HuGE Literature Finder
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| A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss. Molecular genetics and metabolism 2022 2 135 (4): 333-341. van Kempen Carlijn M A, Beynon Andy J, Smits Jeroen J, Janssen Mirian C |
| Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. Clinical neurology and neurosurgery 2017 12 164 182-189. Bindu Parayil Sankaran, Sonam Kothari, Govindaraj Periyasamy, Govindaraju Chikkanna, Chiplunkar Shwetha, Nagappa Madhu, Kumar Rakesh, Vekhande Chetan Chandrakanth, Arvinda Hanumanthapura R, Gayathri Narayanappa, Srinivas Bharath M M, Ponmalar J N Jessiena, Philip Mariyamma, Vandana V P, Khan Nahid Akhtar, Nunia Vandana, Paramasivam Arumugam, Sinha Sanjib, Thangaraj Kumarasamy, Taly Arun |
| The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? Journal of neurology 2014 Mar 261 (3): 504-10. Mancuso Michelangelo, Orsucci Daniele, Angelini Corrado, Bertini Enrico, Carelli Valerio, Comi Giacomo Pietro, Donati Alice, Minetti Carlo, Moggio Maurizio, Mongini Tiziana, Servidei Serenella, Tonin Paola, Toscano Antonio, Uziel Graziella, Bruno Claudio, Ienco Elena Caldarazzo, Filosto Massimiliano, Lamperti Costanza, Catteruccia Michela, Moroni Isabella, Musumeci Olimpia, Pegoraro Elena, Ronchi Dario, Santorelli Filippo Maria, Sauchelli Donato, Scarpelli Mauro, Sciacco Monica, Valentino Maria Lucia, Vercelli Liliana, Zeviani Massimo, Siciliano Gabrie |
| The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. Journal of neurology, neurosurgery, and psychiatry 2013 Jan . Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R |
| Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. Journal of medical genetics 2007 Apr 44 (4): e74. Blok M J, Spruijt L, de Coo I F M, Schoonderwoerd K, Hendrickx A, Smeets H |
| Clinical features of A3243G mitochondrial tRNA mutation. Brain & development 2004 Oct 26 (7): 459-62. Chae Jong Hee, Hwang Hee, Lim Byung Chan, Cheong Hae Il, Hwang Yong Seung, Kim Ki Joo |
| Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. Internal medicine journal 0 34 (1-2): 10-9. Marotta R, Chin J, Quigley A, Katsabanis S, Kapsa R, Byrne E, Collins |
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