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

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