Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: Syndrome and MELAS[original query] |
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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 |
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 |
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 |
[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? |
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 |
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 |
Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases. Biochemical and biophysical research communications 2007 Apr 355 (4): 1031-7. Mkaouar-Rebai Emna, Tlili Abdelaziz, Masmoudi Saber, Belguith Neila, Charfeddine Ilhem, Mnif Mouna, Triki Chahnez, Fakhfakh Fai |
[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 |
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 |
[Audiologic features of mitochondrial DNA A3243G mutation and its correlation with mutation rate]. Zhonghua yi xue za zhi 2012 Oct 92 (40): 40. Xue JF, Chen L, Ma YN, Zhao DH, Duan JB, Wang ZX, Qi Y, Liu YH |
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 |
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 |
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 |
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 |
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, |
A novel m.11406 T > A mutation in mitochondrial ND4 gene causes MELAS syndrome. Mitochondrion 2020 7 54 57-64. Lin Yan, Xu Xuebi, Zhao Dandan, Liu Fuchen, Luo Yuebei, Du Jixiang, Wang Dongdong, Ji Kunqian, Zhao Yuying, Yan Chuanz |
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China. European journal of medical genetics 2020 4 63 (8): 103898. Hu Chaoping, Li Xihua, Zhao Lei, Shi Yiyun, Zhou Shuizhen, Wu Bingbing, Wang |
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 |
Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia. Journal of the Formosan Medical Association = Taiwan yi zhi 2023 6 . Nai-Yi Liao, Kuan-Lin Lai, Yi-Chu Liao, Cheng-Tsung Hsiao, Yi-Chung L |
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation. Neuroradiology 2023 12 . María Paz Guerrero-Molina, Ángela Bernabeu-Sanz, Ana Ramos-González, Montserrat Morales-Conejo, Aitor Delmiro, Cristina Domínguez-González, Joaquín Arenas, Miguel A Martín, Jesús González de la Ale |
[Epilepsy syndromes associated with hearing loss]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2023 1 123 (1): 28-33. Burd S G, Lebedeva A V, Rubleva Yu V, Pantina N V, Yurchenko A V, Bogomazova M A, Kovaleva I I, Karchevskaya A |
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