Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Ophthalmoplegia and PEO1[original query] |
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Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Archives of neurology 2006 1 63 (1): 107-11. González-Vioque Emiliano, Blázquez Alberto, Fernández-Moreira Daniel, Bornstein Belén, Bautista Juan, Arpa Javier, Navarro Carmen, Campos Yolanda, Fernández-Moreno Miguel A, Garesse Rafael, Arenas Joaquin, Martín Miguel |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Archives of neurology 2007 Apr 64 (4): 553-7. Hudson Gavin, Schaefer Andrew M, Taylor Robert W, Tiangyou Watcharee, Gibson Andrew, Venables Graham, Griffiths Philip, Burn David J, Turnbull Douglass M, Chinnery Patrick |
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. Journal of neurology 2008 Sep 255 (9): 1384-91. Virgilio Roberta, Ronchi Dario, Hadjigeorgiou Georgios M, Bordoni Andreina, Saladino Francesca, Moggio Maurizio, Adobbati Laura, Kafetsouli Demetra, Tsironi Evangelia, Previtali Stefano, Papadimitriou Alexandros, Bresolin Nereo, Comi Giacomo |
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. Acta ophthalmologica 2015 Oct . Widgren Paula, Hurme Anri, Falck Aura, Keski-Filppula Riikka, Remes Anne M, Moilanen Jukka, Majamaa Kari, Kervinen Marko, Uusimaa Johan |
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