Neurology
ISSNs: 0028-3878,
References in Neurology:
| Title | Authors | Year |
|---|---|---|
| Patient homozygous for a recessive POLG mutation presents with features of MERRF. | Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C | 2003 |
| Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. | Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A | 2007 |
| POLG mutations in Alpers syndrome. | Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK | 2005 |
| Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. | Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP | 2003 |
| Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. | Schulte C, Synofzik M, Gasser T, Schöls L | 2009 |
| Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. | Giordano C, Powell H, Leopizzi M, De Curtis M, de Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G | 2009 |
| MELAS associated with mutations in the POLG1 gene. | Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW | 2007 |
| Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. | Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA | 2005 |
| POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. | Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V | 2004 |
| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). | Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M | 2003 |
| Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease. | Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM | 2009 |
| POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. | Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C | 2004 |
| POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. | Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF | 2006 |
| POLG1 in idiopathic Parkinson disease. | Tiangyou W, Hudson G, Ghezzi D, Ferrari G, Zeviani M, Burn DJ, Chinnery PF | 2006 |
| Association of acetylcholine receptor alpha-subunit gene expression in mixed thymoma with myasthenia gravis. | Wilisch A, Gutsche S, Hoffacker V, Schultz A, Tzartos S, Nix W, Schalke B, Schneider C, Müller-Hermelink HK, Marx A | 1999 |