Huebner A - Search Results

1

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A. Müller JS, et al. Among authors: huebner a. Neurology. 2005 Aug 9;65(3):463-5. doi: 10.1212/01.wnl.0000172346.26219.fd. Neurology. 2005. PMID: 16087917

2

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Schmidt C, Abicht A, Krampfl K, Voss W, Stucka R, Mildner G, Petrova S, Schara U, Mortier W, Bufler J, Huebner A, Lochmüller H. Schmidt C, et al. Among authors: huebner a. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

3

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H. Müller JS, et al. Among authors: huebner a. Neuromuscul Disord. 2004 Nov;14(11):744-9. doi: 10.1016/j.nmd.2004.06.010. Neuromuscul Disord. 2004. PMID: 15482960

4

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A. Müller JS, et al. Among authors: huebner a. Brain. 2006 Oct;129(Pt 10):2784-93. doi: 10.1093/brain/awl188. Epub 2006 Aug 17. Brain. 2006. PMID: 16916845

5

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H. Müller JS, et al. Among authors: huebner a. Brain. 2007 Jun;130(Pt 6):1497-506. doi: 10.1093/brain/awm068. Epub 2007 Apr 17. Brain. 2007. PMID: 17439981

6

Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.

Mihaylova V, Salih MA, Mukhtar MM, Abuzeid HA, El-Sadig SM, von der Hagen M, Huebner A, Nürnberg G, Abicht A, Müller JS, Lochmüller H, Guergueltcheva V. Mihaylova V, et al. Among authors: huebner a. Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9. Neurology. 2009. PMID: 19949040 No abstract available.

7

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil.

Mihaylova V, Scola RH, Gervini B, Lorenzoni PJ, Kay CK, Werneck LC, Stucka R, Guergueltcheva V, von der Hagen M, Huebner A, Abicht A, Müller JS, Lochmüller H. Mihaylova V, et al. Among authors: huebner a. J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):973-7. doi: 10.1136/jnnp.2009.177816. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2010. PMID: 20562457 Free article.

8

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A. Müller JS, et al. Among authors: huebner a. Neurology. 2003 Jun 10;60(11):1805-10. doi: 10.1212/01.wnl.0000072262.14931.80. Neurology. 2003. PMID: 12796535

9

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner A, Lochmüller H, Abicht A. Müller JS, et al. Among authors: huebner a. Neuropediatrics. 2004 Jun;35(3):183-9. doi: 10.1055/s-2004-820996. Neuropediatrics. 2004. PMID: 15248101

10

Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.

Abicht A, Dusl M, Gallenmüller C, Guergueltcheva V, Schara U, Della Marina A, Wibbeler E, Almaras S, Mihaylova V, von der Hagen M, Huebner A, Chaouch A, Müller JS, Lochmüller H. Abicht A, et al. Among authors: huebner a. Hum Mutat. 2012 Oct;33(10):1474-84. doi: 10.1002/humu.22130. Epub 2012 Jun 27. Hum Mutat. 2012. PMID: 22678886

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