Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-like Episodes[original query] |
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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 |
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 225-30. Singh Rinki, Ellard Sian, Hattersley Andrew, Harries Lorna |
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. The Journal of molecular diagnostics : JMD 2006 May 8 (2): 277-81. Fan Hongxin, Civalier Chris, Booker Jessica K, Gulley Margaret L, Prior Thomas W, Farber Rosann |
[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 |
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 |
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 |
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, |
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 |
Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNA Gene. Molecular syndromology 2022 9 13 (4): 305-317. Mara? Genç Hülya, Akp?nar Gürler, Kasap Murat, Uyur Yalç?n Emek, Üstek Duran, Aslanger Ayça Dilruba, Kara Büle |
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 |
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- Page last updated:Apr 29, 2024
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