Works by Taylor, Robert W.

Results: 295

A Significant Improvement of the Efficacy of Radical Oxidant Probes by the Kinetic Isotope Effect.

Published in:

Angewandte Chemie, 2010, v. 122, n. 35, p. 6270, doi. 10.1002/ange.201002228

By:

Kundu, Kousik;
Knight, Sarah F.;
Lee, Seungjun;
Taylor, W. Robert;
Murthy, Niren

Publication type:

Article

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

Published in:

2016

By:

McKiernan, Patrick;
Ball, Sarah;
Santra, Saikat;
Foster, Katherine;
Fratter, Carl;
Poulton, Joanna;
Craig, Kate;
McFarland, Robert;
Rahman, Shamima;
Hargreaves, Iain;
Gupte, Girish;
Sharif, Khalid;
Taylor, Robert W.

Publication type:

journal 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

Is It an Inside Job? An Examination of Internal Affairs Complaint Investigation Files and the Production of Nonsustained Findings.

Published in:

Criminal Justice Policy Review, 2007, v. 18, n. 4, p. 353, doi. 10.1177/0887403407303799

By:

Liederbach, John;
Boyd, Lorenzo M.;
Taylor, Robert W.;
Kawucha, Soraya K.

Publication type:

Article

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Published in:

Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1428175

By:

Al-Hassnan, Zuhair;
AlDosary, Mazhor;
AlHargan, Aljouhra;
AlQudairy, Hanan;
Almass, Rawan;
Alahmadi, Khaled Omar;
AlShahrani, Saif;
AlBakheet, Albandary;
Almuhaizea, Mohammad A.;
Taylor, Robert W.;
Colak, Dilek;
Kaya, Namik

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

Antimalarial drug toxicity: a review.

Published in:

2004

By:

Taylor, W Robert J;
White, Nicholas J

Publication type:

journal article

Antimalarial Drug Toxicity.

Published in:

Drug Safety, 2004, v. 27, n. 1, p. 25, doi. 10.2165/00002018-200427010-00003

By:

Taylor, W. Robert J.;
White, Nicholas J.

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

Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.

Published in:

Journal of Hematology & Oncology, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-8722-6-24

By:

Zamzami, Mazin A.;
Duley, John A.;
Price, Gareth R.;
Venter, Deon J.;
Yarham, John W.;
Taylor, Robert W.;
Catley, Laurence P.;
Florin, Timothy H. J.;
Marinaki, Anthony M.;
Bowling, Francis

Publication type:

Article

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63881

By:

Hassaan, Hebatallah M;
Pyle, Angela;
Almenabawy, Nihal;
Robertson, Fiona M;
Elkhateeb, Nour;
Girgis, Marian Y;
Mahmoud, Iman Gamal El Din;
Amer, Fawzia;
Samaha, Mona;
Shaheen, Yara;
ElNaggar, Walaa;
Abdoh, Doaa;
Mehaney, Dina Ahmed;
Meguid, Iman Ehsan Abdel;
Taylor, Robert W;
McFarland, Robert;
Selim, Laila

Publication type:

Article

Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2783, doi. 10.1002/ajmg.a.62848

By:

Lok, Aishin;
Fernandez‐Garcia, Miguel A.;
Taylor, Robert W.;
French, Courtney;
MacFarland, Robert;
Bodi, Istvan;
Champion, Michael;
Josifova, Dragana;
Raymond, Frances Lucy;
Iuso, Arcangela;
Jungbluth, Heinz;
Milan, Anna;
Singh, Rahul R.

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

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.

Published in:

European Heart Journal, 2012, v. 33, n. 24, p. 3023, doi. 10.1093/eurheartj/ehs275

By:

Bates, Matthew G. D.;
Bourke, John P.;
Giordano, Carla;
d'Amati, Giulia;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Neuroprotective effects of fosgonimeton and amyloid‐β‐targeting monoclonal antibodies against amyloid‐β toxicity in primary neuron culture.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S6, p. 1, doi. 10.1002/alz.089826

By:

Reda, Sherif M;
Wu, Wei;
Setti, Sharay E.;
Berthiaume, Andrée‐Anne;
Taylor, Robert W;
Johnston, Jewel L;
Church, Kevin J.

Publication type:

Article

Fosgonimeton attenuates amyloid‐β‐induced autophagic impairments in primary cortical neurons.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S6, p. 1, doi. 10.1002/alz.089252

By:

Reda, Sherif M;
Wu, Wei;
Berthiaume, Andrée‐Anne;
Setti, Sharay E.;
Taylor, Robert W;
Johnston, Jewel L;
Church, Kevin J.

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

Epilepsy due to mutations in the mitochondrial polymerase gamma ( POLG) gene: A clinical and molecular genetic review.

Published in:

Epilepsia (Series 4), 2016, v. 57, n. 10, p. 1531, doi. 10.1111/epi.13508

By:

Anagnostou, Maria‐Eleni;
Ng, Yi Shiau;
Taylor, Robert W.;
McFarland, Robert

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

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

Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment.

Published in:

JAMA Neurology, 2015, v. 72, n. 5, p. 603, doi. 10.1001/jamaneurol.2015.0150

By:

Payne, Brendan A. I.;
Gardner, Kristian;
Blakely, Emma L.;
Maddison, Paul;
Horvath, Rita;
Taylor, Robert W.;
Chinnery, Patrick F.

Publication type:

Article

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

Published in:

JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753

By:

Gorman, Gráinne S.;
Pfeffer, Gerald;
Griffin, Helen;
Blakely, Emma L.;
Kurzawa-Akanbi, Marzena;
Gabriel, Jessica;
Sitarz, Kamil;
Roberts, Mark;
Schoser, Benedikt;
Pyle, Angela;
Schaefer, Andrew M.;
McFarland, Robert;
Turnbull, Douglass M.;
Horvath, Rita;
Chinnery, Patrick F.;
Taylor, Robert W.

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

The Role of Fatty Acid Synthase in the Vascular Smooth Muscle Cell to Foam Cell Transition.

Published in:

Cells (2073-4409), 2024, v. 13, n. 8, p. 658, doi. 10.3390/cells13080658

By:

Bogan, Bethany J.;
Williams, Holly C.;
Holden, Claire M.;
Patel, Vraj;
Joseph, Giji;
Fierro, Christopher;
Sepulveda, Hugo;
Taylor, W. Robert;
Rezvan, Amir;
San Martin, Alejandra

Publication type:

Article

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.

Published in:

Cells (2073-4409), 2022, v. 11, n. 19, p. 3154, doi. 10.3390/cells11193154

By:

Aldosary, Mazhor;
Alsagob, Maysoon;
AlQudairy, Hanan;
González-Álvarez, Ana C.;
Arold, Stefan T.;
Dababo, Mohammad Anas;
Alharbi, Omar A.;
Almass, Rawan;
AlBakheet, AlBandary;
AlSarar, Dalia;
Qari, Alya;
Al-Ansari, Mysoon M.;
Oláhová, Monika;
Al-Shahrani, Saif A.;
AlSayed, Moeenaldeen;
Colak, Dilek;
Taylor, Robert W.;
AlOwain, Mohammed;
Kaya, Namik

Publication type:

Article

The quarternary molecular architecture of TetA, a secondary tetracycline transporter from Escherichia coli.

Published in:

Molecular Microbiology, 2000, v. 38, n. 3, p. 482, doi. 10.1046/j.1365-2958.2000.02149.x

By:

Yin, Chang-Cheng;
Aldema-Ramos, Mila L.;
Borges-Walmsley, M. Ines;
Taylor, Robert W.;
Walmsley, Adrian R.;
Levy, Stuart B.;
Bullough, Per A.

Publication type:

Article

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 9, p. 3065, doi. 10.1093/nar/gkn147

By:

Rorbach, Joanna;
Yusoff, Abdul Aziz;
Tuppen, Helen;
Abg-Kamaludin, Dyg P.;
Chrzanowska-Lightowlers, Zofia M.A.;
Taylor, Robert W.;
Turnbull, Douglass M.;
McFarland, Robert;
Lightowlers, Robert N.

Publication type:

Article

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

Published in:

Nucleic Acids Research, 2006, v. 34, n. 13, p. e95, doi. 10.1093/nar/gkl516

By:

Pye, Deborah;
Kyriakouli, Dimitra S.;
Taylor, Geoffrey A.;
Johnson, Riem;
Elstner, Matthias;
Meunier, Brigitte;
Chrzanowska-Lightowlers, Zofia M. A.;
Taylor, Robert W.;
Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

Detection and quantification of mitochondrial DNA deletions in individual cells by real‐time PCR.

Published in:

Nucleic Acids Research, 2002, v. 30, n. 14, p. e68

By:

He, Langping;
Chinnery, Patrick F.;
Durham, Steve E.;
Blakely, Emma L.;
Wardell, Theresa M.;
Borthwick, Gillian M.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 16, p. 3404, doi. 10.1093/nar/29.16.3404

By:

Taylor, Robert W.;
Wardell, Theresa M.;
Connolly, Bernard A.;
Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 15, p. e74, doi. 10.1093/nar/29.15.e74

By:

Taylor, Robert W.;
Taylor, Geoffrey A.;
Durham, Steve E.;
Turnbull, Douglass M.

Publication type:

Article

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.

Published in:

Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0

By:

Pantic, Boris;
Ives, Daniel;
Mennuni, Mara;
Perez-Rodriguez, Diego;
Fernandez-Pelayo, Uxoa;
Lopez de Arbina, Amaia;
Muñoz-Oreja, Mikel;
Villar-Fernandez, Marina;
Dang, Thanh-mai Julie;
Vergani, Lodovica;
Johnston, Iain G.;
Pitceathly, Robert D. S.;
McFarland, Robert;
Hanna, Michael G.;
Taylor, Robert W.;
Holt, Ian J.;
Spinazzola, Antonella

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

Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1735, doi. 10.1038/ejhg.2015.73

By:

Lehmann, Diana;
Schubert, Kathrin;
Joshi, Pushpa R;
Hardy, Steven A;
Tuppen, Helen A L;
Baty, Karen;
Blakely, Emma L;
Bamberg, Christian;
Zierz, Stephan;
Deschauer, Marcus;
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

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 897, doi. 10.1038/ejhg.2012.44

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 910, doi. 10.1038/ejhg.2012.123

By:

Tuppen, Helen AL;
Naess, Karin;
Kennaway, Nancy G;
Al-Dosary, Mazhor;
Lesko, Nicole;
Yarham, John W;
Bruhn, Helene;
Wibom, Rolf;
Nennesmo, Inger;
Weleber, Richard G;
Blakely, Emma L;
Taylor, Robert W;
McFarland, Robert

Publication type:

Article

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 650, doi. 10.1038/ejhg.2011.262

By:

van der Walt, Elizna M;
Smuts, Izelle;
Taylor, Robert W;
Elson, Joanna L;
Turnbull, Douglass M;
Louw, Roan;
van der Westhuizen, Francois H

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

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18

By:

Swalwell, Helen;
Kirby, Denise M.;
Blakely, Emma L.;
Mitchell, Anna;
Salemi, Renato;
Sugiana, Canny;
Compton, Alison G.;
Tucker, Elena J;
Ke, Bi-Xia;
Lamont, Phillipa J.;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W.;
Thorburn, David R.

Publication type:

Article

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65

By:

Swalwell, Helen;
Blakely, Emma L.;
Sutton, Ruth;
Tonska, Kasia;
Elstner, Matthias;
Langping He;
Taivassalo, Tanja;
Burns, Dennis K.;
Turnbull, Douglass M.;
Haller, Ronald G.;
Davidson, Mercy M.;
Taylor, Robert W.

Publication type:

Article

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 623, doi. 10.1038/sj.ejhg.5201363

By:

Blakely, Emma L.;
de Silva, Rajith;
King, Andrew;
Schwarzer, Verena;
Harrower, Tim;
Dawidek, Gervase;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 778, doi. 10.1038/sj.ejhg.5201216

By:

Mcdonnell, Martina T.;
Schaefer, Andrew M.;
Blakely, Emma L.;
McFarland, Robert;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

A novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 6, p. 509, doi. 10.1038/sj.ejhg.5201185

By:

Maniura-Weber, Katharina;
Taylor, Robert W.;
Johnson, Margaret A.;
Chrzanowska-Lightowlers, Zofia;
Morris, Andrew A. M.;
Charlton, Charles P. J.;
Turnbull, Douglas M.;
Bindoff, Laurence A.

Publication type:

Article

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200773

By:

Taylor, Robert W.;
Morris, Andrew A.M.;
Hutchinson, Michael;
Turnbull, Douglass M.

Publication type:

Article

Association between inhaled nitric oxide treatment and long-term pulmonary function in survivors of acute respiratory distress syndrome.

Published in:

2012

By:

Dellinger, R Phillip;
Trzeciak, Stephen W;
Criner, Gerard J;
Zimmerman, Janice L;
Taylor, Robert W;
Usansky, Helen;
Young, Joseph;
Goldstein, Brahm

Publication type:

journal article

Activated protein C in septic shock: a propensity-matched analysis.

Published in:

2011

By:

Sadaka, Farid;
O'Brien, Jacklyn;
Migneron, Matthew;
Stortz, Julie;
Vanston, Alexander;
Taylor, Robert W

Publication type:

journal article

The molecular pathology of pathogenic mitochondrial tRNA variants.

Published in:

FEBS Letters, 2021, v. 595, n. 8, p. 1003, doi. 10.1002/1873-3468.14049

By:

Richter, Uwe;
McFarland, Robert;
Taylor, Robert W.;
Pickett, Sarah J.

Publication type:

Article

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-023-03014-8

By:

Bisschoff, Michelle;
Smuts, Izelle;
Dercksen, Marli;
Schoonen, Maryke;
Vorster, Barend C.;
van der Watt, George;
Spencer, Careni;
Naidu, Kireshnee;
Henning, Franclo;
Meldau, Surita;
McFarland, Robert;
Taylor, Robert W.;
Patel, Krutik;
Fassad, Mahmoud R.;
Vandrovcova, Jana;
Wanders, Ronald J. A.;
van der Westhuizen, Francois H.

Publication type:

Article