Curriculum Vitae | Freiburg Medical Laboratory, Dubai

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Curriculum Vitae - PD Dr. med. Michaela Jaksch-Angerer

25) Hutchin T, Navarro-Coy N, Van Camp G, Tiranti V, Zeviani M, Schuelke M, Jaksch M, Newton V and Mueller R (2001). Multiple origins of the mtDNA 7472 ins C mutation associated with hearing loss and neurological dysfunction. Eur J Hum Genet 9: 385-387

26) Finsterer J, Stollberger C, Kopsa W, Jaksch M (2001) Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy. Can J Cardiol 17:464-466

27) Rosskopf D, Frey U, Eckhardt S, Schmidt E, Hofmann S, Jaksch M, Müller N, Hüsing J, Siffert W, Jöckel KH (2000) Interaction of the G Protein ß3 Subunit T825 Allele and IRS-1 Arg972 Variant in Type II Diabetes. Eur J Med Res 5: 484-490

28) Horvath R, Lochmuller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M* (2000) Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Biochem Biophys Res Commun 24: 530-533

29) Scharfe C, Hauschild M, Klopstock T, Heidemann PH, Meitinger T, Jaksch M* (2000) A new mutation in thiamine -responsive megaloblastic anemia gene SCLC19A2 is associated with deficiency of respiratory chain complex I. J Med Gen 37: 669-673

30) Jaksch M*, Ogilvie I, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA (2000) Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 9: 795-801

31) Scharfe C, Zaccaria P, Hoertnagel K, Jaksch M, Klopstock T, Dembowski M, Lill R, Prokisch H, Gerbitz KD, Neupert W, Mewes HW, Meitinger T (2000) MITOP, the mitochondrial proteome database: 2000 update. Nucleic Acids Res 28: 155-158

32) Gempel K, Kottlors M, Jaksch M, Gerbitz KD, Bauer MF (1999) Carnitine palmitoyltransferase II deficiency: detection of characteristic carnitine esters in serum by tandem mass spectrometry. J Inherited Metab Dis 22: 941-942

33) Bauer MF, Gempel K, Hofmann S, Jaksch M, Philbrook C, Gerbitz KD (1999) Mitochondrial disorders. A diagnostic challenge in clinical chemistry. Clin Chem Lab Med 37: 855-876

34) Kiechl S, Kohlendorfer U, Thaler C, Skladal D, Jaksch M, Obermaier-Kusser B, Willeit J. Different clinical aspects of debrancher deficiency myopathy (1999). J Neurol Neurosurg Psychiatry 67: 364-368

35) Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, Freisinger P, Bindoff L, Gerbitz KD, Comi G-P, Uziel G, Zeviani M, Meitinger T (1999) Loss of function Mutations of SURF-1 Are Specifically Associated with Leigh Syndrome with Cytochrome-c-Oxidase Deficiency. Ann Neurol 46: 161-166 J Inherit Metab Dis: 27:67-79.

36) Klopstock T, Jaksch M, Gasser T (1999). Causes of death in mitochondrial diseases. Neurology 53: 855-857

37) Scharfe C, Zaccharia P, Hoertnagel K, Jaksch M, Klopstock T, Lill R, Prokisch H, Gerbitz KD, Mewes HW, Meitinger T (1999) MITOP-database for mitochondria-related proteins, genes and diseases. Nucleic Acids Res 1: 153-155

38) Jaksch M*, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz KD (1998) Progressive Myoclonus Epilepsy and Mitochondrial Myopathy Associated with Mutations in the tRNASer(UCN) gene. Ann Neurol 44: 635-641

39) Jaksch M*, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz D, Müller-Höcker J, Meitinger T and Gerbitz KD (1998) A systematic screen of nuclear and mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency reveals mitochondrial tRNASer(UCN) mutations in a subgroup with syndromal enecephalopathy. J Med Gen 35: 895-900

40) Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B and Gerbitz KD (1997) Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome. Mol Cell Biochem 174: 209-213

41) Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D-loop variants and association with disease. Hum Mol Genet 6: 1835-1846 (First authorship for SH und MJ)

42) Hofmann S, Bezold R, Jaksch M, Kaufhold P, Obermaier-Kusser B and Gerbitz KD (1997) Disease Relevance of the So-Called Secondary Leber Hereditary Optic Neuropathy Mutations. Am J Hum Genet 60: 1539-1542

43) Hofmann S, Bezold R, Jaksch M, Mertens S, Obermaier-Kusser B, Kaufhold P, Rabl W, Hecker W and Gerbitz K.-D. (1997) Wolfram (DIDMOAD) syndrome and Leber's hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. Genomics 39: 8-18 Neurology 57:1930

44) Jaksch M*, Hofmann S and Gerbitz KD (1996) Glucagon receptor gene mutation in NIDDM. Diabetologia 39: 248

45) Jaksch M*, Hofmann S, Kaufhold P, Obermeier-Kusser B, Zierz S, Gerbitz KD (1996) A Novel Combination of Mitochondrial tRNA and ND1 gene Mutations in a Syndrome with MELAS and Diabetes Mellitus. Hum Mut 7: 358-360

46) Bezold R, Hofmann S, Jaksch M, Kaufhold P and Gerbitz KD (1995) Wolfram Syndrome: a mitochondrial disorder? Diabetes care 18: (4): 583-584

47) Gerbitz KD, van den Ouweland JMW, Maasen X and Jaksch M (1995)Mitochondrial Diabetes mellitus: A Review. Biochim Biophys Acta 1271: 253-260

48) Jaksch M*, Gerbitz KD and Kilger C (1995) Screening for mitochondrial DNA (mtDNA) point mutations using nonradioactive single strand conformation polymorphism (SSCP) analysis. Clin Biochem 28: 1-7

49) Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, Meire F, Cochaux P, Blankenagel A, Kommerell G, Jaksch M and Gerbitz KD (1994).Features of mtDNA Mutation Patterns in European Pedigrees and Sporadic Cases with Leber's Hereditary Optic Neuropathy. Am J Hum Genet 55: 1063-1066

50) Gerbitz KD and Jaksch M (1994).Mitochondrial DNA, Aging and Sudden Infant Death Syndrome. Eur J Clin Chem Clin Biochem 32: 487-488

51) Gerbitz KD, Paprotta A, Jaksch M, Zierz S and Drechsel J (1993).Diabetes mellitus is one of the heterogenous phenotypic features of a mitochondrial DNA point mutation within the tRNA Leu(UUR) gene. FEBS letters 321: 194-196

52) Hellweg R, Nitsch R, Hock C, Jaksch M and Hoyer S (1992). Nerve Growth Factor and Choline Acetyltransferase Activity Levels in the Rat Brain Following Experimental Impairment of Cerebral Glucose and Energy Metabolism. J Neuroscience Res 31: 479-486

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