Köehler K - Search Results

1

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.

Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K. Hicks D, et al. Among authors: koehler k. Brain. 2011 Jan;134(Pt 1):171-182. doi: 10.1093/brain/awq294. Brain. 2011. PMID: 21186264 Free PMC article.

2

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

Vorgerd M, van der Ven PF, Bruchertseifer V, Löwe T, Kley RA, Schröder R, Lochmüller H, Himmel M, Koehler K, Fürst DO, Huebner A. Vorgerd M, et al. Among authors: koehler k. Am J Hum Genet. 2005 Aug;77(2):297-304. doi: 10.1086/431959. Epub 2005 May 31. Am J Hum Genet. 2005. PMID: 15929027 Free PMC article.

3

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures.

Kaindl AM, Jakubiczka S, Lücke T, Bartsch O, Weis J, Stoltenburg-Didinger G, Aksu F, Oexle K, Koehler K, Huebner A. Kaindl AM, et al. Among authors: koehler k. Hum Mutat. 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357. Hum Mutat. 2005. PMID: 16088906

4

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

5

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

6

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

7

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

8

New ophthalmic features in a family with triple A syndrome.

Moschos MM, Margetis I, Koehler K, Gatzioufas Z, Huebner A. Moschos MM, et al. Among authors: koehler k. Int Ophthalmol. 2011 Jun;31(3):239-43. doi: 10.1007/s10792-011-9450-z. Epub 2011 May 28. Int Ophthalmol. 2011. PMID: 21626165

9

Identification of a novel putative interaction partner of the nucleoporin ALADIN.

Jühlen R, Landgraf D, Huebner A, Koehler K. Jühlen R, et al. Among authors: koehler k. Biol Open. 2016 Nov 15;5(11):1697-1705. doi: 10.1242/bio.021162. Biol Open. 2016. PMID: 27754849 Free PMC article.

10

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

Tibussek D, Ghosh S, Huebner A, Schaper J, Mayatepek E, Koehler K. Tibussek D, et al. Among authors: koehler k. BMC Pediatr. 2018 Jan 15;18(1):6. doi: 10.1186/s12887-017-0973-y. BMC Pediatr. 2018. PMID: 29334914 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

626 results

Search Page

Filters