Lochmüller H - Search Results

1

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.

Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Spendiff S, et al. Among authors: lochmuller h. Hum Mol Genet. 2013 Dec 1;22(23):4739-47. doi: 10.1093/hmg/ddt327. Epub 2013 Jul 11. Hum Mol Genet. 2013. PMID: 23847047 Free PMC article.

2

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.

3

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.

4

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

5

A tRNA(Ala) mutation causing mitochondrial myopathy clinically resembling myotonic dystrophy.

Horváth R, Lochmüller H, Scharfe C, Do BH, Oefner PJ, Müller-Höcker J, Schoser BG, Pongratz D, Auer DP, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Med Genet. 2003 Oct;40(10):752-7. doi: 10.1136/jmg.40.10.752. J Med Genet. 2003. PMID: 14569122 Free PMC article. No abstract available.

6

Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene.

Horváth R, Lochmüller H, Hoeltzenbein M, Müller-Höcker J, Schoser BG, Pongratz D, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Med Genet. 2004 Jun;41(6):e75. doi: 10.1136/jmg.2003.015024. J Med Genet. 2004. PMID: 15173241 Free PMC article. No abstract available.

7

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: lochmuller h. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359

8

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.

Horváth R, Schoser BG, Müller-Höcker J, Völpel M, Jaksch M, Lochmüller H. Horváth R, et al. Among authors: lochmuller h. Neuromuscul Disord. 2005 Dec;15(12):851-7. doi: 10.1016/j.nmd.2005.09.005. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288875

9

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Horváth R, Abicht A, Holinski-Feder E, Laner A, Gempel K, Prokisch H, Lochmüller H, Klopstock T, Jaksch M. Horváth R, et al. Among authors: lochmuller h. J Neurol Neurosurg Psychiatry. 2006 Jan;77(1):74-6. doi: 10.1136/jnnp.2005.067041. J Neurol Neurosurg Psychiatry. 2006. PMID: 16361598 Free PMC article.

10

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Horvath R, et al. Among authors: lochmuller h. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

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