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

Year Number of Results
2002 14
2003 13
2004 9
2005 13
2006 14
2007 10
2008 16
2009 15
2010 14
2011 12
2012 12
2013 12
2014 8
2015 20
2016 16
2017 18
2018 14
2019 15
2020 13
2021 15
2022 2
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Search Results

235 results
Results by year
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Page 1
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. Among authors: mayatepek e. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A. Inak G, et al. Among authors: mayatepek e. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z. Nat Commun. 2021. PMID: 33771987 Free PMC article.
Aspects of Newborn Screening in Isovaleric Acidemia.
Schlune A, Riederer A, Mayatepek E, Ensenauer R. Schlune A, et al. Among authors: mayatepek e. Int J Neonatal Screen. 2018 Jan 29;4(1):7. doi: 10.3390/ijns4010007. eCollection 2018 Mar. Int J Neonatal Screen. 2018. PMID: 33072933 Free PMC article. Review.
MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech M, Seibt A, Zumbaum B, Klee D, Meitinger T, Winkelmann J, Mayatepek E, Wagner M, Distelmaier F. Zech M, et al. Among authors: mayatepek e. Brain. 2021 Oct 22;144(9):e72. doi: 10.1093/brain/awab240. Brain. 2021. PMID: 34173818 No abstract available.
The many faces of paediatric mitochondrial disease on neuroimaging.
Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F. Baertling F, et al. Among authors: mayatepek e. Childs Nerv Syst. 2016 Nov;32(11):2077-2083. doi: 10.1007/s00381-016-3190-3. Epub 2016 Jul 23. Childs Nerv Syst. 2016. PMID: 27449766 Review.
Severe ichthyosis in MPDU1-CDG.
Thiel C, Wortmann S, Riedhammer K, Alhaddad B, Mayatepek E, Prokisch H, Distelmaier F. Thiel C, et al. Among authors: mayatepek e. J Inherit Metab Dis. 2018 Nov;41(6):1293-1294. doi: 10.1007/s10545-018-0189-9. Epub 2018 May 2. J Inherit Metab Dis. 2018. PMID: 29721919
Rare forms of congenital hyperinsulinism.
Marquard J, Palladino AA, Stanley CA, Mayatepek E, Meissner T. Marquard J, et al. Among authors: mayatepek e. Semin Pediatr Surg. 2011 Feb;20(1):38-44. doi: 10.1053/j.sempedsurg.2010.10.006. Semin Pediatr Surg. 2011. PMID: 21186003 Review.
Inborn errors of carbohydrate metabolism.
Mayatepek E, Hoffmann B, Meissner T. Mayatepek E, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):607-18. doi: 10.1016/j.bpg.2010.07.012. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955963 Review.
Fabry disease-often seen, rarely diagnosed.
Hoffmann B, Mayatepek E. Hoffmann B, et al. Among authors: mayatepek e. Dtsch Arztebl Int. 2009 Jun;106(26):440-7. doi: 10.3238/arztebl.2009.0440. Epub 2009 Jun 26. Dtsch Arztebl Int. 2009. PMID: 19623315 Free PMC article. Review.
235 results