Defective mitochondrial protease LonP1 can cause classical mitochondrial disease by Peter, Bradley, Waddington, Christie L, Oláhová, Monika, Sommerville, Ewen W, Hopton, Sila, Pyle, Angela, Champion, Michael, Ohlson, Monica, Siibak, Triinu, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Falkenberg, Maria, Lightowlers, Robert N

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Characterization of the BspA and Pmp protein family of trichomonads by Handrich, Maria R, Garg, Sriram G, Sommerville, Ewen W, Hirt, Robert P, Gould, Sven B

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy by Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W

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Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA by Nicholls, Thomas J., Nadalutti, Cristina A., Motori, Elisa, Sommerville, Ewen W., Gorman, Gráinne S., Basu, Swaraj, Hoberg, Emily, Turnbull, Doug M., Chinnery, Patrick F., Larsson, Nils-Göran, Larsson, Erik, Falkenberg, Maria, Taylor, Robert W., Griffith, Jack D., Gustafsson, Claes M.

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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy by Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis by Shintaku, Jonathan, Pernice, Wolfgang M, Eyaid, Wafaa, Gc, Jeevan B, Brown, Zuben P, Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W, Hellebrekers, Debby Mei, Blakely, Emma L, Donaldson, Alan, van de Laar, Ingrid Mbh, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A, Rodenburg, Richard J, Chinnery, Patrick F, Smeets, H J M, Gorman, Gráinne S, Bonnen, Penelope E, Taylor, Robert W, Hirano, Michio

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Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance by Sommerville, Ewen W., Dalla Rosa, Ilaria, Rosenberg, Masha M., Bruni, Francesco, Thompson, Kyle, Rocha, Mariana, Blakely, Emma L., He, Langping, Falkous, Gavin, Schaefer, Andrew M., Yu‐Wai‐Man, Patrick, Chinnery, Patrick F., Hedstrom, Lizbeth, Spinazzola, Antonella, Taylor, Robert W., Gorman, Gráinne S.

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Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features by Oliveira, Renata, Sommerville, Ewen W., Thompson, Kyle, Nunes, Joana, Pyle, Angela, Grazina, Manuela, Chinnery, Patrick F., Diogo, Luísa, Garcia, Paula, Taylor, Robert W.

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De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities by Sommerville, Ewen W, Alston, Charlotte L, Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F, McFarland, Robert, Taylor, Robert W

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Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia by Sommerville, Ewen W, Jones, Rachel L, Hardy, Steven A, Blakely, Emma L, Pyle, Angela, Schaefer, Andrew M, Chinnery, Patrick F, Turnbull, Douglass M, Gorman, Gráinne S, Taylor, Robert W

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POLRMT mutations impair mitochondrial transcription causing neurological disease by 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.

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RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis by Shintaku, Jonathan, Pernice, Wolfgang M, Eyaid, Wafaa, Jeevan, B G C, Brown, Zuben P, Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W, Hellebrekers, Debby Mei, Blakely, Emma L, Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A, Rodenburg, Richard J, Chinnery, Patrick F, Smeets, H J M, Gorman, Gráinne S, Bonnen, Penelope E, Taylor, Robert W, Hirano, Michio

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