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673 results

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Page 1
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Haghighi A, et al. Among authors: chinnery pf. Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Orphanet J Rare Dis. 2014. PMID: 25208612 Free PMC article. Review.
The epidemiology of mitochondrial disorders--past, present and future.
Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. Schaefer AM, et al. Among authors: chinnery pf. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20. doi: 10.1016/j.bbabio.2004.09.005. Biochim Biophys Acta. 2004. PMID: 15576042 Free article. Review.
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. Among authors: chinnery pf. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917
Investigation of metabolic myopathies.
Taylor RW, Chinnery PF, Turnbull DM. Taylor RW, et al. Among authors: chinnery pf. Handb Clin Neurol. 2007;86:193-204. doi: 10.1016/S0072-9752(07)86009-X. Handb Clin Neurol. 2007. PMID: 18809001 No abstract available.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: chinnery pf. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.
Analysis of mitochondrial DNA mutations : point mutations.
Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Taylor RW, et al. Among authors: chinnery pf. Methods Mol Med. 2000;38:265-77. doi: 10.1385/1-59259-070-5:265. Methods Mol Med. 2000. PMID: 22351281
673 results