Abicht A - Search Results

1

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: abicht a. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507

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

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.

7

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.

8

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

9

What's in the serum of seronegative MG and LEMS?: MuSK et al.

Abicht A, Lochmüller H. Abicht A, et al. Neurology. 2002 Dec 10;59(11):1672-3. doi: 10.1212/01.wnl.0000041026.90947.79. Neurology. 2002. PMID: 12473750 No abstract available.

10

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.

Barisic N, Schmidt C, Sidorova OP, Herczegfalvi A, Gekht BM, Song IH, Stucka R, Karcagi V, Abicht A, Lochmüller H. Barisic N, et al. Among authors: abicht a. Neuropediatrics. 2002 Oct;33(5):249-54. doi: 10.1055/s-2002-36738. Neuropediatrics. 2002. PMID: 12536367

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