Defective mitochondrial protease LonP1 can cause classical mitochondrial disease
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
Published in Human molecular genetics (15.05.2018)
Published in Human molecular genetics (15.05.2018)
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Journal Article
Characterization of the BspA and Pmp protein family of trichomonads
Handrich, Maria R, Garg, Sriram G, Sommerville, Ewen W, Hirt, Robert P, Gould, Sven B
Published in Parasites & vectors (19.08.2019)
Published in Parasites & vectors (19.08.2019)
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Journal Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
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
Published in Human molecular genetics (15.01.2019)
Published in Human molecular genetics (15.01.2019)
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Journal Article
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA
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.
Published in Molecular cell (04.01.2018)
Published in Molecular cell (04.01.2018)
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Journal Article
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
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
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency
Keshavan, Nandaki, Abdenur, Jose, Anderson, Glenn, Assouline, Zahra, Barcia, Giulia, Bouhikbar, Lamia, Chakrapani, Anupam, Cleary, Maureen, Cohen, Marta C., Feillet, François, Fratter, Carl, Hauser, Natalie, Jacques, Tom, Lam, Amanda, McCullagh, Helen, Phadke, Rahul, Rötig, Agnès, Sharrard, Mark, Simon, Mariella, Smith, Conrad, Sommerville, Ewen W., Taylor, Robert W., Yue, Wyatt W., Rahman, Shamima
Published in Genetics in medicine (2020)
Published in Genetics in medicine (2020)
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Journal Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S
Published in JAMA neurology (01.06.2017)
Published in JAMA neurology (01.06.2017)
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Journal Article
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
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
Published in The Journal of clinical investigation (01.07.2022)
Published in The Journal of clinical investigation (01.07.2022)
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Journal Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance
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.
Published in Clinical genetics (01.02.2020)
Published in Clinical genetics (01.02.2020)
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Journal Article
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features
Oliveira, Renata, Sommerville, Ewen W., Thompson, Kyle, Nunes, Joana, Pyle, Angela, Grazina, Manuela, Chinnery, Patrick F., Diogo, Luísa, Garcia, Paula, Taylor, Robert W.
Published in JIMD Reports, Volume 33 (01.01.2017)
Published in JIMD Reports, Volume 33 (01.01.2017)
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Book Chapter
Journal Article
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities
Sommerville, Ewen W, Alston, Charlotte L, Pyle, Angela, He, Langping, Falkous, Gavin, Naismith, Karen, Chinnery, Patrick F, McFarland, Robert, Taylor, Robert W
Published in Neurology. Genetics (01.10.2017)
Published in Neurology. Genetics (01.10.2017)
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Journal Article
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia
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
Published in Neurology. Genetics (01.12.2017)
Published in Neurology. Genetics (01.12.2017)
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Journal Article
Adult-onset Mendelian PEO Associated with Mitochondrial Disease
Sommerville, Ewen W., Chinnery, Patrick F., Gorman, Gráinne S., Taylor, Robert W.
Published in Journal of Neuromuscular Diseases (2014)
Published in Journal of Neuromuscular Diseases (2014)
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Book Review
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
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis
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
Published in The Journal of clinical investigation (01.07.2022)
Published in The Journal of clinical investigation (01.07.2022)
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Journal Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy
Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S
Published in Archives of neurology (Chicago) (01.06.2017)
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Published in Archives of neurology (Chicago) (01.06.2017)
Journal Article