Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Syndrome and POLG[original query] |
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Polymerase ? gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology (Baltimore, Md.) 2010 Nov 52 (5): 1791-6. Stewart Joanna D, Horvath Rita, Baruffini Enrico, Ferrero Iliana, Bulst Stefanie, Watkins Paul B, Fontana Robert J, Day Christopher P, Chinnery Patrick |
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 |
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Developmental medicine and child neurology 2012 Dec 54 (12): 1144-8. Appenzeller Silke, Helbig Ingo, Stephani Ulrich, Häusler Martin, Kluger Gerhard, Bungeroth May, Müller Stefanie, Kuhlenbäumer Gregor, van Baalen Andre |
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 2016 Jan . Bindu Parayil Sankaran, Govindaraju C, Sonam Kothari, Nagappa Madhu, Shwetha Chiplunkar, Kumar Rakesh, Gayathri N, Srinivas Bharath M M, Arvinda Hanumanthapura R, Sinha Sanjib, Khan Nahid Akthar, Govindaraj P, Nunia Vandana, Paramsivam A, Thangaraj K, Taly Arun |
The presence of anaemia negatively influences survival in patients with POLG disease. Journal of inherited metabolic disease 2017 9 40 (6): 861-866. Hikmat Omar, Tzoulis Charalampos, Klingenberg Claus, Rasmussen Magnhild, Tallaksen Chantal M E, Brodtkorb Eylert, Fiskerstrand Torunn, McFarland Robert, Rahman Shamima, Bindoff Laurence |
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 |
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. Mitochondrion 2018 11 47 179-187. Piekutowska-Abramczuk Dorota, Kaliszewska Magdalena, Su?ek Anna, Jurkowska Natalia, O?tarzewski Mariusz, Jab?o?ska Ewa, Trubicka Joanna, G?owacka Aleksandra, Ciara El?bieta, Kowalski Pawe?, Langiewicz-Wojciechowska Karolina, Tesarova Marketa, Zeman Jiri, Kierdaszuk Biruta, Kuczy?ski Dariusz, Chmielewski Dariusz, Szyma?ska Edyta, Baku?a Agnieszka, ?usakowska Anna, Lipowska Marta, Brodacki Bogdan, Pera Joanna, Dorobek Ma?gorzata, Rydzanicz Ma?gorzata, P?oski Rafa?, Chrzanowska Krystyna Halina, Bartnik Ewa, Placha Grzegorz, Kami?ska Anna, Kostera-Pruszczyk Anna, Krajewska-Walasek Ma?gorzata, To?ska Katarzyna, Pronicka E |
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 |
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 |
POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults. Clinical neurology and neurosurgery 2021 1 201 106462. Nuzhnyi Evgenii, Seliverstov Yury, Klyushnikov Sergey, Krylova Tatiana, Tsygankova Polina, Bychkov Igor, Zakharova Ekaterina, Konovalov Rodion, Fedin Pavel, Abramycheva Natalia, Illarioshkin Serg |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
Astrocytic pathology in Alpers' syndrome. Acta neuropathologica communications 2023 5 11 (1): 86. Laura A Smith, Chun Chen, Nichola Z Lax, Robert W Taylor, Daniel Erskine, Robert McFarla |
The Y831C Mutation of the POLG Gene in Dementia. Biomedicines 2023 5 11 (4): . Eugenia Borgione, Mariangela Lo Giudice, Sandro Santa Paola, Marika Giuliano, Giuseppe Lanza, Mariagiovanna Cantone, Raffaele Ferri, Carmela Scude |
Linking pathogenic and likely pathogenic gene variants to long-COVID symptoms. European review for medical and pharmacological sciences 2023 12 27 (6 Suppl): 20-32. C Micheletti, M C Medori, K Dhuli, P E Maltese, S Cecchin, G Bonetti, F Fioretti, L Assoni, A Calzoni, A Praderio, M G De Angelis, K Donato, G Arabia, L Lorusso, P Manganotti, E Capelli, G Marceddu, M Bertelli, S Noda |
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