Koehler K - Search Results

1

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.

2

Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome.

Huebner A, Mann P, Rohde E, Kaindl AM, Witt M, Verkade P, Jakubiczka S, Menschikowski M, Stoltenburg-Didinger G, Koehler K. Huebner A, et al. Among authors: koehler k. Mol Cell Biol. 2006 Mar;26(5):1879-87. doi: 10.1128/MCB.26.5.1879-1887.2006. Mol Cell Biol. 2006. PMID: 16479006 Free PMC article.

3

Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of 17 independent patients with the frequent p.Ser263Pro mutation.

Milenković T, Koehler K, Krumbholz M, Zivanović S, Zdravković D, Huebner A. Milenković T, et al. Among authors: koehler k. Eur J Pediatr. 2008 Sep;167(9):1049-55. doi: 10.1007/s00431-007-0640-7. Epub 2008 Jan 3. Eur J Pediatr. 2008. PMID: 18172684

4

Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.

Toromanovic A, Tahirovic H, Milenkovic T, Koehler K, Kind B, Zdravkovic D, Hasanhodzic M, Huebner A. Toromanovic A, et al. Among authors: koehler k. Eur J Pediatr. 2009 Mar;168(3):317-20. doi: 10.1007/s00431-008-0758-2. Epub 2008 Jun 13. Eur J Pediatr. 2009. PMID: 18551317

5

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

6

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A. Koehler K, et al. Eur J Hum Genet. 2008 Dec;16(12):1499-506. doi: 10.1038/ejhg.2008.132. Epub 2008 Jul 16. Eur J Hum Genet. 2008. PMID: 18628786

7

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.

Kind B, Koehler K, Lorenz M, Huebner A. Kind B, et al. Among authors: koehler k. Biochem Biophys Res Commun. 2009 Dec 11;390(2):205-10. doi: 10.1016/j.bbrc.2009.09.080. Epub 2009 Sep 24. Biochem Biophys Res Commun. 2009. PMID: 19782045

8

Triple A syndrome: 32 years experience of a single centre (1977-2008).

Milenkovic T, Zdravkovic D, Savic N, Todorovic S, Mitrovic K, Koehler K, Huebner A. Milenkovic T, et al. Among authors: koehler k. Eur J Pediatr. 2010 Nov;169(11):1323-8. doi: 10.1007/s00431-010-1222-7. Epub 2010 May 25. Eur J Pediatr. 2010. PMID: 20499090

9

Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.

Kind B, Koehler K, Krumbholz M, Landgraf D, Huebner A. Kind B, et al. Among authors: koehler k. J Mol Med (Berl). 2010 Dec;88(12):1233-42. doi: 10.1007/s00109-010-0661-y. Epub 2010 Aug 13. J Mol Med (Berl). 2010. PMID: 20706703

10

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Dumić M, Barišić N, Rojnić-Putarek N, Kušec V, Stanimirović A, Koehler K, Huebner A. Dumić M, et al. Among authors: koehler k. Eur J Pediatr. 2011 Mar;170(3):393-6. doi: 10.1007/s00431-010-1314-4. Epub 2010 Oct 8. Eur J Pediatr. 2011. PMID: 20931227

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