Mayr J - Search Results

1

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

Strassburg HM, Koch J, Mayr J, Sperl W, Boltshauser E. Strassburg HM, et al. Among authors: mayr j. Neuropediatrics. 2006 Jun;37(3):137-41. doi: 10.1055/s-2006-924555. Neuropediatrics. 2006. PMID: 16967364

2

Severe depletion of mitochondrial DNA in spinal muscular atrophy.

Berger A, Mayr JA, Meierhofer D, Fötschl U, Bittner R, Budka H, Grethen C, Huemer M, Kofler B, Sperl W. Berger A, et al. Acta Neuropathol. 2003 Mar;105(3):245-51. doi: 10.1007/s00401-002-0638-1. Epub 2002 Nov 14. Acta Neuropathol. 2003. PMID: 12557011

3

Mitochondrial DNA depletion in Alpers syndrome.

Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, Sperl W, Zeman J. Tesarova M, et al. Among authors: mayr ja. Neuropediatrics. 2004 Aug;35(4):217-23. doi: 10.1055/s-2004-821081. Neuropediatrics. 2004. PMID: 15328560

4

Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

Meierhofer D, Mayr JA, Ebner S, Sperl W, Kofler B. Meierhofer D, et al. Mitochondrion. 2005 Aug;5(4):282-96. doi: 10.1016/j.mito.2005.06.001. Mitochondrion. 2005. PMID: 16050991

5

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

Gellerich FN, Mayr JA, Reuter S, Sperl W, Zierz S. Gellerich FN, et al. Mitochondrion. 2004 Sep;4(5-6):427-39. doi: 10.1016/j.mito.2004.07.007. Epub 2004 Oct 18. Mitochondrion. 2004. PMID: 16120404

6

Platelet transfusion can mimic somatic mtDNA mutations.

Meierhofer D, Ebner S, Mayr JA, Jones ND, Kofler B, Sperl W. Meierhofer D, et al. Among authors: mayr ja. Leukemia. 2006 Feb;20(2):362-3. doi: 10.1038/sj.leu.2404070. Leukemia. 2006. PMID: 16357835 No abstract available.

7

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

Meierhofer D, Mayr JA, Fink K, Schmeller N, Kofler B, Sperl W. Meierhofer D, et al. Among authors: mayr ja. Br J Cancer. 2006 Jan 30;94(2):268-74. doi: 10.1038/sj.bjc.6602929. Br J Cancer. 2006. PMID: 16404428 Free PMC article.

8

Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A, Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J. Sperl W, et al. Among authors: mayr ja. Neuromuscul Disord. 2006 Dec;16(12):821-9. doi: 10.1016/j.nmd.2006.08.008. Epub 2006 Oct 17. Neuromuscul Disord. 2006. PMID: 17052906

9

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Mayr JA, Moslemi AR, Förster H, Kamper A, Idriceanu C, Muss W, Huemer M, Oldfors A, Sperl W. Mayr JA, et al. Neuromuscul Disord. 2006 Dec;16(12):874-7. doi: 10.1016/j.nmd.2006.08.010. Epub 2006 Oct 20. Neuromuscul Disord. 2006. PMID: 17056256

10

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mayr JA, et al. Am J Hum Genet. 2007 Mar;80(3):478-84. doi: 10.1086/511788. Epub 2007 Jan 10. Am J Hum Genet. 2007. PMID: 17273968 Free PMC article.

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