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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.
Valproate causes metabolic disturbance in normal man.
Turnbull DM, Dick DJ, Wilson L, Sherratt HS, Alberti KG. Turnbull DM, et al. Among authors: dick dj. J Neurol Neurosurg Psychiatry. 1986 Apr;49(4):405-10. doi: 10.1136/jnnp.49.4.405. J Neurol Neurosurg Psychiatry. 1986. PMID: 3084712 Free PMC article.
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. Among authors: dick dj. Brain. 2012 Jun;135(Pt 6):1695-713. doi: 10.1093/brain/aws102. Epub 2012 May 9. Brain. 2012. PMID: 22577215 Free PMC article.
Reaction times and attention in Parkinson's disease.
Bloxham CA, Dick DJ, Moore M. Bloxham CA, et al. Among authors: dick dj. J Neurol Neurosurg Psychiatry. 1987 Sep;50(9):1178-83. doi: 10.1136/jnnp.50.9.1178. J Neurol Neurosurg Psychiatry. 1987. PMID: 3668566 Free PMC article.
80 results