Lochmüller H - Search Results

1

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.

Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocević-Stojanović V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento A, Vilchez JJ, Muelas N, Argov Z, Abicht A, Lochmüller H. Chaouch A, et al. Among authors: lochmuller h. J Neurol. 2012 Mar;259(3):474-81. doi: 10.1007/s00415-011-6204-9. Epub 2011 Aug 7. J Neurol. 2012. PMID: 21822932

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. Among authors: lochmuller h. Eur J Med Res. 1997 Dec 31;2(12):515-22. Eur J Med Res. 1997. PMID: 9498929

3

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. Among authors: lochmuller h. Neurology. 1999 Oct 22;53(7):1564-9. doi: 10.1212/wnl.53.7.1564. Neurology. 1999. PMID: 10534268

4

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: lochmuller h. J Neurol. 2000 Jan;247(1):65-7. doi: 10.1007/s004150050015. J Neurol. 2000. PMID: 10701903 Review. No abstract available.

5

Technology evaluation: CRIB (CNTF delivery) CytoTherapeutics Inc.

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

6

Technology evaluation: edrecolomab, Centocor Inc.

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

7

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. Among authors: lochmuller h. Brain. 2002 May;125(Pt 5):1005-13. doi: 10.1093/brain/awf095. Brain. 2002. PMID: 11960891

8

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

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

9

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: lochmuller h. Neuropediatrics. 2002 Oct;33(5):249-54. doi: 10.1055/s-2002-36738. Neuropediatrics. 2002. PMID: 12536367

10

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: lochmuller h. Neuromuscul Disord. 2003 Mar;13(3):245-51. doi: 10.1016/s0960-8966(02)00273-0. Neuromuscul Disord. 2003. PMID: 12609506

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