|
|
|
Article Cited by others ORIGINAL ARTICLE
Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia
Houshmand Massoud, Panahi M. Shafa Shariat, Hosseini B N, Dorraj G H, Tabassi A R
Year : 2006| Volume: 54| Issue : 2 | Page no: 182-185 | This article has been cited by | | 1 |
Identification of a novel twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing |
|
| | Dündar, H. and Özgül, R.K. and Yalnzoǧlu, D. and Erdem, S. and Oǧuz, K.K. and Tuncel, D. and Temuçin, C.M. and Dursun, A. | | | Pediatric Neurology. 2012; 46(3): 172-177 | | | [Pubmed] [Google Scholar] | | | 2 |
TWINKLE gene mutation: Report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review |
|
| | Martin-Negrier, M.-L., Sole, G., Jardel, C., Vital, C., Ferrer, X., Vital, A. | | | European Journal of Neurology. 2011; 18(3): 436-441 | | | [Pubmed] [Google Scholar] | | | 3 |
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity |
|
| | Longley, M.J., Humble, M.M., Sharief, F.S., Copeland, W.C. | | | Journal of Biological Chemistry. 2010; 285(39): 29690-29702 | | | [Pubmed] [Google Scholar] | | | 4 |
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO |
|
| | Fratter, C., Gorman, G.S., Stewart, J.D., Buddles, M., Smith, C., Evans, J., Seller, A., Taylor, R.W. | | | Neurology. 2010; 74(20): 1619-1626 | | | [Pubmed] [Google Scholar] | | | 5 |
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of tw/akkle-related dominant disease |
|
| | Van Hove, J.L.K., Cunningham, V., Rice, C., Ringel, S.P., Zhang, Q., Chou, P.-C., Truong, C.K., Wong, L.-J.C. | | | American Journal of Medical Genetics, Part A. 2009; 149(5): 861-867 | | | [Pubmed] [Google Scholar] | | | 6 |
A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO |
|
| | Liu, Z., Ding, Y., Du, A., Zhang, B., Zhao, G., Ding, M.P. | | | Molecular Vision. 2008; 14: 1995-2001 | | | [Pubmed] [Google Scholar] | |
|
|
