Mayr J - Search Results

1

ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysis.

Žigman T, Šikić K, Petković Ramadža D, Mayr J, Wortmann S, Prokisch H, Ninković D, Dilber D, Šarić D, Rubić F, Galić S, Slaviček J, Belina D, Fumić K, Barić I. Žigman T, et al. Among authors: mayr j. J Pediatr Endocrinol Metab. 2020 Nov 13;34(3):389-393. doi: 10.1515/jpem-2020-0396. Print 2021 Mar 26. J Pediatr Endocrinol Metab. 2020. PMID: 33180048

2

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

3

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

4

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

5

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J. Mayr JA, et al. Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21. Hum Mol Genet. 2010. PMID: 20566710

6

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

Herzer M, Koch J, Prokisch H, Rodenburg R, Rauscher C, Radauer W, Forstner R, Pilz P, Rolinski B, Freisinger P, Mayr JA, Sperl W. Herzer M, et al. Among authors: mayr ja. Neuropediatrics. 2010 Feb;41(1):30-4. doi: 10.1055/s-0030-1255062. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571988 Free article.

7

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.

Danhauser K, Iuso A, Haack TB, Freisinger P, Brockmann K, Mayr JA, Meitinger T, Prokisch H. Danhauser K, et al. Mol Genet Metab. 2011 Jun;103(2):161-6. doi: 10.1016/j.ymgme.2011.03.004. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21458341

8

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W. Mayr JA, et al. Mol Genet Metab. 2011 Aug;103(4):358-61. doi: 10.1016/j.ymgme.2011.04.010. Epub 2011 May 5. Mol Genet Metab. 2011. PMID: 21596602

9

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W. Mayr JA, et al. Am J Hum Genet. 2011 Dec 9;89(6):806-12. doi: 10.1016/j.ajhg.2011.11.007. Am J Hum Genet. 2011. PMID: 22152682 Free PMC article.

10

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H. Haack TB, et al. Among authors: mayr ja. J Med Genet. 2012 Feb;49(2):83-9. doi: 10.1136/jmedgenet-2011-100577. Epub 2011 Dec 26. J Med Genet. 2012. PMID: 22200994

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