Lochmuller H - Search Results

1

Morar B, Gresham D, Angelicheva D, Tournev I, Gooding R, Guergueltcheva V, Schmidt C, Abicht A, Lochmuller H, Tordai A, Kalmar L, Nagy M, Karcagi V, Jeanpierre M, Herczegfalvi A, Beeson D, Venkataraman V, Warwick Carter K, Reeve J, de Pablo R, Kucinskas V, Kalaydjieva L. Morar B, et al. Among authors: lochmuller h. Am J Hum Genet. 2004 Oct;75(4):596-609. doi: 10.1086/424759. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322984 Free PMC article.

2

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

3

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.

4

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.

5

Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.

Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Merlini L, et al. Among authors: lochmuller h. Neurology. 2002 Jan 22;58(2):231-6. doi: 10.1212/wnl.58.2.231. Neurology. 2002. PMID: 11805249

6

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

7

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.

8

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

9

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

10

Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.

Hunter M, Bernard R, Freitas E, Boyer A, Morar B, Martins IJ, Tournev I, Jordanova A, Guergelcheva V, Ishpekova B, Kremensky I, Nicholson G, Schlotter B, Lochmüller H, Voit T, Colomer J, Thomas PK, Levy N, Kalaydjieva L. Hunter M, et al. Among authors: lochmuller h. Hum Mutat. 2003 Aug;22(2):129-35. doi: 10.1002/humu.10240. Hum Mutat. 2003. PMID: 12872253

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