Mayr JA - Search Results

1

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ. Wortmann SB, et al. Among authors: mayr ja. Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28905505

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

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JA. Budde SM, et al. Among authors: mayr ja. J Inherit Metab Dis. 2003;26(8):813-5. doi: 10.1023/b:boli.0000010003.14113.af. J Inherit Metab Dis. 2003. PMID: 14765537

5

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

6

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

7

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

8

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

9

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.

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: mayr ja. 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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