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

Year Number of Results
1969 1
1971 2
1972 1
1980 3
1982 1
1984 1
1986 1
1987 2
1988 1
1989 1
1990 3
1991 1
1993 1
1994 1
1995 1
1997 1
1998 1
1999 3
2000 2
2001 2
2002 2
2003 4
2005 3
2006 3
2007 4
2008 5
2009 5
2010 1
2011 8
2012 2
2013 2
2014 5
2015 4
2016 1
2017 2
2018 2
2019 3
2020 7
2021 3
2022 5
2023 6
2024 1

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104 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.
Inherited Neuropathies.
Fridman V, Reilly MM. Fridman V, et al. Semin Neurol. 2015 Aug;35(4):407-23. doi: 10.1055/s-0035-1558981. Epub 2015 Oct 6. Semin Neurol. 2015. PMID: 26502764 Review.
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: fridman v. Brain. 2023 Oct 3;146(10):4336-4349. doi: 10.1093/brain/awad187. Brain. 2023. PMID: 37284795 Free PMC article.
Diabetic neuropathy: what does the future hold?
Callaghan BC, Gallagher G, Fridman V, Feldman EL. Callaghan BC, et al. Among authors: fridman v. Diabetologia. 2020 May;63(5):891-897. doi: 10.1007/s00125-020-05085-9. Epub 2020 Jan 23. Diabetologia. 2020. PMID: 31974731 Free PMC article. Review.
Mechanisms and Treatments in Demyelinating CMT.
Fridman V, Saporta MA. Fridman V, et al. Neurotherapeutics. 2021 Oct;18(4):2236-2268. doi: 10.1007/s13311-021-01145-z. Epub 2021 Nov 8. Neurotherapeutics. 2021. PMID: 34750751 Free PMC article. Review.
The spectrum of axonopathies: from CMT2 to HSP.
Fridman V, Murphy SM. Fridman V, et al. Neurology. 2014 Aug 12;83(7):580-1. doi: 10.1212/WNL.0000000000000700. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008393 No abstract available.
Reply to Buonfrate and Bisoffi.
Repetto SA, Ruybal P, Batalla E, López C, Fridman V, Sierra M, Radisic M, Bravo PM, Risso MG, González Cappa SM, Alba Soto CD. Repetto SA, et al. Among authors: fridman v. Clin Infect Dis. 2018 Aug 16;67(5):811-812. doi: 10.1093/cid/ciy178. Clin Infect Dis. 2018. PMID: 29788093 No abstract available.
104 results