Abicht A - Search Results

1

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

O'Connor E, Töpf A, Müller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmüller H. O'Connor E, et al. Among authors: abicht a. Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3. Brain. 2016. PMID: 27259756 Free PMC article.

2

Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.

Abicht A, Müller-Felber W, Fischer P, Jakob I, Kürz L, Rudel R, Mortier W, Pongratz D, Lochmüller H. Abicht A, et al. Eur J Med Res. 1997 Dec 31;2(12):515-22. Eur J Med Res. 1997. PMID: 9498929

3

Localization of transforming growth factor beta in association with neuromuscular junctions in adult human muscle.

Toepfer M, Fischer P, Abicht A, Lochmüller H, Pongratz D, Müller-Felber W. Toepfer M, et al. Among authors: abicht a. Cell Mol Neurobiol. 1999 Apr;19(2):297-300. doi: 10.1023/a:1006989530148. Cell Mol Neurobiol. 1999. PMID: 10081612

4

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H. Abicht A, et al. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

5

Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS.

Horváth R, Abicht A, Shoubridge EA, Karcagi V, Rózsa C, Komoly S, Lochmüller H. Horváth R, et al. Among authors: abicht a. J Neurol. 2000 Jan;247(1):65-7. doi: 10.1007/s004150050015. J Neurol. 2000. PMID: 10701903 Review. No abstract available.

6

A modified alignment of human and rodent 5' untranslated sequences of the acetylcholine receptor epsilon subunit gene reveals additional regions of high homology.

Stucka R, Abicht A, Song IH, Bönsch D, Deufel T, Lochmüller H. Stucka R, et al. Among authors: abicht a. Neuromuscul Disord. 2000 Mar;10(3):213-4. doi: 10.1016/s0960-8966(99)00112-1. Neuromuscul Disord. 2000. PMID: 10841620 No abstract available.

7

Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc.

Abicht A, Lochmüller H. Abicht A, et al. Curr Opin Mol Ther. 1999 Oct;1(5):645-50. Curr Opin Mol Ther. 1999. PMID: 11249671 Review.

8

Technology evaluation: edrecolomab, Centocor Inc.

Abicht A, Lochmüller H. Abicht A, et al. Curr Opin Mol Ther. 2000 Oct;2(5):593-600. Curr Opin Mol Ther. 2000. PMID: 11249762 Review.

9

Deactivation and desensitization of mouse embryonic- and adult-type nicotinic receptor channel currents.

Jahn K, Mohammadi B, Krampfl K, Abicht A, Lochmüller H, Bufler J. Jahn K, et al. Among authors: abicht a. Neurosci Lett. 2001 Jul 13;307(2):89-92. doi: 10.1016/s0304-3940(01)01929-2. Neurosci Lett. 2001. PMID: 11427307

10

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song IH, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H. Abicht A, et al. Brain. 2002 May;125(Pt 5):1005-13. doi: 10.1093/brain/awf095. Brain. 2002. PMID: 11960891

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