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Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene.
Elstner M, Morris CM, Heim K, Lichtner P, Bender A, Mehta D, Schulte C, Sharma M, Hudson G, Goldwurm S, Giovanetti A, Zeviani M, Burn DJ, McKeith IG, Perry RH, Jaros E, Krüger R, Wichmann HE, Schreiber S, Campbell H, Wilson JF, Wright AF, Dunlop M, Pistis G, Toniolo D, Chinnery PF, Gasser T, Klopstock T, Meitinger T, Prokisch H, Turnbull DM. Elstner M, et al. Among authors: turnbull dm. Ann Neurol. 2009 Dec;66(6):792-8. doi: 10.1002/ana.21780. Ann Neurol. 2009. PMID: 20035503 Free PMC article.
Transcriptome analysis in mitochondrial disorders.
Elstner M, Turnbull DM. Elstner M, et al. Among authors: turnbull dm. Brain Res Bull. 2012 Jul 1;88(4):285-93. doi: 10.1016/j.brainresbull.2011.07.018. Epub 2011 Aug 3. Brain Res Bull. 2012. PMID: 21856382 Review.
Progressive depletion of mtDNA in mitochondrial myopathy.
Durham SE, Brown DT, Turnbull DM, Chinnery PF. Durham SE, et al. Among authors: turnbull dm. Neurology. 2006 Aug 8;67(3):502-4. doi: 10.1212/01.wnl.0000227961.55640.2f. Neurology. 2006. PMID: 16894115
Prevalence of mitochondrial DNA disease in adults.
Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Schaefer AM, et al. Among authors: turnbull dm. Ann Neurol. 2008 Jan;63(1):35-9. doi: 10.1002/ana.21217. Ann Neurol. 2008. PMID: 17886296
Nature of mitochondrial DNA deletions in substantia nigra neurons.
Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Reeve AK, et al. Among authors: turnbull dm. Am J Hum Genet. 2008 Jan;82(1):228-35. doi: 10.1016/j.ajhg.2007.09.018. Am J Hum Genet. 2008. PMID: 18179904 Free PMC article.
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. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.
Elstner M, Müller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender A. Elstner M, et al. Among authors: turnbull dm. Mol Brain. 2011 Dec 21;4:43. doi: 10.1186/1756-6606-4-43. Mol Brain. 2011. PMID: 22188897 Free PMC article.
600 results