Mayr JA - Search Results

1

CAD mutations and uridine-responsive epileptic encephalopathy.

Koch J, Mayr JA, Alhaddad B, Rauscher C, Bierau J, Kovacs-Nagy R, Coene KL, Bader I, Holzhacker M, Prokisch H, Venselaar H, Wevers RA, Distelmaier F, Polster T, Leiz S, Betzler C, Strom TM, Sperl W, Meitinger T, Wortmann SB, Haack TB. Koch J, et al. Among authors: mayr ja. Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21. Brain. 2017. PMID: 28007989

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

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

6

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.

7

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

8

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

9

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

10

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

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