OpenURL Connection Search

Select item for more details and to access through your institution.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Published in:
EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202216775
By:
- Erdinc, Direnis;
- Rodríguez‐Luis, Alejandro;
- Fassad, Mahmoud R;
- Mackenzie, Sarah;
- Watson, Christopher M;
- Valenzuela, Sebastian;
- Xie, Xie;
- Menger, Katja E;
- Sergeant, Kate;
- Craig, Kate;
- Hopton, Sila;
- Falkous, Gavin;
- Poulton, Joanna;
- Garcia‐Moreno, Hector;
- Giunti, Paola;
- de Moura Aschoff, Carlos A;
- Morales Saute, Jonas A;
- Kirby, Amelia J;
- Toro, Camilo;
- Wolfe, Lynne
Publication type:
Article
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Published in:
PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007605
By:
- Handley, Mark T.;
- Reddy, Kaalak;
- Wills, Jimi;
- Rosser, Elisabeth;
- Kamath, Archith;
- Halachev, Mihail;
- Falkous, Gavin;
- Williams, Denise;
- Cox, Phillip;
- Meynert, Alison;
- Raymond, Eleanor S.;
- Morrison, Harris;
- Brown, Stephen;
- Allan, Emma;
- Aligianis, Irene;
- Jackson, Andrew P.;
- Ramsahoye, Bernard H.;
- von Kriegsheim, Alex;
- Taylor, Robert W.;
- Finch, Andrew J.
Publication type:
Article
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 789, doi. 10.3390/jcm8060789
By:
- Zierz, Charlotte M.;
- Baty, Karen;
- Blakely, Emma L.;
- Hopton, Sila;
- Falkous, Gavin;
- Schaefer, Andrew M.;
- Hadjivassiliou, Marios;
- Sarrigiannis, Ptolemaios G.;
- Ng, Yi Shiau;
- Taylor, Robert W.
Publication type:
Article
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Published in:
Scientific Reports, 2016, p. 30610, doi. 10.1038/srep30610
By:
- 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
Publication type:
Article
Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.
Published in:
Clinical Science, 2015, v. 128, n. 12, p. 895, doi. 10.1042/CS20140705
By:
- Gorman, Grainne S.;
- Blakely, Emma L.;
- Hue Tran Hornig Do;
- Tuppen, Helen A. L.;
- Greaves, Laura C.;
- Langping He;
- Baker, Angela;
- Falkous, Gavin;
- Newman, Jane;
- Trenell, Michael I.;
- Lecky, Bryan;
- Petty, Richard K.;
- Turnbull, Doug M.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- 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
Publication type:
Article
Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.
Published in:
Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00024
By:
- Ng, Yi Shiau;
- Thompson, Kyle;
- Loher, Daniela;
- Hopton, Sila;
- Falkous, Gavin;
- Hardy, Steven A.;
- Schaefer, Andrew M.;
- Shaunak, Sandip;
- Roberts, Mark E.;
- Lilleker, James B.;
- Taylor, Robert W.
Publication type:
Article
Correction: Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.
Published in:
2022
By:
- Abouhajar, Alaa;
- Alcock, Lisa;
- Bigirumurame, Theophile;
- Bradley, Penny;
- Brown, Laura;
- Campbell, Ian;
- Del Din, Silvia;
- Faitg, Julie;
- Falkous, Gavin;
- Gorman, Grainne S.;
- Lakey, Rachel;
- McFarland, Robert;
- Newman, Jane;
- Rochester, Lynn;
- Ryan, Vicky;
- Smith, Hesther;
- Steel, Alison;
- Stefanetti, Renae J.;
- Su, Huizhong;
- Taylor, Robert W.
Publication type:
corrected article
Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy.
Published in:
2022
By:
- Abouhajar, Alaa;
- Alcock, Lisa;
- Bigirumurame, Theophile;
- Bradley, Penny;
- Brown, Laura;
- Campbell, Ian;
- Del Din, Sylvia;
- Faitg, Julie;
- Falkous, Gavin;
- Gorman, Gráinne S.;
- Lakey, Rachel;
- McFarland, Robert;
- Newman, Jane;
- Rochester, Lynn;
- Ryan, Vicky;
- Smith, Hesther;
- Steel, Alison;
- Stefanetti, Renae J.;
- Su, Huizhong;
- Taylor, Robert W.
Publication type:
journal article
Disease progression in patients with single, large-scale mitochondrial DNA deletions.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 323, doi. 10.1093/brain/awt321
By:
- Grady, John P.;
- Campbell, Georgia;
- Ratnaike, Thiloka;
- Blakely, Emma L.;
- Falkous, Gavin;
- Nesbitt, Victoria;
- Schaefer, Andrew M.;
- McNally, Richard J.;
- Gorman, Grainne S.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- McFarland, Robert
Publication type:
Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
Published in:
Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
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.
Publication type:
Article
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
Published in:
2018
By:
- Vincent, Amy E.;
- Rosa, Hannah S.;
- Pabis, Kamil;
- Lawless, Conor;
- Chen, Chun;
- Grünewald, Anne;
- Rygiel, Karolina A.;
- Rocha, Mariana C.;
- Reeve, Amy K.;
- Falkous, Gavin;
- Perissi, Valentina;
- White, Kathryn;
- Davey, Tracey;
- Petrof, Basil J.;
- Sayer, Avan A.;
- Cooper, Cyrus;
- Deehan, David;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- Picard, Martin
Publication type:
journal article
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
By:
- Schober, Florian A;
- Tang, Jia Xin;
- Sergeant, Kate;
- Moedas, Marco F;
- Zierz, Charlotte M;
- Moore, David;
- Smith, Conrad;
- Lewis, David;
- Guha, Nishan;
- Hopton, Sila;
- Falkous, Gavin;
- Lam, Amanda;
- Pyle, Angela;
- Poulton, Joanna;
- Gorman, Gráinne S;
- Taylor, Robert W;
- Freyer, Christoph;
- Wredenberg, Anna
Publication type:
Article
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-41483-9
By:
- Perli, Elena;
- Pisano, Annalinda;
- Glasgow, Ruth I. C.;
- Carbo, Miriam;
- Hardy, Steven A.;
- Falkous, Gavin;
- He, Langping;
- Cerbelli, Bruna;
- Pignataro, Maria Gemma;
- Zacara, Elisabetta;
- Re, Federica;
- Della Monica, Paola Lilla;
- Morea, Veronica;
- Bonnen, Penelope E.;
- Taylor, Robert W.;
- d’Amati, Giulia;
- Giordano, Carla
Publication type:
Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Published in:
European Heart Journal, 2016, v. 37, n. 32, p. 2552, doi. 10.1093/eurheartj/ehv306
By:
- Yi Shiau Ng;
- Grady, John P.;
- Lax, Nichola Z.;
- Bourke, John P.;
- Alston, Charlotte L.;
- Hardy, Steven A.;
- Falkous, Gavin;
- Schaefer, Andrew G.;
- Radunovic, Aleksandar;
- Mohiddin, Saidi A.;
- Ralph, Matilda;
- Alhakim, Ali;
- Taylor, Robert W.;
- McFarland, Robert;
- Turnbull, Douglass M.;
- Gorman, Gráinne S.
Publication type:
Article
Oxidative damage to protein in sporadic motor neuron disease spinal cord.
Published in:
Annals of Neurology, 1995, v. 38, n. 4, p. 691, doi. 10.1002/ana.410380424
By:
- Shaw, Pamela J.;
- Ince, Paul G.;
- Falkous, Gavin;
- Mantle, David
Publication type:
Article
Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.
Published in:
Pulmonary Circulation, 2018, v. 8, n. 2, p. 1, doi. 10.1177/2045894018768290
By:
- Sithamparanathan, Sasiharan;
- Rocha, Mariana C.;
- Parikh, Jehill D.;
- Rygiel, Karolina A.;
- Falkous, Gavin;
- Grady, John P.;
- Hollingsworth, Kieren G.;
- Trenell, Michael I.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- Gorman, Gráinne S.;
- Corris, Paul A.
Publication type:
Article

Found: 17