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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 19
2023 14
2024 6

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268 results

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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.
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders.
Münch J, Prasuhn J, Laugwitz L, Fung CW, Chung BH, Bellusci M, Mayatepek E, Klee D, Distelmaier F. Münch J, et al. Among authors: mayatepek e. Antioxidants (Basel). 2023 Mar 14;12(3):718. doi: 10.3390/antiox12030718. Antioxidants (Basel). 2023. PMID: 36978966 Free PMC article. Review.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L, Huetzen MA, Moreno-Andrés D, Kalb R, McKee S, Hsieh TC, Seibt A, Schouwink M, Lalani S, Faqeih EA, Brunet T, Boor P, Neveling K, Hoischen A, Hildebrandt B, Graf E, Lu L, Jin W, Schaper J, Omer JA, Demaret T, Fleischer N, Schindler D, Krawitz P, Mayatepek E, Wieczorek D, Wang LL, Antonin W, Jachimowicz RD, von Felbert V, Distelmaier F. Averdunk L, et al. Among authors: mayatepek e. Genet Med. 2023 Jul;25(7):100836. doi: 10.1016/j.gim.2023.100836. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013901 Free article.
IL-1RA Antibodies in Myocarditis after SARS-CoV-2 Vaccination.
Thurner L, Kessel C, Fadle N, Regitz E, Seidel F, Kindermann I, Lohse S, Kos I, Tschöpe C, Kheiroddin P, Kiblboeck D, Hoffmann MC, Bette B, Carbon G, Cetin O, Preuss KD, Christofyllakis K, Bittenbring JT, Pickardt T, Fischer Y, Thiele H, Baldus S, Stangl K, Steiner S, Gietzen F, Kerber S, Deneke T, Jellinghaus S, Linke A, Ibrahim K, Grabmaier U, Massberg S, Thilo C, Greulich S, Gawaz M, Mayatepek E, Meyer-Dobkowitz L, Kindermann M, Birk E, Birk M, Lainscak M, Foell D, Lepper PM, Bals R, Krawczyk M, Mevorach D, Hasin T, Keren A, Kabesch M, Abdul-Khaliq H, Smola S, Bewarder M, Thurner B, Böhm M, Pfeifer J, Klingel K. Thurner L, et al. Among authors: mayatepek e. N Engl J Med. 2022 Oct 20;387(16):1524-1527. doi: 10.1056/NEJMc2205667. Epub 2022 Sep 21. N Engl J Med. 2022. PMID: 36130012 Free PMC article. No abstract available.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F. Reijnders MRF, et al. Among authors: mayatepek e. Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11. Genet Med. 2023. PMID: 37057673 Free 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.
Update on mitochondrial fatty acid oxidation disorders.
Spiekerkoetter U, Mayatepek E. Spiekerkoetter U, et al. Among authors: mayatepek e. J Inherit Metab Dis. 2010 Oct;33(5):467-8. doi: 10.1007/s10545-010-9208-1. J Inherit Metab Dis. 2010. PMID: 20842433 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.
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.
268 results