Huebner A - Search Results

1

A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.

Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M. Koehler K, et al. Among authors: huebner a. J Med Genet. 2017 Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5. J Med Genet. 2017. PMID: 27707803

2

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A. Handschug K, et al. Among authors: huebner a. Hum Mol Genet. 2001 Feb 1;10(3):283-90. doi: 10.1093/hmg/10.3.283. Hum Mol Genet. 2001. PMID: 11159947

3

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

Kaindl AM, Rüschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Müller-Höcker J, Nürnberg P, Stoltenburg-Didinger G, Lochmüller H, Huebner A. Kaindl AM, et al. Among authors: huebner a. J Med Genet. 2004 Nov;41(11):842-8. doi: 10.1136/jmg.2004.020271. J Med Genet. 2004. PMID: 15520409 Free PMC article. No abstract available.

4

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Huebner A, Kaindl AM, Knobeloch KP, Petzold H, Mann P, Koehler K. Huebner A, et al. Endocr Res. 2004 Nov;30(4):891-9. doi: 10.1081/erc-200044138. Endocr Res. 2004. PMID: 15666842

5

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: huebner a. 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.

6

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: huebner a. Hum Mutat. 2005 Sep;26(3):279-80. doi: 10.1002/humu.9357. Hum Mutat. 2005. PMID: 16088906

7

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. 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.

8

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Dusek T, Korsic M, Koehler K, Perkovic Z, Huebner A, Korsic M. Dusek T, et al. Among authors: huebner a. Horm Res. 2006;65(4):171-6. doi: 10.1159/000092003. Epub 2006 Mar 15. Horm Res. 2006. PMID: 16543750

9

Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

Krumbholz M, Koehler K, Huebner A. Krumbholz M, et al. Among authors: huebner a. Biochem Cell Biol. 2006 Apr;84(2):243-9. doi: 10.1139/o05-198. Biochem Cell Biol. 2006. PMID: 16609705

10

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Weiss C, Jakubiczka S, Huebner A, Klopocki E, Kress W, Voit T, Hübner C, Schuelke M. Weiss C, et al. Among authors: huebner a. Muscle Nerve. 2007 Mar;35(3):396-401. doi: 10.1002/mus.20705. Muscle Nerve. 2007. PMID: 17143888

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