Zimmermann FA - Search Results

1

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene.

Barić I, Fumić K, Petković Ramadža D, Sperl W, Zimmermann FA, Muačević-Katanec D, Mitrović Z, Pažanin L, Cvitanović Šojat L, Kekez T, Reiner Z, Mayr JA. Barić I, et al. Among authors: zimmermann fa. Eur J Hum Genet. 2013 Aug;21(8):871-5. doi: 10.1038/ejhg.2012.272. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232693 Free PMC article.

2

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

Mayr JA, Zimmermann FA, Horváth R, Schneider HC, Schoser B, Holinski-Feder E, Czermin B, Freisinger P, Sperl W. Mayr JA, et al. Among authors: zimmermann fa. Neuromuscul Disord. 2011 Nov;21(11):803-8. doi: 10.1016/j.nmd.2011.06.005. Epub 2011 Jul 16. Neuromuscul Disord. 2011. PMID: 21763135

3

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. Among authors: zimmermann fa. 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

4

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H. Mayr JA, et al. Among authors: zimmermann fa. Am J Hum Genet. 2012 Feb 10;90(2):314-20. doi: 10.1016/j.ajhg.2011.12.005. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284826 Free PMC article.

5

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

6

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

7

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.

Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W. Mayr JA, et al. Among authors: zimmermann fa. Am J Hum Genet. 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. Am J Hum Genet. 2011. PMID: 22152680 Free PMC article.

8

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. Among authors: zimmermann fa. 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.

9

Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.

Zimmermann FA, Mayr JA, Feichtinger R, Neureiter D, Lechner R, Koegler C, Ratschek M, Rusmir H, Sargsyan K, Sperl W, Kofler B. Zimmermann FA, et al. Front Biosci (Elite Ed). 2011 Jan 1;3(1):315-25. doi: 10.2741/e247. Front Biosci (Elite Ed). 2011. PMID: 21196312 Free article. Review.

10

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. Haack TB, et al. Among authors: zimmermann fa. Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11. Am J Hum Genet. 2013. PMID: 23849775 Free PMC article.

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