Lehmann D - Search Results

1

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Lehmann D, et al. Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15. Eur J Hum Genet. 2015. PMID: 25873012 Free PMC article.

2

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. Lehmann D, et al. Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25447692 Free PMC article.

3

FGF-21 as a Potential Biomarker for Mitochondrial Diseases.

Scholle LM, Lehmann D, Deschauer M, Kraya T, Zierz S. Scholle LM, et al. Among authors: lehmann d. Curr Med Chem. 2018;25(18):2070-2081. doi: 10.2174/0929867325666180111094336. Curr Med Chem. 2018. PMID: 29332568 Review.

4

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Lehmann D, et al. Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472. Nucleic Acids Res. 2019. PMID: 31147703 Free PMC article.

5

Normal protein content but abnormally inhibited enzyme activity in muscle carnitine palmitoyltransferase II deficiency.

Lehmann D, Zierz S. Lehmann D, et al. J Neurol Sci. 2014 Apr 15;339(1-2):183-8. doi: 10.1016/j.jns.2014.02.011. Epub 2014 Feb 20. J Neurol Sci. 2014. PMID: 24602495

6

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions.

Lehmann D, Kornhuber ME, Clajus C, Alston CL, Wienke A, Deschauer M, Taylor RW, Zierz S. Lehmann D, et al. Neurol Genet. 2016 Oct 19;2(6):e113. doi: 10.1212/NXG.0000000000000113. eCollection 2016 Dec. Neurol Genet. 2016. PMID: 27822509 Free PMC article.

7

Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls.

Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CV, Jones RL, Kunz WS, Taylor RW, Kornblum C. Reimann J, et al. Among authors: lehmann d. Neurol Genet. 2017 Apr 5;3(3):e147. doi: 10.1212/NXG.0000000000000147. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28396884 Free PMC article. No abstract available.

8

Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.

Motlagh Scholle L, Lehmann D, Joshi PR, Zierz S. Motlagh Scholle L, et al. Among authors: lehmann d. Int J Mol Sci. 2019 Mar 20;20(6):1400. doi: 10.3390/ijms20061400. Int J Mol Sci. 2019. PMID: 30897730 Free PMC article.

9

Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.

Lehmann D, Motlagh L, Robaa D, Zierz S. Lehmann D, et al. Int J Mol Sci. 2017 Jan 3;18(1):82. doi: 10.3390/ijms18010082. Int J Mol Sci. 2017. PMID: 28054946 Free PMC article. Review.

10

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Altmann J, et al. Among authors: lehmann d. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359

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