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

Year Number of Results
1947 3
1948 1
1949 2
1951 2
1954 1
1956 1
1957 2
1976 1
1979 1
1984 1
1985 1
1987 1
1988 1
1989 4
1990 2
1991 4
1992 4
1993 2
1995 3
1996 3
1997 2
1998 3
1999 1
2000 6
2001 3
2002 1
2003 3
2004 1
2005 1
2006 7
2007 3
2008 7
2009 6
2010 7
2011 12
2012 11
2013 8
2014 7
2015 6
2016 7
2017 9
2018 7
2019 7
2020 9
2021 5
2022 11
2023 6
2024 7

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189 results

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Sowden JC, Patel A, Dahlmann-Noor A, Cullup T, Jenkins L. Sowden JC, et al. Ophthalmology. 2020 Apr;127(4):e22-e23. doi: 10.1016/j.ophtha.2019.12.020. Ophthalmology. 2020. PMID: 32200847 No abstract available.
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. Among authors: sowden je. 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.
A single-cell transcriptome atlas of the adult human retina.
Lukowski SW, Lo CY, Sharov AA, Nguyen Q, Fang L, Hung SS, Zhu L, Zhang T, Grünert U, Nguyen T, Senabouth A, Jabbari JS, Welby E, Sowden JC, Waugh HS, Mackey A, Pollock G, Lamb TD, Wang PY, Hewitt AW, Gillies MC, Powell JE, Wong RC. Lukowski SW, et al. Among authors: sowden jc. EMBO J. 2019 Sep 16;38(18):e100811. doi: 10.15252/embj.2018100811. Epub 2019 Aug 22. EMBO J. 2019. PMID: 31436334 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.
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.
Genes and pathways in optic fissure closure.
Patel A, Sowden JC. Patel A, et al. Among authors: sowden jc. Semin Cell Dev Biol. 2019 Jul;91:55-65. doi: 10.1016/j.semcdb.2017.10.010. Epub 2017 Dec 6. Semin Cell Dev Biol. 2019. PMID: 29198497 Review.
Restoring Vision Using Stem Cells and Transplantation.
Cuevas E, Parmar P, Sowden JC. Cuevas E, et al. Among authors: sowden jc. Adv Exp Med Biol. 2019;1185:563-567. doi: 10.1007/978-3-030-27378-1_92. Adv Exp Med Biol. 2019. PMID: 31884671 Review.
189 results