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Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease
Boczonadi, Veronika, King, Martin S, Smith, Anthony C, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G, Pyle, Angela, Griffin, Helen, Taylor, Robert W, Chinnery, Patrick F, Robinson, Alan J, Kunji, Edmund R S, Horvath, Rita
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Published in Journal of medical genetics (01.09.2012)
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Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Husain, Ralf A, Jiao, Xinfu, Hennings, J Christopher, Giesecke, Jan, Palsule, Geeta, Beck-Wödl, Stefanie, Osmanović, Dina, Bjørgo, Kathrine, Mir, Asif, Ilyas, Muhammad, Abbasi, Saad M, Efthymiou, Stephanie, Dominik, Natalia, Maroofian, Reza, Houlden, Henry, Rankin, Julia, Pagnamenta, Alistair T, Nashabat, Marwan, Altwaijri, Waleed, Alfadhel, Majid, Umair, Muhammad, Khouj, Ebtissal, Reardon, William, El-Hattab, Ayman W, Mekki, Mohammed, Houge, Gunnar, Beetz, Christian, Bauer, Peter, Putoux, Audrey, Lesca, Gaetan, Sanlaville, Damien, Alkuraya, Fowzan S, Taylor, Robert W, Mentzel, Hans-Joachim, Hübner, Christian A, Huppke, Peter, Hart, Ronald P, Haack, Tobias B, Kiledjian, Megerditch, Rubio, Ignacio
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Lee, Grace Sanghee, Salazar, Hector F., Joseph, Giji, Lok, Zoe Shin Yee, Caroti, Courtney M., Weiss, Daiana, Taylor, W. Robert, Lyle, Alicia N.
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Published in Laboratory investigation (01.03.2019)
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Wilson, Ian J, Carling, Phillipa J, Alston, Charlotte L, Floros, Vasileios I, Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C E H, Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A, Samuels, David C, Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W, Smeets, Hubert J M, Horvath, Rita, Chinnery, Patrick F
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Krishnan, Kim J, Reeve, Amy K, Samuels, David C, Chinnery, Patrick F, Blackwood, John K, Taylor, Robert W, Wanrooij, Sjoerd, Spelbrink, Johannes N, Lightowlers, Robert N, Turnbull, Doug M
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Published in Nature genetics (01.03.2008)
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Joshi, Pushpa Raj, Baty, Karen, Hopton, Sila, Cordts, Isabell, Falkous, Gavin, Schoser, Benedikt, Blakely, Emma L., Taylor, Robert W., Deschauer, Marcus
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MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast
Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W., Melchionda, Laura, Blakely, Emma L., Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P., Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M., Haack, Tobias B., Prokisch, Holger, Taylor, Robert W., Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
Published in Human mutation (01.11.2013)
Published in Human mutation (01.11.2013)
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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Lim, Albert Z., McMacken, Grace, Rastelli, Francesca, Oláhová, Monika, Baty, Karen, Hopton, Sila, Falkous, Gavin, Töpf, Ana, Lochmüller, Hanns, Marini-Bettolo, Chiara, McFarland, Robert, Taylor, Robert W.
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Published in Neuromuscular disorders : NMD (01.08.2020)
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