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Year Number of Results
2008 3
2009 27
2010 14
2011 4
2012 6
2013 3
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2015 1
2025 0

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51 results

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Page 1
Inherited mitochondrial optic neuropathies.
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Yu-Wai-Man P, et al. J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10. J Med Genet. 2009. PMID: 19001017 Free PMC article. Review.
The inheritance of pathogenic mitochondrial DNA mutations.
Cree LM, Samuels DC, Chinnery PF. Cree LM, et al. Biochim Biophys Acta. 2009 Dec;1792(12):1097-102. doi: 10.1016/j.bbadis.2009.03.002. Epub 2009 Mar 19. Biochim Biophys Acta. 2009. PMID: 19303927 Free PMC article. Review.
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.
Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Pfeffer G, et al. J Neurol Neurosurg Psychiatry. 2012 Sep;83(9):883-6. doi: 10.1136/jnnp-2012-302568. Epub 2012 May 10. J Neurol Neurosurg Psychiatry. 2012. PMID: 22577227 Free PMC article.
Gene-environment interactions in Leber hereditary optic neuropathy.
Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Kirkman MA, et al. Brain. 2009 Sep;132(Pt 9):2317-26. doi: 10.1093/brain/awp158. Epub 2009 Jun 12. Brain. 2009. PMID: 19525327 Free PMC article.
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH Jr, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, Chance PF, Hannibal MC. Collie AM, et al. J Med Genet. 2010 Sep;47(9):601-7. doi: 10.1136/jmg.2009.072348. Epub 2009 Nov 25. J Med Genet. 2010. PMID: 19939853
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Burke A, Sellar PW, Clarke MP, Gnanaraj L, Ah-Kine D, Hudson G, Czermin B, Taylor RW, Horvath R, Chinnery PF. Yu-Wai-Man P, et al. Ophthalmology. 2010 Aug;117(8):1538-46, 1546.e1. doi: 10.1016/j.ophtha.2009.12.038. Epub 2010 Apr 24. Ophthalmology. 2010. PMID: 20417570 Free PMC article.
OPA1 increases the risk of normal but not high tension glaucoma.
Yu-Wai-Man P, Stewart JD, Hudson G, Andrews RM, Griffiths PG, Birch MK, Chinnery PF. Yu-Wai-Man P, et al. J Med Genet. 2010 Feb;47(2):120-5. doi: 10.1136/jmg.2009.067512. Epub 2009 Jul 5. J Med Genet. 2010. PMID: 19581274 Free PMC article.
Quality of life in patients with leber hereditary optic neuropathy.
Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Griffiths PG, Hudson G, Chinnery PF, Yu-Wai-Man P. Kirkman MA, et al. Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3112-5. doi: 10.1167/iovs.08-3166. Epub 2009 Feb 28. Invest Ophthalmol Vis Sci. 2009. PMID: 19255150
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. Goizet C, et al. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Brain. 2009. PMID: 19439420
51 results