Sperl W - Search Results

1

A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.

Mayr JA, Koch J, Fauth C, Zimmermann FA, Rauscher C, Zschocke J, Sperl W. Mayr JA, et al. Among authors: sperl w. Neuropediatrics. 2012 Jun;43(3):130-4. doi: 10.1055/s-0032-1309308. Epub 2012 Apr 2. Neuropediatrics. 2012. PMID: 22473288

2

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: sperl w. 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

3

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. Sperl W, et al. J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20. J Inherit Metab Dis. 2015. PMID: 25526709 Review.

4

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. Among authors: sperl w. Clin Cancer Res. 2008 Apr 15;14(8):2270-5. doi: 10.1158/1078-0432.CCR-07-4131. Clin Cancer Res. 2008. PMID: 18413815

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. Among authors: sperl w. 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

Alterations of respiratory chain complexes in sporadic pheochromocytoma.

Feichtinger RG, Zimmermann FA, Mayr JA, Neureiter D, Ratschek M, Jones N, Sperl W, Kofler B. Feichtinger RG, et al. Among authors: sperl w. Front Biosci (Elite Ed). 2011 Jan 1;3(1):194-200. doi: 10.2741/e233. Front Biosci (Elite Ed). 2011. PMID: 21196298 Free article.

7

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: sperl w. 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

8

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: sperl w. 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.

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. Among authors: sperl w. 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

Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.

Mueller EE, Mayr JA, Zimmermann FA, Feichtinger RG, Stanger O, Sperl W, Kofler B. Mueller EE, et al. Among authors: sperl w. Biochem Biophys Res Commun. 2012 Jan 20;417(3):1052-7. doi: 10.1016/j.bbrc.2011.12.093. Epub 2011 Dec 26. Biochem Biophys Res Commun. 2012. PMID: 22222373

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