mayeux JD, Pan IZ, Dechand J, Jacobs JA, Jones TL, McKellar SH, Beck E, Hatton ND, Ryan JJ. Mayeux JD, et al. Among authors: jones tl. Curr Cardiovasc Risk Rep. 2021;15(1):2. doi: 10.1007/s12170-020-00663-3. Epub 2020 Nov 18. Curr Cardiovasc Risk Rep. 2021. PMID: 33224405 Free PMC article. Review.
Association of Metformin With the Development of Age-Related Macular Degeneration.
Domalpally A, Whittier SA, Pan Q, Dabelea DM, Darwin CH, Knowler WC, Lee CG, Luchsinger JA, White NH, Chew EY; Diabetes Prevention Program Research (DPPOS) Group. Domalpally A, et al. JAMA Ophthalmol. 2023 Feb 1;141(2):140-147. doi: 10.1001/jamaophthalmol.2022.5567. JAMA Ophthalmol. 2023. PMID: 36547967 Free PMC article.
Cardiac Catheterization Laboratory Sustainability: What it Is and Why it Matters.
Alasnag M, Ahmed B, Jones T, Ibebuogu U, Price A, Spencer D, Welt F, Batchelor W. Alasnag M, et al. Among authors: jones t. JACC Cardiovasc Interv. 2023 Aug 28;16(16):2034-2039. doi: 10.1016/j.jcin.2023.06.004. Epub 2023 Jul 19. JACC Cardiovasc Interv. 2023. PMID: 37480890 Review. No abstract available.
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. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Perivalvular Abscess Causing Coronary-Artery Compression.
Varela DL, Jones TL. Varela DL, et al. Among authors: jones tl. N Engl J Med. 2021 Jul 1;385(1):e3. doi: 10.1056/NEJMicm2029179. Epub 2021 Jun 26. N Engl J Med. 2021. PMID: 34192425 No abstract available.
83 results