Lochmuller H - Search Results

1

A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R. Jaksch M, et al. Among authors: lochmuller h. Neurology. 2001 Nov 27;57(10):1930-1. doi: 10.1212/wnl.57.10.1930. Neurology. 2001. PMID: 11723298 No abstract available.

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

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.

4

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M. Horvath R, et al. Among authors: lochmuller h. Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3. doi: 10.1006/bbrc.2000.3495. Biochem Biophys Res Commun. 2000. PMID: 11027508

5

Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.

Thirion C, Stucka R, Mendel B, Gruhler A, Jaksch M, Nowak KJ, Binz N, Laing NG, Lochmüller H. Thirion C, et al. Among authors: lochmuller h. Eur J Biochem. 2001 Jun;268(12):3473-82. doi: 10.1046/j.1432-1327.2001.02247.x. Eur J Biochem. 2001. PMID: 11422377 Free article.

6

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Jaksch M, et al. Among authors: lochmuller h. J Med Genet. 2001 Oct;38(10):665-73. doi: 10.1136/jmg.38.10.665. J Med Genet. 2001. PMID: 11584044 Free PMC article.

7

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: lochmuller h. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

8

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: lochmuller h. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

9

Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

Horváth R, Scharfe C, Hoeltzenbein M, Do BH, Schröder C, Warzok R, Vogelgesang S, Lochmüller H, Müller-Höcker J, Gerbitz KD, Oefner PJ, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Med Genet. 2002 Nov;39(11):812-6. doi: 10.1136/jmg.39.11.812. J Med Genet. 2002. PMID: 12414820 Free PMC article. No abstract available.

10

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: lochmuller h. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119

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