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602 results

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The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: turnbull dm. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567
The spectrum of hearing loss due to mitochondrial DNA defects.
Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, Griffiths TD. Chinnery PF, et al. Among authors: turnbull dm. Brain. 2000 Jan;123 ( Pt 1):82-92. doi: 10.1093/brain/123.1.82. Brain. 2000. PMID: 10611123
MELAS associated with mutations in the POLG1 gene.
Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. Deschauer M, et al. Among authors: turnbull dm. Neurology. 2007 May 15;68(20):1741-2. doi: 10.1212/01.wnl.0000261929.92478.3e. Neurology. 2007. PMID: 17502560 No abstract available.
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. McFarland R, et al. Among authors: turnbull dm. Neurology. 2007 Aug 28;69(9):911-6. doi: 10.1212/01.wnl.0000267843.10977.4a. Neurology. 2007. PMID: 17724295
OPA1 in multiple mitochondrial DNA deletion disorders.
Stewart JD, Hudson G, Yu-Wai-Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. Stewart JD, et al. Among authors: turnbull dm. Neurology. 2008 Nov 25;71(22):1829-31. doi: 10.1212/01.wnl.0000335931.54095.0a. Neurology. 2008. PMID: 19029523 No abstract available.
602 results