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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
By:
- Alahmad, Ahmad;
- Nasca, Alessia;
- Heidler, Juliana;
- Thompson, Kyle;
- Oláhová, Monika;
- Legati, Andrea;
- Lamantea, Eleonora;
- Meisterknecht, Jana;
- Spagnolo, Manuela;
- He, Langping;
- Alameer, Seham;
- Hakami, Fahad;
- Almehdar, Abeer;
- Ardissone, Anna;
- Alston, Charlotte L;
- McFarland, Robert;
- Wittig, Ilka;
- Ghezzi, Daniele;
- Taylor, Robert W
Publication type:
Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708262
By:
- Grady, John P.;
- Pickett, Sarah J.;
- Ng, Yi Shiau;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Hardy, Steven A.;
- Feeney, Catherine L.;
- Bright, Alexandra A.;
- Schaefer, Andrew M.;
- Gorman, Gráinne S.;
- McNally, Richard J. Q.;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- McFarland, Robert
Publication type:
Article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Published in:
2015
By:
- Oláhová, Monika;
- Hardy, Steven A.;
- Hall, Julie;
- Yarham, John W.;
- Haack, Tobias B.;
- Wilson, William C.;
- Alston, Charlotte L.;
- He, Langping;
- Aznauryan, Erik;
- Brown, Ruth M.;
- Brown, Garry K.;
- Morris, Andrew A. M.;
- Mundy, Helen;
- Broomfield, Alex;
- Barbosa, Ines A.;
- Simpson, Michael A.;
- Deshpande, Charu;
- Moeslinger, Dorothea;
- Koch, Johannes;
- Stettner, Georg M.
Publication type:
journal article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Published in:
Journal of Pathology, 2021, v. 254, n. 4, p. 430, doi. 10.1002/path.5641
By:
- Alston, Charlotte L.;
- Stenton, Sarah L.;
- Hudson, Gavin;
- Prokisch, Holger;
- Taylor, Robert W.
Publication type:
Article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines.
Published in:
Journal of Pathology, 2021, v. 254, n. 3, p. 430, doi. 10.1002/path.5641
By:
- Alston, Charlotte L;
- Stenton, Sarah L;
- Hudson, Gavin;
- Prokisch, Holger;
- Taylor, Robert W
Publication type:
Article
The genetics and pathology of mitochondrial disease.
Published in:
Journal of Pathology, 2017, v. 241, n. 2, p. 236, doi. 10.1002/path.4809
By:
- Alston, Charlotte L;
- Rocha, Mariana C;
- Lax, Nichola Z;
- Turnbull, Doug M;
- Taylor, Robert W
Publication type:
Article
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01019-9
By:
- Yépez, Vicente A.;
- Gusic, Mirjana;
- Kopajtich, Robert;
- Mertes, Christian;
- Smith, Nicholas H.;
- Alston, Charlotte L.;
- Ban, Rui;
- Beblo, Skadi;
- Berutti, Riccardo;
- Blessing, Holger;
- Ciara, Elżbieta;
- Distelmaier, Felix;
- Freisinger, Peter;
- Häberle, Johannes;
- Hayflick, Susan J.;
- Hempel, Maja;
- Itkis, Yulia S.;
- Kishita, Yoshihito;
- Klopstock, Thomas;
- Krylova, Tatiana D.
Publication type:
Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
By:
- Fitzsimons, Patricia E.;
- Alston, Charlotte L.;
- Bonnen, Penelope E.;
- Hughes, Joanne;
- Crushell, Ellen;
- Geraghty, Michael T.;
- Tetreault, Martine;
- O'Reilly, Peter;
- Twomey, Eilish;
- Sheikh, Yusra;
- Walsh, Richard;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Taylor, Robert W.;
- Pitt, James J.;
- Mayne, Philip D.
Publication type:
Article
The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.
Published in:
Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297
By:
- Hall, Andrew M;
- Vilasi, Annalisa;
- Garcia-Perez, Isabel;
- Lapsley, Marta;
- Alston, Charlotte L;
- Pitceathly, Robert D S;
- McFarland, Robert;
- Schaefer, Andrew M;
- Turnbull, Doug M;
- Beaumont, Nick J;
- Hsuan, Justin J;
- Cutillas, Pedro R;
- Lindon, John C;
- Holmes, Elaine;
- Unwin, Robert J;
- Taylor, Robert W;
- Gorman, Grainne S;
- Rahman, Shamima;
- Hanna, Michael G
Publication type:
Article
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Published in:
Genome Biology, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13059-020-02138-5
By:
- Lujan, Scott A.;
- Longley, Matthew J.;
- Humble, Margaret H.;
- Lavender, Christopher A.;
- Burkholder, Adam;
- Blakely, Emma L.;
- Alston, Charlotte L.;
- Gorman, Grainne S.;
- Turnbull, Doug M.;
- McFarland, Robert;
- Taylor, Robert W.;
- Kunkel, Thomas A.;
- Copeland, William C.
Publication type:
Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Published in:
2018
By:
- Repp, Birgit M.;
- Mastantuono, Elisa;
- Alston, Charlotte L.;
- Schiff, Manuel;
- Haack, Tobias B.;
- Rötig, Agnes;
- Ardissone, Anna;
- Lombès, Anne;
- Catarino, Claudia B.;
- Diodato, Daria;
- Schottmann, Gudrun;
- Poulton, Joanna;
- Burlina, Alberto;
- Jonckheere, An;
- Munnich, Arnold;
- Rolinski, Boris;
- Ghezzi, Daniele;
- Rokicki, Dariusz;
- Wellesley, Diana;
- Martinelli, Diego
Publication type:
journal article
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Published in:
Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 500, doi. 10.1111/j.1469-8749.2012.04224.x
By:
- NESBITT, VICTORIA;
- MORRISON, PATRICK J;
- CRUSHELL, ELLEN;
- DONNELLY, DEIRDRE E;
- ALSTON, CHARLOTTE L;
- HE, LANGPING;
- MCFARLAND, ROBERT;
- TAYLOR, ROBERT W
Publication type:
Article
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 7, p. 935, doi. 10.1038/ejhg.2014.214
By:
- Oláhová, Monika;
- Haack, Tobias B;
- Alston, Charlotte L;
- Houghton, Jessica AC;
- He, Langping;
- Morris, Andrew AM;
- Brown, Garry K;
- McFarland, Robert;
- Chrzanowska-Lightowlers, Zofia MA;
- Lightowlers, Robert N;
- Prokisch, Holger;
- Taylor, Robert W
Publication type:
Article
A national perspective on prenatal testing for mitochondrial disease.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
By:
- Nesbitt, Victoria;
- Alston, Charlotte L;
- Blakely, Emma L;
- Fratter, Carl;
- Feeney, Catherine L;
- Poulton, Joanna;
- Brown, Garry K;
- Turnbull, Doug M;
- Taylor, Robert W;
- McFarland, Robert
Publication type:
Article
Maternally inherited mitochondrial DNA disease in consanguineous families.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124
By:
- Alston, Charlotte L;
- He, Langping;
- Morris, Andrew A;
- Hughes, Imelda;
- Goede, Christian de;
- Turnbull, Douglass M;
- McFarland, Robert;
- Taylor, Robert W
Publication type:
Article
Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.
Published in:
Life Science Alliance, 2022, v. 5, n. 12, p. 1, doi. 10.26508/lsa.202101284
By:
- Nolden, Kelsey A.;
- Egner, John M.;
- Collier, Jack J.;
- Russell, Oliver M.;
- Alston, Charlotte L.;
- Harwig, Megan C.;
- Widlansky, Michael E.;
- Sasorith, Souphatta;
- Barbosa, Inês A.;
- Douglas, Andrew G. L.;
- Baptista, Julia;
- Walker, Mark;
- Donnelly, Deirdre E.;
- Morris, Andrew A.;
- Hui Jeen Tan;
- Kurian, Manju A.;
- Gorman, Kathleen;
- Mordekar, Santosh;
- Deshpande, Charu;
- Samanta, Rajib
Publication type:
Article
Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 54, n. 1, p. 45, doi. 10.1002/jmd2.12107
By:
- Cotta, Ana;
- Alston, Charlotte L.;
- Baptista‐Junior, Sidney;
- Paim, Julia F.;
- Carvalho, Elmano;
- Navarro, Monica M.;
- Appleton, Marie;
- Ng, Yi Shiau;
- Valicek, Jaquelin;
- da‐Cunha‐Junior, Antonio L.;
- Lima, Maria I.;
- Rocque Ferreira, Alessandra;
- Takata, Reinaldo I.;
- Hargreaves, Iain P.;
- Gorman, Gráinne S.;
- McFarland, Robert;
- Pierre, Germaine;
- 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
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Published in:
JAMA Neurology, 2016, v. 73, n. 6, p. 668, doi. 10.1001/jamaneurol.2016.0355
By:
- Martikainen, Mika H.;
- Yi Shiau Ng;
- Gorman, Gráinne S.;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Schaefer, Andrew M.;
- Chinnery, Patrick F.;
- Burn, David J.;
- Taylor, Robert W.;
- McFarland, Robert;
- Turnbull, Doug M.
Publication type:
Article
Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy.
Published in:
JAMA Neurology, 2013, v. 70, n. 12, p. 1552, doi. 10.1001/jamaneurol.2013.4111
By:
- Spyropoulos, Achilles;
- Manford, Mark;
- Horvath, Rita;
- Alston, Charlotte L.;
- Yu-Wai-Man, Patrick;
- Langping He;
- Taylor, Robert W.;
- Chinnery, Patrick F.
Publication type:
Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
By:
- Pfeffer, Gerald;
- Gorman, Gráinne S;
- Griffin, Helen;
- Kurzawa-Akanbi, Marzena;
- Blakely, Emma L.;
- Wilson, Ian;
- Sitarz, Kamil;
- Moore, David;
- Murphy, Julie L.;
- Alston, Charlotte L.;
- Pyle, Angela;
- Coxhead, Jon;
- Payne, Brendan;
- Gorrie, George H.;
- Longman, Cheryl;
- Hadjivassiliou, Marios;
- McConville, John;
- Dick, David;
- Imam, Ibrahim;
- Hilton, David
Publication type:
Article
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
By:
- Pitceathly, Robert D. S.;
- Smith, Conrad;
- Fratter, Carl;
- Alston, Charlotte L.;
- He, Langping;
- Craig, Kate;
- Blakely, Emma L.;
- Evans, Julie C.;
- Taylor, John;
- Shabbir, Zarfishan;
- Deschauer, Marcus;
- Pohl, Ute;
- Roberts, Mark E.;
- Jackson, Matthew C.;
- Halfpenny, Christopher A.;
- Turnpenny, Peter D.;
- Lunt, Peter W.;
- Hanna, Michael G.;
- Schaefer, Andrew M.;
- McFarland, Robert
Publication type:
Article
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2952, doi. 10.1093/brain/awq232
By:
- Tuppen, Helen A. L.;
- Hogan, Vanessa E.;
- Langping He;
- Blakely, Emma L.;
- Worgan, Lisa;
- Al-Dosary, Mazhor;
- Saretzki, Gabriele;
- Alston, Charlotte L.;
- Morris, Andrew A.;
- Clarke, Michael;
- Jones, Simon;
- Devlin, Anita M.;
- Mansour, Sahar;
- Chrzanowska-Lightowlers, Zofia M. A.;
- Thorburn, David R.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Published in:
Annals of Neurology, 2022, v. 91, n. 1, p. 117, doi. 10.1002/ana.26260
By:
- Lim, Albert Z.;
- Ng, Yi Shiau;
- Blain, Alasdair;
- Jiminez‐Moreno, Cecilia;
- Alston, Charlotte L.;
- Nesbitt, Victoria;
- Simmons, Louise;
- Santra, Saikat;
- Wassmer, Evangeline;
- Blakely, Emma L.;
- Turnbull, Doug M.;
- Taylor, Robert W.;
- Gorman, Gráinne S.;
- McFarland, Robert
Publication type:
Article
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Published in:
2019
By:
- Ng, Yi Shiau;
- Martikainen, Mika H.;
- Gorman, Gráinne S.;
- Blain, Alasdair;
- Bugiardini, Enrico;
- Bunting, Apphia;
- Schaefer, Andrew M.;
- Alston, Charlotte L.;
- Blakely, Emma L.;
- Sharma, Sunil;
- Hughes, Imelda;
- Lim, Albert;
- de Goede, Christian;
- McEntagart, Meriel;
- Spinty, Stefan;
- Horrocks, Iain;
- Roberts, Mark;
- Woodward, Cathy E.;
- Chinnery, Patrick F.;
- Horvath, Rita
Publication type:
journal article
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
Published in:
2016
By:
- Ng, Yi Shiau;
- Feeney, Catherine;
- Schaefer, Andrew M.;
- Holmes, Carol Ellen;
- Hynd, Paula;
- Alston, Charlotte L.;
- Grady, John P.;
- Roberts, Mark;
- Maguire, Mellisa;
- Bright, Alexandra;
- Taylor, Robert W.;
- Yiannakou, Yan;
- McFarland, Robert;
- Turnbull, Doug M.;
- Gorman, Gráinne S.;
- Gorman, Gráinne S
Publication type:
journal article
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Published in:
Annals of Neurology, 2015, v. 77, n. 5, p. 753, doi. 10.1002/ana.24362
By:
- Gorman, Gráinne S.;
- Schaefer, Andrew M.;
- Ng, Yi;
- Gomez, Nicholas;
- Blakely, Emma L.;
- Alston, Charlotte L.;
- Feeney, Catherine;
- Horvath, Rita;
- Yu‐Wai‐Man, Patrick;
- Chinnery, Patrick F.;
- Taylor, Robert W.;
- Turnbull, Douglass M.;
- McFarland, Robert
Publication type:
Article
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 297, doi. 10.1002/jimd.12156
By:
- Mingirulli, Nadja;
- Pyle, Angela;
- Hathazi, Denisa;
- Alston, Charlotte L.;
- Kohlschmidt, Nicolai;
- O'Grady, Gina;
- Waddell, Leigh;
- Evesson, Frances;
- Cooper, Sandra B. T.;
- Turner, Christian;
- Duff, Jennifer;
- Topf, Ana;
- Yubero, Delia;
- Jou, Cristina;
- Nascimento, Andrés;
- Ortez, Carlos;
- García‐Cazorla, Angels;
- Gross, Claudia;
- O'Callaghan, Maria;
- Santra, Saikat
Publication type:
Article
Recent advances in understanding the molecular genetic basis of mitochondrial disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 36, doi. 10.1002/jimd.12104
By:
- Thompson, Kyle;
- Collier, Jack J.;
- Glasgow, Ruth I. C.;
- Robertson, Fiona M.;
- Pyle, Angela;
- Blakely, Emma L.;
- Alston, Charlotte L.;
- Oláhová, Monika;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
By:
- Oláhová, Monika;
- Berti, Camilla Ceccatelli;
- Collier, Jack J;
- Alston, Charlotte L;
- Jameson, Elisabeth;
- Jones, Simon A;
- Edwards, Noel;
- He, Langping;
- Chinnery, Patrick F;
- Horvath, Rita;
- Goffrini, Paola;
- Taylor, Robert W;
- Sayer, John A
Publication type:
Article
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 5, p. 1031, doi. 10.1093/hmg/ddv626
By:
- 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.
Publication type:
Article
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Published in:
Nucleic Acids Research, 2019, v. 47, n. 14, p. 7430, doi. 10.1093/nar/gkz472
By:
- Lehmann, Diana;
- Tuppen, Helen A L;
- Campbell, Georgia E;
- Alston, Charlotte L;
- Lawless, Conor;
- Rosa, Hannah S;
- Rocha, Mariana C;
- Reeve, Amy K;
- Nicholls, Thomas J;
- Deschauer, Marcus;
- Zierz, Stephan;
- Taylor, Robert W;
- Turnbull, Doug M;
- Vincent, Amy E
Publication type:
Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
By:
- Saoura, Makenzie;
- Powell, Christopher A.;
- Kopajtich, Robert;
- Alahmad, Ahmad;
- AL‐Balool, Haya H.;
- Albash, Buthaina;
- Alfadhel, Majid;
- Alston, Charlotte L.;
- Bertini, Enrico;
- Bonnen, Penelope E.;
- Bratkovic, Drago;
- Carrozzo, Rosalba;
- Donati, Maria A.;
- Di Nottia, Michela;
- Ghezzi, Daniele;
- Goldstein, Amy;
- Haan, Eric;
- Horvath, Rita;
- Hughes, Joanne;
- Invernizzi, Federica
Publication type:
Article
Loss‐of‐function mutations in <italic>ISCA2</italic> disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.
Published in:
Human Mutation, 2018, v. 39, n. 4, p. 537, doi. 10.1002/humu.23396
By:
- Alaimo, Joseph T.;
- Besse, Arnaud;
- Alston, Charlotte L.;
- Pang, Ki;
- Appadurai, Vivek;
- Samanta, Monisha;
- Smpokou, Patroula;
- McFarland, Robert;
- Taylor, Robert W.;
- Bonnen, Penelope E.
Publication type:
Article
Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.
Published in:
Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358
By:
- Blakely, Emma L.;
- Yarham, John W.;
- Alston, Charlotte L.;
- Craig, Kate;
- Poulton, Joanna;
- Brierley, Charlotte;
- Park, Soo‐Mi;
- Dean, Andrew;
- Xuereb, John H.;
- Anderson, Kirstie N.;
- Compston, Alistair;
- Allen, Chris;
- Sharif, Saba;
- Enevoldson, Peter;
- Wilson, Martin;
- Hammans, Simon R.;
- Turnbull, Douglass M.;
- McFarland, Robert;
- Taylor, Robert W.
Publication type:
Article
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
Published in:
Human Mutation, 2011, v. 32, n. 11, p. 1319, doi. 10.1002/humu.21575
By:
- Yarham, John W.;
- Al-Dosary, Mazhor;
- Blakely, Emma L.;
- Alston, Charlotte L.;
- Taylor, Robert W.;
- Elson, Joanna L.;
- McFarland, Robert
Publication type:
Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies.
Published in:
JAMA: Journal of the American Medical Association, 2014, v. 312, n. 1, p. 68, doi. 10.1001/jama.2014.7184
By:
- Taylor, Robert W.;
- Pyle, Angela;
- Griffin, Helen;
- Blakely, Emma L.;
- Duff, Jennifer;
- Langping He;
- Smertenko, Tania;
- Alston, Charlotte L.;
- Neeve, Vivienne C.;
- Best, Andrew;
- Yarham, John W.;
- Kirschner, Janbernd;
- Schara, Ulrike;
- Talim, Beril;
- Topaloglu, Haluk;
- Baric, Ivo;
- Holinski-Feder, Elke;
- Abicht, Angela;
- Czermin, Birgit;
- Kleinle, Stephanie
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

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