Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

774 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Among authors: horvath r. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.
Risk of developing a mitochondrial DNA deletion disorder.
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM. Chinnery PF, et al. Among authors: horvath r. Lancet. 2004 Aug 14-20;364(9434):592-6. doi: 10.1016/S0140-6736(04)16851-7. Lancet. 2004. PMID: 15313359
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: horvath r. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 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
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: horvath r. 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.
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: horvath r. Neurology. 2008 Nov 25;71(22):1829-31. doi: 10.1212/01.wnl.0000335931.54095.0a. Neurology. 2008. PMID: 19029523 No abstract available.
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. Brain. 2009 Nov;132(Pt 11):3165-74. doi: 10.1093/brain/awp221. Epub 2009 Aug 31. Brain. 2009. PMID: 19720722 Free PMC article.
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C. Poulton J, et al. Among authors: horvath r. Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Biochim Biophys Acta. 2009. PMID: 19748572 Free article. Review.
774 results