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

Year Number of Results
1966 1
1993 1
2003 1
2006 1
2007 1
2009 2
2010 1
2011 5
2012 5
2013 3
2014 4
2015 5
2016 6
2017 3
2018 2
2019 7
2020 9
2021 12
2022 2
2023 4
2024 2

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67 results

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Page 1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: shur n. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: shur ne. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
Sport and exercise medicine in the UK: what lies beyond the crossroads?
Marino KR, Jones N, Small C, Shur N, Chatterjee R, Power J, Wright L, Tillett E, Vishnubala D. Marino KR, et al. Among authors: shur n. Br J Sports Med. 2023 Jul;57(14):891-892. doi: 10.1136/bjsports-2023-107278. Epub 2023 Jun 27. Br J Sports Med. 2023. PMID: 37369555 No abstract available.
Ehlers-Danlos syndrome: what the radiologist needs to know.
George MP, Shur NE, Peréz-Rosselló JM. George MP, et al. Among authors: shur ne. Pediatr Radiol. 2021 May;51(6):1023-1028. doi: 10.1007/s00247-020-04856-1. Epub 2021 May 17. Pediatr Radiol. 2021. PMID: 33999243 Review.
"Exercise as medicine" in chronic kidney disease.
Wilkinson TJ, Shur NF, Smith AC. Wilkinson TJ, et al. Among authors: shur nf. Scand J Med Sci Sports. 2016 Aug;26(8):985-8. doi: 10.1111/sms.12714. Epub 2016 Jun 23. Scand J Med Sci Sports. 2016. PMID: 27334146 Review.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Lasio MLD, et al. Among authors: shur n. Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9. Mol Genet Metab. 2023. PMID: 37207470
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: shur n. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345
67 results