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Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions
Marchet, Silvia, Legati, Andrea, Nasca, Alessia, Di Meo, Ivano, Spagnolo, Manuela, Zanetti, Nadia, Lamantea, Eleonora, Catania, Alessia, Lamperti, Costanza, Ghezzi, Daniele
Published in Human mutation (01.10.2020)
Published in Human mutation (01.10.2020)
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Journal Article
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
Elander, Johanna, McCormick, Elizabeth M., Värendh, Maria, Stenfeldt, Karin, Ganetzky, Rebecca D., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, MacMullen, Laura E., Xiao, Rui, Falk, Marni J., Ehinger, Johannes K.
Published in Molecular genetics and metabolism (01.11.2022)
Published in Molecular genetics and metabolism (01.11.2022)
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Journal Article
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy
Pirinen, Eija, Auranen, Mari, Khan, Nahid A., Brilhante, Virginia, Urho, Niina, Pessia, Alberto, Hakkarainen, Antti, Kuula, Juho, Heinonen, Ulla, Schmidt, Mark S., Haimilahti, Kimmo, Piirilä, Päivi, Lundbom, Nina, Taskinen, Marja-Riitta, Brenner, Charles, Velagapudi, Vidya, Pietiläinen, Kirsi H., Suomalainen, Anu
Published in Cell metabolism (02.06.2020)
Published in Cell metabolism (02.06.2020)
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Journal Article
Lewy body pathology is associated with mitochondrial DNA damage in Parkinson's disease
Müller, Sarina K., Bender, Andreas, Laub, Christoph, Högen, Tobias, Schlaudraff, Falk, Liss, Birgit, Klopstock, Thomas, Elstner, Matthias
Published in Neurobiology of aging (01.09.2013)
Published in Neurobiology of aging (01.09.2013)
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Journal Article
Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscle
Pesce, Vito, Cormio, Antonella, Fracasso, Flavio, Vecchiet, Jacopo, Felzani, Giorgio, Lezza, Angela M.S, Cantatore, Palmiro, Gadaleta, Maria Nicola
Published in Free radical biology & medicine (01.06.2001)
Published in Free radical biology & medicine (01.06.2001)
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Journal Article
A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H
Bisceglia, Luigi, Zoccolella, Stefano, Torraco, Alessandra, Piemontese, Maria Rosaria, Dell'Aglio, Rosa, Amati, Angela, De Bonis, Patrizia, Artuso, Lucia, Copetti, Massimiliano, Santorelli, Filippo Maria, Serlenga, Luigi, Zelante, Leopoldo, Bertini, Enrico, Petruzzella, Vittoria
Published in European journal of human genetics : EJHG (01.06.2010)
Published in European journal of human genetics : EJHG (01.06.2010)
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Journal Article
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
Bris, Celine, Goudenège, David, Desquiret-Dumas, Valerie, Gueguen, Naig, Bannwarth, Sylvie, Gaignard, Pauline, Rucheton, Benoit, Trimouille, Aurelien, Allouche, Stephane, Rouzier, Cecile, Saadi, Samira, Jardel, Claude, Slama, Abdel, Barth, Magalie, Verny, Christophe, Spinazzi, Marco, Cassereau, Julien, Colin, Estelle, Armelle, Magot, Pereon, Yann, Martin-Negrier, Marie Laure, Paquis-Flucklinger, Veronique, Letournel, Franck, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia, Procaccio, Vincent
Published in Genetics in medicine (01.09.2021)
Published in Genetics in medicine (01.09.2021)
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Journal Article
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia
Yu-Wai-Man, Cynthia, Smith, Fiona E., Firbank, Michael J., Guthrie, Grant, Guthrie, Stuart, Gorman, Grainne S., Taylor, Robert W., Turnbull, Douglass M., Griffiths, Philip G., Blamire, Andrew M., Chinnery, Patrick F., Yu-Wai-Man, Patrick
Published in PloS one (27.09.2013)
Published in PloS one (27.09.2013)
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Journal Article
Lymphocytic mitochondrial DNA deletions, biochemical folate status and hepatocellular carcinoma susceptibility in a case–control study
Wu, Meng-Ying, Kuo, Chang-Sheng, Lin, Ching-Yih, Lu, Chin-Li, Syu Huang, Rwei-Fen
Published in British journal of nutrition (14.09.2009)
Published in British journal of nutrition (14.09.2009)
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Journal Article
Potential Diagnostic and Prognostic Value of Lymphocytic Mitochondrial DNA Deletion in Relation to Folic Acid Status in HCV-Related Hepatocellular Carcinoma
Zekri, Abdel Rahman N, Salama, Hosny, Medhat, Eman, Hamdy, Sherif, Hassan, Zeinab K, Bakr, Yasser Mabrouk, Youssef, Amira Salah El - Din, Saleh, Doaa, Saeed, Ramy, Omran, Dalia
Published in Asian Pacific journal of cancer prevention : APJCP (27.09.2017)
Published in Asian Pacific journal of cancer prevention : APJCP (27.09.2017)
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Journal Article
Insulin dependant diabetes mellitus: implications for male reproductive function
Agbaje, I.M., Rogers, D.A., McVicar, C.M., McClure, N., Atkinson, A.B., Mallidis, C., Lewis, S.E.M.
Published in Human reproduction (Oxford) (01.07.2007)
Published in Human reproduction (Oxford) (01.07.2007)
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Journal Article
Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing
Liu, Vincent W. S., Zhang, Chunfang, Nagley, Phillip
Published in Nucleic acids research (01.03.1998)
Published in Nucleic acids research (01.03.1998)
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Journal Article
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Journal Article
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce, Ennes, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D. S., Saneto, Russekk, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L. K., Vissing, John, Vockley, Jerry, Finman, Jeffrey S., Abbruscato, Anthony, Brown, David A., Sullivan, Alana, Shiffer, James A., Mancuso, Michelango
Published in Orphanet journal of rare diseases (21.11.2024)
Published in Orphanet journal of rare diseases (21.11.2024)
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Journal Article
POLRMT mutations impair mitochondrial transcription causing neurological disease
Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., Taylor, Robert W.
Published in Nature communications (18.02.2021)
Published in Nature communications (18.02.2021)
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Journal Article