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Page 1
Genomic Strategies in Mitochondrial Diagnostics.
Deen D, Alston CL, Hudson G, Taylor RW, Pyle A. Deen D, et al. Among authors: pyle a. Methods Mol Biol. 2023;2615:397-425. doi: 10.1007/978-1-0716-2922-2_27. Methods Mol Biol. 2023. PMID: 36807806
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: pyle a. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Stewart JD, et al. Among authors: pyle a. J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180. J Med Genet. 2009. PMID: 19251978
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Horvath R, Kemp JP, Tuppen HA, Hudson G, Oldfors A, Marie SK, Moslemi AR, Servidei S, Holme E, Shanske S, Kollberg G, Jayakar P, Pyle A, Marks HM, Holinski-Feder E, Scavina M, Walter MC, Coku J, Günther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Hirano M, Lochmüller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Horvath R, et al. Among authors: pyle a. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Kemp JP, et al. Among authors: pyle a. Brain. 2011 Jan;134(Pt 1):183-95. doi: 10.1093/brain/awq320. Epub 2010 Dec 17. Brain. 2011. PMID: 21169334 Free PMC article.
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmüller H, Holinski-Feder E, Taylor RW, Chinnery PF. Horvath R, et al. Among authors: pyle a. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8. doi: 10.1136/jnnp-2011-301258. Epub 2011 Oct 29. J Neurol Neurosurg Psychiatry. 2012. PMID: 22036850
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF. Horvath R, et al. Among authors: pyle a. Mov Disord. 2012 May;27(6):789-93. doi: 10.1002/mds.24980. Epub 2012 Apr 16. Mov Disord. 2012. PMID: 22508347
463 results