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Updates on Mitochondrial Myopathies
Barca, Emanuele, Emmanuele, Valentina
Published in Current neurology and neuroscience reports (04.08.2025)
Published in Current neurology and neuroscience reports (04.08.2025)
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Journal Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy
Vincent, Amy E., Ng, Yi Shiau, White, Kathryn, Davey, Tracey, Mannella, Carmen, Falkous, Gavin, Feeney, Catherine, Schaefer, Andrew M., McFarland, Robert, Gorman, Grainne S., Taylor, Robert W., Turnbull, Doug M., Picard, Martin
Published in Scientific reports (10.08.2016)
Published in Scientific reports (10.08.2016)
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Journal Article
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation
Mancuso, Michelangelo, Orsucci, Daniele, LoGerfo, Annalisa, Rocchi, Anna, Petrozzi, Lucia, Nesti, Claudia, Galetta, Fabio, Santoro, Gino, Murri, Luigi, Siciliano, Gabriele
Published in Journal of neurology (01.05.2010)
Published in Journal of neurology (01.05.2010)
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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
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, Valle, Daniel Almeida do, J. Robinson, Alan, Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, S. F. Santos, Mara Lucia, R. de Souza, Ricardo Lehtonen, Fernandez-Vizarra, Erika, J. Whitworth, Alexander, Zeviani, Massimo
Published in Journal of medical genetics (01.03.2021)
Published in Journal of medical genetics (01.03.2021)
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Journal Article
A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis
Rocha, Mariana C., Grady, John P., Grünewald, Anne, Vincent, Amy, Dobson, Philip F., Taylor, Robert W., Turnbull, Doug M., Rygiel, Karolina A.
Published in Scientific reports (15.10.2015)
Published in Scientific reports (15.10.2015)
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Journal Article
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy
Pacheu-Grau, David, Callegari, Sylvie, Emperador, Sonia, Thompson, Kyle, Aich, Abhishek, Topol, Sarah E, Spencer, Emily G, McFarland, Robert, Ruiz-Pesini, Eduardo, Torkamani, Ali, Taylor, Robert W, Montoya, Julio, Rehling, Peter
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
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Journal Article
Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy
Kabunga, Peter, Lau, Antony K., Phan, Kevin, Puranik, Rajesh, Liang, Christina, Davis, Ryan L., Sue, Carolyn M., Sy, Raymond W.
Published in International journal of cardiology (15.02.2015)
Published in International journal of cardiology (15.02.2015)
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Journal Article
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy
Jeppesen, Tina D., Schwartz, Marianne, Olsen, David B., Wibrand, Flemming, Krag, Thomas, Dunø, Morten, Hauerslev, Simon, Vissing, John
Published in Brain (London, England : 1878) (01.12.2006)
Published in Brain (London, England : 1878) (01.12.2006)
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Journal Article
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD)
Chung, Hak, Choi, Dongseok, Gregor, Ashley, Sim, Elaine, Lau, Alison, Black, Danielle, Scanga, Hannah L., Linshinski, Angela, Pennesi, Mark E., Sahel, Jose‐Alain, Nischal, Ken K., Yang, Paul, Everett, Lesley, Vockley, Jerry, Matern, Dietrich, Harding, Cary O., Gillingham, Melanie B.
Published in Journal of inherited metabolic disease (01.07.2025)
Published in Journal of inherited metabolic disease (01.07.2025)
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Journal Article
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
Ronchi, Dario, Di Fonzo, Alessio, Lin, Weiqiang, Bordoni, Andreina, Liu, Changwei, Fassone, Elisa, Pagliarani, Serena, Rizzuti, Mafalda, Zheng, Li, Filosto, Massimiliano, Ferrò, Maria Teresa, Ranieri, Michela, Magri, Francesca, Peverelli, Lorenzo, Li, Hongzhi, Yuan, Yate-Ching, Corti, Stefania, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Shen, Binghui, Comi, Giacomo Pietro
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
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
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
Gillingham, Melanie B., Heitner, Stephen B., Martin, Julie, Rose, Sarah, Goldstein, Amy, El-Gharbawy, Areeg Hassan, Deward, Stephanie, Lasarev, Michael R., Pollaro, Jim, DeLany, James P., Burchill, Luke J., Goodpaster, Bret, Shoemaker, James, Matern, Dietrich, Harding, Cary O., Vockley, Jerry
Published in Journal of inherited metabolic disease (01.11.2017)
Published in Journal of inherited metabolic disease (01.11.2017)
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Journal Article
Lactate metabolism during exercise in patients with mitochondrial myopathy
Jeppesen, Tina D., Orngreen, Mette C., Van Hall, Gerrit, Vissing, John
Published in Neuromuscular disorders : NMD (01.08.2013)
Published in Neuromuscular disorders : NMD (01.08.2013)
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Journal Article
Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?
Arbustini, Eloisa, Favalli, Valentina, Narula, Nupoor, Serio, Alessandra, Grasso, Maurizia
Published in Journal of the American College of Cardiology (30.08.2016)
Published in Journal of the American College of Cardiology (30.08.2016)
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Journal Article
Impaired oxygen extraction in metabolic myopathies: Detection and quantification by near-infrared spectroscopy
Grassi, Bruno, Marzorati, Mauro, Lanfranconi, Francesca, Ferri, Alessandra, Longaretti, Miriam, Stucchi, Andrea, Vago, Paola, Marconi, Claudio, Morandi, Lucia
Published in Muscle & nerve (01.04.2007)
Published in Muscle & nerve (01.04.2007)
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Journal Article
Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy
Delaney, Nigel F., Sharma, Rohit, Tadvalkar, Laura, Clish, Clary B., Haller, Ronald G., Mootha, Vamsi K.
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (01.08.2017)
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Journal Article