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Page 1
Emerging therapies for mitochondrial disorders.
Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Nightingale H, et al. Among authors: pfeffer g. Brain. 2016 Jun;139(Pt 6):1633-48. doi: 10.1093/brain/aww081. Epub 2016 May 3. Brain. 2016. PMID: 27190030 Free PMC article. Review.
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evilä A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF. Pfeffer G, et al. Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9. Brain. 2012. PMID: 22577215 Free PMC article.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Pfeffer G, et al. Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10. Brain. 2014. PMID: 24727571 Free PMC article.
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.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
New treatments for mitochondrial disease-no time to drop our standards.
Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. Pfeffer G, et al. Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2. Nat Rev Neurol. 2013. PMID: 23817350 Free PMC article. Review.
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Pyle A, et al. Among authors: pfeffer g. Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12. Brain. 2015. PMID: 25497598 Free PMC article.
SPG7 mutations are a common cause of undiagnosed ataxia.
Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Németh A, Chinnery PF. Pfeffer G, et al. Neurology. 2015 Mar 17;84(11):1174-6. doi: 10.1212/WNL.0000000000001369. Epub 2015 Feb 13. Neurology. 2015. PMID: 25681447 Free PMC article. No abstract available.
125 results