Freisinger P - Search Results

1

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.

Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. Dimmock DP, et al. Among authors: freisinger p. Liver Transpl. 2008 Oct;14(10):1480-5. doi: 10.1002/lt.21556. Liver Transpl. 2008. PMID: 18825706 Free article.

2

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. Freisinger P, et al. J Inherit Metab Dis. 2004;27(1):67-79. doi: 10.1023/B:BOLI.0000016614.47380.2f. J Inherit Metab Dis. 2004. PMID: 14970747

3

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Horváth R, Freisinger P, Rubio R, Merl T, Bax R, Mayr JA, Shawan, Müller-Höcker J, Pongratz D, Moller LB, Horn N, Jaksch M. Horváth R, et al. Among authors: freisinger p. J Inherit Metab Dis. 2005;28(4):479-92. doi: 10.1007/s10545-005-0479-x. J Inherit Metab Dis. 2005. PMID: 15902551

4

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: freisinger p. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

5

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horváth R. Freisinger P, et al. Arch Neurol. 2006 Aug;63(8):1129-34. doi: 10.1001/archneur.63.8.1129. Arch Neurol. 2006. PMID: 16908739

6

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: freisinger p. 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

7

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R. Grabhorn E, et al. Among authors: freisinger p. Liver Transpl. 2014 Apr;20(4):464-72. doi: 10.1002/lt.23830. Epub 2014 Feb 25. Liver Transpl. 2014. PMID: 24478274 Free article. Review.

8

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Among authors: freisinger p. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.

9

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: freisinger p. 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.

10

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: freisinger p. 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

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