Kornblum C - Search Results

1

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M. Nicholls TJ, et al. Among authors: kornblum c. Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30. Hum Mol Genet. 2014. PMID: 24986917 Free PMC article.

2

New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle.

Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. Schröder R, et al. Among authors: kornblum c. J Neuropathol Exp Neurol. 2000 May;59(5):353-60. doi: 10.1093/jnen/59.5.353. J Neuropathol Exp Neurol. 2000. PMID: 10888364

3

Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism.

Zsurka G, Schröder R, Kornblum C, Rudolph J, Wiesner RJ, Elger CE, Kunz WS. Zsurka G, et al. Among authors: kornblum c. J Med Genet. 2004 Dec;41(12):e124. doi: 10.1136/jmg.2004.022566. J Med Genet. 2004. PMID: 15591266 Free PMC article. No abstract available.

4

[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)].

Kornblum C, Kunz WS, Klockgether T, Roggenkämper P, Schröder R. Kornblum C, et al. Klin Monbl Augenheilkd. 2004 Dec;221(12):1057-61. doi: 10.1055/s-2004-813830. Klin Monbl Augenheilkd. 2004. PMID: 15599814 German.

5

Dopamine transporter SPECT in patients with mitochondrial disorders.

Minnerop M, Kornblum C, Joe AY, Tatsch K, Kunz WS, Klockgether T, Wüllner U, Reinhardt MJ. Minnerop M, et al. Among authors: kornblum c. J Neurol Neurosurg Psychiatry. 2005 Jan;76(1):118-20. doi: 10.1136/jnnp.2004.040220. J Neurol Neurosurg Psychiatry. 2005. PMID: 15608010 Free PMC article.

6

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis.

Okulla T, Kunz WS, Klockgether T, Schröder R, Kornblum C. Okulla T, et al. Among authors: kornblum c. Graefes Arch Clin Exp Ophthalmol. 2005 Apr;243(4):380-2. doi: 10.1007/s00417-004-1000-1. Epub 2004 Oct 13. Graefes Arch Clin Exp Ophthalmol. 2005. PMID: 15864628

7

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy.

Zsurka G, Kraytsberg Y, Kudina T, Kornblum C, Elger CE, Khrapko K, Kunz WS. Zsurka G, et al. Among authors: kornblum c. Nat Genet. 2005 Aug;37(8):873-7. doi: 10.1038/ng1606. Epub 2005 Jul 17. Nat Genet. 2005. PMID: 16025113 Free PMC article.

8

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment.

Vielhaber S, Kornblum C, Heinze HJ, Elger CE, Kunz WS. Vielhaber S, et al. Among authors: kornblum c. Brain. 2005 Dec;128(Pt 12):E38. doi: 10.1093/brain/awh652. Brain. 2005. PMID: 16311266 No abstract available.

9

Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis.

Zsurka G, Hampel KG, Kudina T, Kornblum C, Kraytsberg Y, Elger CE, Khrapko K, Kunz WS. Zsurka G, et al. Among authors: kornblum c. Am J Hum Genet. 2007 Feb;80(2):298-305. doi: 10.1086/511282. Epub 2006 Dec 27. Am J Hum Genet. 2007. PMID: 17236134 Free PMC article.

10

[Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy].

Wabbels B, Ali N, Kunz WS, Roggenkämper P, Kornblum C. Wabbels B, et al. Among authors: kornblum c. Ophthalmologe. 2008 Jun;105(6):550-6. doi: 10.1007/s00347-007-1643-5. Ophthalmologe. 2008. PMID: 18373100 German.

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