Human Genome Epidemiology Literature Finder
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Records 1 - 29 (of 29 Records) |
| Query Trace: Disease and MELAS[original query] |
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| Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease. Journal of human genetics 2001 46 (6): 330-4. Iwasaki N, Babazono T, Tsuchiya K, Tomonaga O, Suzuki A, Togashi M, Ujihara N, Sakka Y, Yokokawa H, Ogata M, Nihei H, Iwamoto |
| 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 |
| 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 |
| Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. Pediatrics 2004 Aug 114 (2): 443-50. Uusimaa Johanna, Finnilä Saara, Remes Anne M, Rantala Heikki, Vainionpää Leena, Hassinen Ilmo E, Majamaa Ka |
| 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 |
| 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 |
| MELAS A3243G mitochondrial DNA mutation and age related maculopathy. American journal of ophthalmology 2004 Dec 138 (6): 1051-3. Jones Michael, Mitchell Paul, Wang Jie Jin, Sue Carol |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study. Headache 2017 11 58 (1): 45-52. Kraya Torsten, Deschauer Marcus, Joshi Pushpa Raj, Zierz Stephan, Gaul Char |
| 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 |
| 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 |
| A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues. Mitochondrion 2019 10 50 14-18. Panadés-de Oliveira Luísa, Montoya Julio, Emperador Sonia, Ruiz-Pesini Eduardo, Jericó Ivonne, Arenas Joaquín, Hernández-Lain Aurelio, Blázquez Alberto, Martín Miguel Á, Domínguez-González Cristi |
| 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, |
| 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 |
| Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I. BMC pediatrics 2020 1 20 (1): 41. Danhelovska Tereza, Kolarova Hana, Zeman Jiri, Hansikova Hana, Vaneckova Manuela, Lambert Lukas, Kucerova-Vidrova Vendula, Berankova Kamila, Honzik Tomas, Tesarova Marke |
| 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 |
| 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 |
| 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 |
| 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 |
| NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy. Stroke 2023 3 . Liao Yi-Chu, Wei Cheng-Yu, Chang Fu-Pang, Chou Ying-Tsen, Hsu Shao-Lun, Chung Chih-Ping, Mizuguchi Takeshi, Matsumoto Naomichi, Yet Shaw-Fang, Lee Yi-Chu |
| Heterozygote advantage at HLA class I and II loci and reduced risk of colorectal cancer. Frontiers in immunology 2023 11 14 1268117. Ya-Yu Tsai, Chenxu Qu, Joseph D Bonner, Rebeca Sanz-Pamplona, Sidney S Lindsey, Marilena Melas, Kevin J McDonnell, Gregory E Idos, Christopher P Walker, Kevin K Tsang, Diane M Da Silva, Ferran Moratalla-Navarro, Asaf Maoz, Hedy S Rennert, W Martin Kast, Joel K Greenson, Victor Moreno, Gad Rennert, Stephen B Gruber, Stephanie L Schm |
| Neurological manifestations in adult patients with the m.3243A>G variant in mitochondrial DNA. BMJ neurology open 2024 9 6 (2): e000825. Kari Majamaa, Mikko Kärppä, Jukka S Moilan |
- Page last reviewed:Feb 1, 2024
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