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Mitochondrial DNA polymerase-gamma and human disease.
Hudson G, Chinnery PF. Hudson G, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52. doi: 10.1093/hmg/ddl233. Hum Mol Genet. 2006. PMID: 16987890 Review.
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Hudson G, et al. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01.WNL.0000149767.51152.83. Neurology. 2005. PMID: 15668446
The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). ...
The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleo …
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. 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 Trial.
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF. Hudson G, et al. Neurology. 2006 May 9;66(9):1439-41. doi: 10.1212/01.wnl.0000210486.32196.24. Neurology. 2006. PMID: 16682683
Causative mutations were identified in approximately 10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). ...
Causative mutations were identified in approximately 10% of cases, with two unrelated individuals harboring a novel premature stop codon mut …
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Longley MJ, et al. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4. Am J Hum Genet. 2006. PMID: 16685652 Free PMC article.
POLG1 in idiopathic Parkinson disease.
Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ, Chinnery PF. Tiangyou W, et al. Neurology. 2006 Nov 14;67(9):1698-700. doi: 10.1212/01.wnl.0000238963.07425.d5. Epub 2006 Aug 30. Neurology. 2006. PMID: 16943369
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Hudson G, et al. Arch Neurol. 2007 Apr;64(4):553-7. doi: 10.1001/archneur.64.4.553. Arch Neurol. 2007. PMID: 17420318
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. 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. Clinical Trial.
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Hudson G, et al. Brain. 2008 Feb;131(Pt 2):329-37. doi: 10.1093/brain/awm272. Epub 2007 Dec 7. Brain. 2008. PMID: 18065439
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