Hudson G - Search Results

1

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: hudson g. Brain. 2006 Jul;129(Pt 7):1674-84. doi: 10.1093/brain/awl088. Epub 2006 Apr 18. Brain. 2006. PMID: 16621917

2

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

3

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

Deschauer M, Hudson G, Müller T, Taylor RW, Chinnery PF, Zierz S. Deschauer M, et al. Among authors: hudson g. Neuromuscul Disord. 2005 Apr;15(4):311-5. doi: 10.1016/j.nmd.2004.12.004. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15792871

4

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.

5

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

6

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. Among authors: hudson g. 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.

7

POLG1 in idiopathic Parkinson disease.

Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ, Chinnery PF. Tiangyou W, et al. Among authors: hudson g. Neurology. 2006 Nov 14;67(9):1698-700. doi: 10.1212/01.wnl.0000238963.07425.d5. Epub 2006 Aug 30. Neurology. 2006. PMID: 16943369

8

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.

9

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

10

The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.

Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M, Chinnery PF. Craig K, et al. Among authors: hudson g. Brain. 2007 Apr;130(Pt 4):E69; author reply E70. doi: 10.1093/brain/awm009. Brain. 2007. PMID: 17438011 No abstract available.

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