Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 14 (of 14 Records) |
Query Trace: Chronic Progressive External Ophthalmoplegia[original query] |
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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 |
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 |
Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA. Journal of the neurological sciences 2008 Sep 272 (1-2): 106-9. Cardaioli E, Da Pozzo P, Malfatti E, Gallus G N, Rubegni A, Malandrini A, Gaudiano C, Guidi L, Serni G, Berti G, Dotti M T, Federico |
The unfolding clinical spectrum of POLG mutations. Journal of medical genetics 2009 Nov 46 (11): 776-85. Blok M J, van den Bosch B J, Jongen E, Hendrickx A, de Die-Smulders C E, Hoogendijk J E, Brusse E, de Visser M, Poll-The B T, Bierau J, de Coo I F, Smeets H |
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. Neuromuscular disorders : NMD 2011 1 21 (4): 272-8. Smits Bart W, Fermont Jiske, Delnooz Cathérine C S, Kalkman Joke S, Bleijenberg Gijs, van Engelen Baziel G |
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2015 Dec 26 81-85. Paramasivam Arumugam, Meena Angamuthu Kannan, Pedaparthi Lalitha, Jyothi Vuskamalla, Uppin Megha S, Jabeen Shaikh Afshan, Sundaram Challa, Thangaraj Kumarasa |
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice. Journal of clinical medicine 2017 8 6 (8): . Morovat Alireza, Weerasinghe Gayani, Nesbitt Victoria, Hofer Monika, Agnew Thomas, Quaghebeur Geralrine, Sergeant Kate, Fratter Carl, Guha Nishan, Mirzazadeh Mehdi, Poulton Joan |
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 |
Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. Mitochondrion 2019 Sep . Heighton Julia N, Brady Lauren I, Sadikovic Bekim, Bulman Dennis E, Tarnopolsky Mark |
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. Frontiers in neurology 2020 10 11 1000. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wang |
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. Mitochondrion 2021 1 57 205-212. Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E |
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 |
[Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy]. Rinsho shinkeigaku = Clinical neurology 2022 11 62 (12): 946-951. Shiraishi Wataru, Tateishi Takahisa, Hashimoto Yu, Yamasaki Ryo, Kira Jun-Ichi, Isobe Nori |
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