Mayr JA - Search Results

1

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Bader I, Decker E, Mayr JA, Lunzer V, Koch J, Boltshauser E, Sperl W, Pietsch P, Ertl-Wagner B, Bolz H, Bergmann C, Rittinger O. Bader I, et al. Among authors: mayr ja. Eur J Med Genet. 2016 Aug;59(8):386-91. doi: 10.1016/j.ejmg.2016.06.007. Epub 2016 Jul 1. Eur J Med Genet. 2016. PMID: 27377014 Review.

2

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. Among authors: mayr ja. Mitochondrion. 2005 Aug;5(4):282-96. doi: 10.1016/j.mito.2005.06.001. Mitochondrion. 2005. PMID: 16050991

3

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.

4

Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.

Wiesbauer M, Meierhofer D, Mayr JA, Sperl W, Paulweber B, Kofler B. Wiesbauer M, et al. Among authors: mayr ja. Electrophoresis. 2006 Oct;27(19):3864-8. doi: 10.1002/elps.200600086. Electrophoresis. 2006. PMID: 16960846

5

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. Neuropediatrics. 2006 Jun;37(3):137-41. doi: 10.1055/s-2006-924555. Neuropediatrics. 2006. PMID: 16967364

6

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

7

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

8

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.

9

Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.

Mayr JA, Meierhofer D, Zimmermann F, Feichtinger R, Kögler C, Ratschek M, Schmeller N, Sperl W, Kofler B. Mayr JA, et al. Clin Cancer Res. 2008 Apr 15;14(8):2270-5. doi: 10.1158/1078-0432.CCR-07-4131. Clin Cancer Res. 2008. PMID: 18413815

10

Lack of complex I is associated with oncocytic thyroid tumours.

Zimmermann FA, Mayr JA, Neureiter D, Feichtinger R, Alinger B, Jones ND, Eder W, Sperl W, Kofler B. Zimmermann FA, et al. Among authors: mayr ja. Br J Cancer. 2009 May 5;100(9):1434-7. doi: 10.1038/sj.bjc.6605028. Epub 2009 Apr 7. Br J Cancer. 2009. PMID: 19352385 Free PMC article.

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