Freisinger P - Search Results

1

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

2

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.

Staudt M, Wermuth B, Freisinger P, Hässler A, Pontz BF. Staudt M, et al. Among authors: freisinger p. J Inherit Metab Dis. 1998 Feb;21(1):71-2. doi: 10.1023/a:1005315531630. J Inherit Metab Dis. 1998. PMID: 9501271 No abstract available.

3

Carbohydrate-deficient glycoprotein syndrome type 2.

Engelhardt H, Staudt M, Hässler A, Holzbach U, Freisinger P, Krägeloh-Mann I. Engelhardt H, et al. Among authors: freisinger p. J Inherit Metab Dis. 1999 Apr;22(2):192-3. doi: 10.1023/a:1005422610091. J Inherit Metab Dis. 1999. PMID: 10234618 No abstract available.

4

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.

Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. Jaksch M, et al. Among authors: freisinger p. Neurology. 2001 Oct 23;57(8):1440-6. doi: 10.1212/wnl.57.8.1440. Neurology. 2001. PMID: 11673586

5

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.

Jaksch M, Paret C, Stucka R, Horn N, Müller-Höcker J, Horvath R, Trepesch N, Stecker G, Freisinger P, Thirion C, Müller J, Lunkwitz R, Rödel G, Shoubridge EA, Lochmüller H. Jaksch M, et al. Among authors: freisinger p. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

6

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

7

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

8

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

9

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.

Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C. Knuf M, et al. Among authors: freisinger p. Acta Paediatr. 2007 Jan;96(1):130-2. doi: 10.1111/j.1651-2227.2007.00008.x. Acta Paediatr. 2007. PMID: 17187620

10

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. Among authors: freisinger p. 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

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