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

Year Number of Results
2002 2
2003 4
2004 1
2005 4
2006 4
2007 14
2008 5
2009 6
2010 6
2011 16
2012 17
2013 13
2014 10
2015 16
2016 14
2017 21
2018 31
2019 25
2020 17
2021 21
2022 14
2023 10
2024 13
2025 10
2026 9

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264 results

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Page 1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Among authors: thiel ct. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: thiel c. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,; Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),; Bamshad MJ. Mirzaa GM, et al. Among authors: thiel ct. Genet Med. 2020 Mar;22(3):538-546. doi: 10.1038/s41436-019-0693-9. Epub 2019 Nov 14. Genet Med. 2020. PMID: 31723249 Free PMC article.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: thiel c. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Christian Körner.
Thiel C. Thiel C. J Inherit Metab Dis. 2015 May;38(3):589. doi: 10.1007/s10545-015-9835-7. J Inherit Metab Dis. 2015. PMID: 25778943 No abstract available.
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Jáñez Pedrayes A, De Craemer S, Idkowiak J, Verdegem D, Thiel C, Barone R, Serrano M, Honzík T, Morava E, Vermeersch P, Foulquier F, Morelle W, Swinnen JV, Rymen D, Cassiman D, Ghesquière B, Witters P. Jáñez Pedrayes A, et al. Among authors: thiel c. Cell Mol Life Sci. 2025 Jun 27;82(1):257. doi: 10.1007/s00018-025-05759-w. Cell Mol Life Sci. 2025. PMID: 40576648 Free PMC article.
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.
Bögershausen N, Cavdarli B, Nagai TH, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: thiel c. JCI Insight. 2025 Mar 25;10(9):e173484. doi: 10.1172/jci.insight.173484. eCollection 2025 May 8. JCI Insight. 2025. PMID: 40131364 Free PMC article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: thiel c. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
Evolution of 1500-m Olympic Running Performance.
Foster C, Hanley B, Barroso R, Boullosa D, Casado A, Haugen T, Hettinga FJ, Jones AM, Renfree A, Skiba P, St Clair Gibson A, Thiel C, de Koning JJ. Foster C, et al. Among authors: thiel c. Int J Sports Physiol Perform. 2023 Oct 31;19(1):62-70. doi: 10.1123/ijspp.2023-0289. Print 2024 Jan 1. Int J Sports Physiol Perform. 2023. PMID: 37922897
R405W Desmin Knock-In Mice Highlight Alterations of Mitochondria, Protein Quality Control and Myofibrils in Myofibrillar Myopathy.
Batonnet-Pichon S, Delort F, Lilienbaum A, Berwanger C, Schultheis D, Schlötzer-Schrehardt U, Schmidt A, Uebe S, Baiche Y, Eisenack TJ, Trentini DB, Mallek M, Mill L, Ferreiro A, Eberhard B, Lücke T, Krüger M, Thiel C, Schröder R, Clemen CS. Batonnet-Pichon S, et al. Among authors: thiel c. J Cachexia Sarcopenia Muscle. 2025 Dec;16(6):e70094. doi: 10.1002/jcsm.70094. J Cachexia Sarcopenia Muscle. 2025. PMID: 41165044 Free PMC article.
264 results