Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Mitochondrial Diseases and POLG[original query] |
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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 |
What is influencing the phenotype of the common homozygous polymerase-? mutation p.Ala467Thr? Brain : a journal of neurology 2012 Dec 135 (Pt 12): Pt 12. Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R |
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. Journal of inherited metabolic disease 2018 7 41 (6): 1147-1158. Batllori Marta, Molero-Luis Marta, Ormazabal Aida, Montero Raquel, Sierra Cristina, Ribes Antonia, Montoya Julio, Ruiz-Pesini Eduardo, O'Callaghan Mar, Pias Leticia, Nascimento Andrés, Palau Francesc, Armstrong Judith, Yubero Delia, Ortigoza-Escobar Juan D, García-Cazorla Angels, Artuch Rafa |
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. Mitochondrion 2018 2 45 22-28. Masingue Marion, Adanyeguh Isaac, Tchikviladzé Maya, Maisonobe Thierry, Jardel Claude, Galanaud Damien, Mochel Fan |
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. Journal of clinical pathology 2020 10 75 (1): 34-38. Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tra |
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 |
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis. Scientific reports 2023 3 13 (1): 4193. Wu Teng-Hui, Peng Jing, Yang Li, Chen Yan-Hui, Lu Xiu-Lan, Huang Jiao-Tian, You Jie-Yu, Ou-Yang Wen-Xian, Sun Yue-Yu, Xue Yi-Nan, Mao Xiao, Yan Hui-Ming, Ren Rong-Na, Xie Jing, Chen Zhi-Heng, Zhang Victor-Wei, Lyu Gui-Zhen, He Fa |
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