Mayr JA - Search Results

1

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB. Ahting U, et al. Among authors: mayr ja. Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015. Front Genet. 2015. PMID: 25918518 Free PMC article.

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. Among authors: mayr ja. 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

Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.

Meierhofer D, Mayr JA, Foetschl U, Berger A, Fink K, Schmeller N, Hacker GW, Hauser-Kronberger C, Kofler B, Sperl W. Meierhofer D, et al. Among authors: mayr ja. Carcinogenesis. 2004 Jun;25(6):1005-10. doi: 10.1093/carcin/bgh104. Epub 2004 Feb 4. Carcinogenesis. 2004. PMID: 14764459

4

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase.

Mayr JA, Paul J, Pecina P, Kurnik P, Förster H, Fötschl U, Sperl W, Houstek J. Mayr JA, et al. Pediatr Res. 2004 Jun;55(6):988-94. doi: 10.1203/01.pdr.0000127016.67809.6b. Pediatr Res. 2004. PMID: 15155867

5

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Horváth R, et al. Among authors: mayr ja. J Inherit Metab Dis. 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. J Inherit Metab Dis. 2005. PMID: 15902551

6

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

7

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. Among authors: mayr ja. Mitochondrion. 2004 Sep;4(5-6):427-39. doi: 10.1016/j.mito.2004.07.007. Epub 2004 Oct 18. Mitochondrion. 2004. PMID: 16120404

8

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.

9

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: mayr ja. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

10

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

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