Koch J - Search Results

1

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: koch j. 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.

2

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. Among authors: koch j. Neuropediatrics. 2006 Jun;37(3):137-41. doi: 10.1055/s-2006-924555. Neuropediatrics. 2006. PMID: 16967364

3

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: koch j. 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

4

Tick-borne encephalitis in a 17-day-old newborn resulting in severe neurologic impairment.

Jones N, Sperl W, Koch J, Holzmann H, Radauer W. Jones N, et al. Among authors: koch j. Pediatr Infect Dis J. 2007 Feb;26(2):185-6. doi: 10.1097/01.inf.0000253056.34894.5f. Pediatr Infect Dis J. 2007. PMID: 17259888

5

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mayr JA, et al. Among authors: koch j. Am J Hum Genet. 2007 Mar;80(3):478-84. doi: 10.1086/511788. Epub 2007 Jan 10. Am J Hum Genet. 2007. PMID: 17273968 Free PMC article.

6

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P. Quintana E, et al. Among authors: koch j. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9. J Inherit Metab Dis. 2009. PMID: 19924563

7

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J. Honzík T, et al. Among authors: koch j. Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096. Arch Dis Child. 2010. PMID: 20335238 Free article.

8

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: koch j. 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

9

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: koch j. Neuropediatrics. 2010 Feb;41(1):30-4. doi: 10.1055/s-0030-1255062. Epub 2010 Jun 22. Neuropediatrics. 2010. PMID: 20571988 Free article.

10

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: koch j. 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

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