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Showing results for katrin koehler
Search for Katrina Koehler instead (1 results)
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS. Smits DJ, et al. Among authors: koehler k. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
Organ-specific Neurodegeneration in Triple A syndrome-related Achalasia.
Zimmer V, Vanderwinden JM, Zimmer A, Ostertag D, Strittmatter M, Koehler K, Huebner A, Lammert F. Zimmer V, et al. Among authors: koehler k. Am J Med. 2015 Sep;128(9):e9-12. doi: 10.1016/j.amjmed.2015.04.025. Epub 2015 May 23. Am J Med. 2015. PMID: 26007668 No abstract available.
Triple A syndrome mimicking ALS.
Strauss M, Koehler K, Krumbholz M, Huebner A, Zierz S, Deschauer M. Strauss M, et al. Among authors: koehler k. Amyotroph Lateral Scler. 2008 Oct;9(5):315-7. doi: 10.1080/17482960802259016. Amyotroph Lateral Scler. 2008. PMID: 18615337
Compensation for chronic oxidative stress in ALADIN null mice.
Jühlen R, Peitzsch M, Gärtner S, Landgraf D, Eisenhofer G, Huebner A, Koehler K. Jühlen R, et al. Among authors: koehler k. Biol Open. 2018 Jan 23;7(1):bio030742. doi: 10.1242/bio.030742. Biol Open. 2018. PMID: 29362278 Free PMC article.
Fertility and sexual activity in patients with Triple A syndrome.
Dumic KK, Heinrichs C, Koehler K, Huebner A, Dumic M, Kusec V, Dusek T, Quitter F. Dumic KK, et al. Among authors: koehler k. Front Endocrinol (Lausanne). 2024 Mar 13;15:1357084. doi: 10.3389/fendo.2024.1357084. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38544685 Free PMC article.
ALADIN is required for the production of fertile mouse oocytes.
Carvalhal S, Stevense M, Koehler K, Naumann R, Huebner A, Jessberger R, Griffis ER. Carvalhal S, et al. Among authors: koehler k. Mol Biol Cell. 2017 Sep 15;28(19):2470-2478. doi: 10.1091/mbc.E16-03-0158. Epub 2017 Aug 2. Mol Biol Cell. 2017. PMID: 28768824 Free PMC article.
46 results