Jaksch M - Search Results

1

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez-Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärtner J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, Smith-Hicks CL, Hino-Fukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Zagaglia S, et al. Among authors: jaksch m. Neurology. 2018 Nov 27;91(22):e2078-e2088. doi: 10.1212/WNL.0000000000006567. Epub 2018 Nov 9. Neurology. 2018. PMID: 30413629 Free PMC article.

2

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz KD. Jaksch M, et al. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409. Ann Neurol. 1998. PMID: 9778262

3

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. Jaksch M, et al. Hum Mol Genet. 2000 Mar 22;9(5):795-801. doi: 10.1093/hmg/9.5.795. Hum Mol Genet. 2000. PMID: 10749987

4

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. Hum Mol Genet. 2001 Dec 15;10(26):3025-35. doi: 10.1093/hmg/10.26.3025. Hum Mol Genet. 2001. PMID: 11751685

5

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.

Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H. Taanman JW, et al. Among authors: jaksch m. Ann Neurol. 2002 Aug;52(2):237-9. doi: 10.1002/ana.10247. Ann Neurol. 2002. PMID: 12210798

6

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz DE, Müller-Höcker J, Jedele KB, Meitinger T, Gerbitz KD. Jaksch M, et al. J Med Genet. 1998 Nov;35(11):895-900. doi: 10.1136/jmg.35.11.895. J Med Genet. 1998. PMID: 9832034 Free PMC article.

7

Age and cause of death in mitochondrial diseases.

Klopstock T, Jaksch M, Gasser T. Klopstock T, et al. Among authors: jaksch m. Neurology. 1999 Sep 11;53(4):855-7. doi: 10.1212/wnl.53.4.855. Neurology. 1999. PMID: 10489054

8

Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.

Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Jaksch M, et al. J Med Genet. 2001 Oct;38(10):665-73. doi: 10.1136/jmg.38.10.665. J Med Genet. 2001. PMID: 11584044 Free PMC article.

9

Mitochondrial diabetes mellitus: a review.

Gerbitz KD, van den Ouweland JM, Maassen JA, Jaksch M. Gerbitz KD, et al. Among authors: jaksch m. Biochim Biophys Acta. 1995 May 24;1271(1):253-60. doi: 10.1016/0925-4439(95)00036-4. Biochim Biophys Acta. 1995. PMID: 7599217 Free article. Review.

10

Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.

Gerbitz KD, Paprotta A, Jaksch M, Zierz S, Drechsel J. Gerbitz KD, et al. Among authors: jaksch m. FEBS Lett. 1993 Apr 26;321(2-3):194-6. doi: 10.1016/0014-5793(93)80106-5. FEBS Lett. 1993. PMID: 8477849 Free article.

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