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An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy by Luis R. Lopes, William L. Macken, Seth Du Preez, Huafrin Kotwal, Konstantinos Savvatis, Neha Sekhri, Saidi A. Mohiddin, Renata Kabiljo, Robert D. S. Pitceathly
Published 2024-12-01Get full text
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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. by Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Published 2016-01-01Get full text
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Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial by Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators
Published 2024-11-01Get full text
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