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 |
| Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations. Annals of clinical and translational neurology 2021 5 8 (6): 1200-1211. Gramegna Laura L, Evangelisti Stefania, Di Vito Lidia, La Morgia Chiara, Maresca Alessandra, Caporali Leonardo, Amore Giulia, Talozzi Lia, Bianchini Claudio, Testa Claudia, Manners David N, Cortesi Irene, Valentino Maria L, Liguori Rocco, Carelli Valerio, Tonon Caterina, Lodi Raffae |
| Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
| MELAS/LS Overlap Syndrome Associated With Mitochondrial DNA Mutations: Clinical, Genetic, and Radiological Studies. Frontiers in neurology 2021 5 12 648740. Wei Yanping, Huang Yan, Yang Yingmai, Qian M |
| Heteroplasmy and Copy Number in the Common m.3243A>G Mutation-A Post-Mortem Genotype-Phenotype Analysis. Genes 2020 Feb 11 (2): . Scholle Leila Motlagh, Zierz Stephan, Mawrin Christian, Wickenhauser Claudia, Urban Diana Lehma |
| Expanding and validating the biomarkers for mitochondrial diseases. Journal of molecular medicine (Berlin, Germany) 2020 8 98 (10): 1467-1478. Maresca Alessandra, Del Dotto Valentina, Romagnoli Martina, La Morgia Chiara, Di Vito Lidia, Capristo Mariantonietta, Valentino Maria Lucia, Carelli Valerio, |
| Audiological and Vestibular Findings in Subjects with MELAS Syndrome. The journal of international advanced otology 2019 7 15 (2): 296-303. Hougaard Dan Dupont, Hestoy Danial Hofgaard, Hojland Allan Thomas, Gailhede Michael, Petersen Michael Bjo |
| Patients with MELAS with negative myopathology for characteristic ragged-red fibers. Journal of the neurological sciences 2019 11 408 116499. Lu Yuanyuan, Deng Jianwen, Zhao Yuying, Zhang Zhe, Hong Daojun, Yao Sheng, Zhao Danhua, Xie Jie, Fang Hezhi, Yuan Yun, Wang Zhaox |
| Correlation of Serum Biomarkers and Magnetic Resonance Spectroscopy in Monitoring Disease Progression in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Due to mtDNA A3243G Mutation. Frontiers in neurology 2018 8 9 621. Lee Ha Neul, Yoon Choon-Sik, Lee Young-Mo |
| The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Yonsei medical journal 2018 12 60 (1): 98-105. Baek Min Seong, Kim Se Hoon, Lee Young Mo |
| 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 |
| Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study. Mitochondrion 2016 Aug . Tsujikawaa Koyo, Sendaa Joe, Yasui Keizo, Hasegawa Yasuhiro, Hoshiyama Minoru, Katsuno Masahisa, Sobue G |
| Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population. Saudi journal of biological sciences 2015 May 22 (3): 243-8. Khan Imran Ali, Shaik Noor Ahmad, Pasupuleti Nagarjuna, Chava Srinivas, Jahan Parveen, Hasan Qurratulain, Rao Prag |
| 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 |
| Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation. Journal of neurology 2013 Apr 260 (4): 1071-80. Tschampa Henriette J, Urbach Horst, Greschus Susanne, Kunz Wolfram S, Kornblum Cornel |
| High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. Neurology 2013 Jan 80 (1): 100-5. Malfatti Edoardo, Laforêt Pascal, Jardel Claude, Stojkovic Tanya, Behin Anthony, Eymard Bruno, Lombès Anne, Benmalek Amria, Bécane Henri-Marc, Berber Nawal, Meune Christophe, Duboc Denis, Wahbi Kar |
| 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 |
| Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology 2011 Nov 77 (22): 1965-71. Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule D M, Battista V, Koenigsberger D Y, Pascual J M, Shanske S, Sano M, Mao X, Hirano M, Shungu D C, Dimauro S, De Vivo D |
| [Screening of mitochondrial deoxyribonucleic acid 3271T > C, 8356T > C, 9176T > C/G and 13513G > A mutations in mitochondrial encephalomyopathies]. Zhonghua yi xue za zhi 2011 Apr 91 (14): 969-72. Xu Jian-biao, Ma Yi-nan, Pan Hong, Zheng Xue-fei, Zhang Ying, Wang Song-tao, Bu Ding-fang, Qi |
| Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. Archives of neurology 2010 Aug 67 (8): 976-9. Parsons Timothy, Weimer Louis, Engelstad Kristin, Linker Alex, Battista Vanessa, Wei Ying, Hirano Michio, Dimauro Salvatore, De Vivo Darryl C, Kaufmann Pet |
| Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. American journal of medical genetics. Part A 2009 Feb 149A (4): 584-7. Mehrazin Mahsa, Shanske Sara, Kaufmann Petra, Wei Ying, Coku Jorida, Engelstad Kristin, Naini Ali, De Vivo Darryl C, DiMauro Salvato |
| 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 |
| The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. European journal of human genetics : EJHG 2007 Feb 15 (2): 155-61. Ruiter E Mariken, Siers Marloes H, van den Elzen Christa, van Engelen Baziel G, Smeitink Jan A M, Rodenburg Richard J, Hol Frans |
| [Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation]. Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2005 Feb 27 (1): 77-80. Zhang Ying, Wang Zhao-xia, Niu Shu-lan, Xu Yu-feng, Pei Pei, Yuan Yun, Yang Yan-ling, Qi |
| A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance. Acta diabetologica 2004 Dec 41 (4): 179-84. Martin-Kleiner I, Pape-Medvidovi? E, Pavli?-Renar I, Metelko Z, Kusec R, Gabrilovac J, Borani? |
| A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. Italian heart journal : official journal of the Italian Federation of Cardiology 2004 Jun 5 (6): 460-5. Menotti Francesca, Brega Agnese, Diegoli Marta, Grasso Maurizia, Modena Maria Grazia, Arbustini Eloi |
| Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. American journal of human genetics 2003 Apr 72 (4): 1005-12. Torroni Antonio, Campos Yolanda, Rengo Chiara, Sellitto Daniele, Achilli Alessandro, Magri Chiara, Semino Ornella, García Alberto, Jara Pilar, Arenas Joaquín, Scozzari Rosar |
| Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA. Journal of neurology 2003 Feb 250 (2): 216-21. Kärppä Mikko, Syrjälä Pirjo, Tolonen Uolevi, Majamaa Ka |
| Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies. Chinese medical journal 2002 1 114 (12): 1273-5. Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai |
| 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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- Page last updated:Mar 22, 2023
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