Chinnery PF - Search Results

1

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R. Bartsakoulia M, et al. Among authors: chinnery pf. Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033. Hum Mol Genet. 2018. PMID: 29361167 Free PMC article.

2

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.

Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. Chinnery PF, et al. Neurology. 1997 Oct;49(4):1166-8. doi: 10.1212/wnl.49.4.1166. Neurology. 1997. PMID: 9339712

3

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: chinnery pf. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.

4

Mitochondrial DNA analysis: polymorphisms and pathogenicity.

Chinnery PF, Howell N, Andrews RM, Turnbull DM. Chinnery PF, et al. J Med Genet. 1999 Jul;36(7):505-10. J Med Genet. 1999. PMID: 10424809 Free PMC article. Review.

5

Clinical mitochondrial genetics.

Chinnery PF, Howell N, Andrews RM, Turnbull DM. Chinnery PF, et al. J Med Genet. 1999 Jun;36(6):425-36. J Med Genet. 1999. PMID: 10874629 Free PMC article. Review.

6

Point mutations of the mtDNA control region in normal and neurodegenerative human brains.

Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM. Chinnery PF, et al. Am J Hum Genet. 2001 Feb;68(2):529-32. doi: 10.1086/318204. Epub 2000 Dec 21. Am J Hum Genet. 2001. PMID: 11133363 Free PMC article.

7

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Elson JL, et al. Among authors: chinnery pf. Am J Hum Genet. 2001 Mar;68(3):802-6. doi: 10.1086/318801. Epub 2001 Feb 6. Am J Hum Genet. 2001. PMID: 11179029 Free PMC article.

8

Epidemiology and treatment of mitochondrial disorders.

Chinnery PF, Turnbull DM. Chinnery PF, et al. Am J Med Genet. 2001 Spring;106(1):94-101. doi: 10.1002/ajmg.1426. Am J Med Genet. 2001. PMID: 11579428 Review.

9

Can mitochondrial DNA mutations cause sperm dysfunction?

Spiropoulos J, Turnbull DM, Chinnery PF. Spiropoulos J, et al. Among authors: chinnery pf. Mol Hum Reprod. 2002 Aug;8(8):719-21. doi: 10.1093/molehr/8.8.719. Mol Hum Reprod. 2002. PMID: 12149402

10

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: chinnery pf. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

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